P4HB (prolyl 4-hydroxylase subunit beta) - Chinchilla Research Resource Database
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Gene: P4HB (prolyl 4-hydroxylase subunit beta) Homo sapiens
Analyze
Symbol: P4HB
Name: prolyl 4-hydroxylase subunit beta
CRRD ID: 733481
Description: Exhibits several functions, including integrin binding activity; protein disulfide isomerase activity; and protein heterodimerization activity. Contributes to procollagen-proline 4-dioxygenase activity. Involved in several processes, including peptidyl-proline hydroxylation to 4-hydroxy-L-proline; positive regulation of substrate adhesion-dependent cell spreading; and positive regulation of viral entry into host cell. Localizes to several cellular components, including endoplasmic reticulum-Golgi intermediate compartment; external side of plasma membrane; and procollagen-proline 4-dioxygenase complex. Implicated in Cole-Carpenter syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cellular thyroid hormone-binding protein; CLCRP1; collagen prolyl 4-hydroxylase beta; DSI; ERBA2L; GIT; glutathione-insulin transhydrogenase; P4Hbeta; p55; PDI; PDIA1; PHDB; PO4DB; PO4HB; procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide; PROHB; prolyl 4-hydroxylase, beta polypeptide; protein disulfide isomerase family A, member 1; protein disulfide isomerase-associated 1; protein disulfide isomerase/oxidoreductase; protein disulfide-isomerase; protocollagen hydroxylase; testicular secretory protein Li 32; thyroid hormone-binding protein p55; v-erb-a avian erythroblastic leukemia viral oncogene homolog 2-like
Orthologs:
Mus musculus (house mouse) : P4hb (prolyl 4-hydroxylase, beta polypeptide)  MGI  Alliance
Rattus norvegicus (Norway rat) : P4hb (prolyl 4-hydroxylase subunit beta)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : P4hb (prolyl 4-hydroxylase subunit beta)
Pan paniscus (bonobo/pygmy chimpanzee) : P4HB (prolyl 4-hydroxylase subunit beta)
Canis lupus familiaris (dog) : P4HB (prolyl 4-hydroxylase subunit beta)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : P4hb (prolyl 4-hydroxylase subunit beta)
Sus scrofa (pig) : P4HB (prolyl 4-hydroxylase subunit beta)
Chlorocebus sabaeus (African green monkey) : P4HB (prolyl 4-hydroxylase subunit beta)
Heterocephalus glaber (naked mole-rat) : P4hb (prolyl 4-hydroxylase subunit beta)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1781,843,161 - 81,860,624 (-)EnsemblGRCh38hg38GRCh38
GRCh381781,843,159 - 81,860,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371779,801,034 - 79,818,566 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,394,323 - 77,411,833 (-)NCBINCBI36hg18NCBI36
Celera1776,404,498 - 76,422,010 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1775,202,821 - 75,220,332 (-)NCBIHuRef
CHM1_11779,887,239 - 79,904,780 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dichlorophenol  (ISO)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
3,3',5'-triiodo-L-thyronine  (ISO)
3,3',5'-triiodothyronine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (ISO)
4-octylphenol  (ISO)
5-azacytidine  (EXP,ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
bromobenzene  (ISO)
bucladesine  (EXP)
cadmium dichloride  (EXP)
calcidiol  (ISO)
calcitriol  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
isoprenaline  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
medroxyprogesterone acetate  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
motexafin gadolinium  (EXP)
N-nitrosomorpholine  (ISO)
nafenopin  (ISO)
naphthalene  (ISO)
nicotine  (ISO)
obeticholic acid  (EXP)
oxidopamine  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
perfluorododecanoic acid  (ISO)
phenylarsonous acid  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
Propiverine  (ISO)
quercetin  (EXP)
S-nitrosoglutathione  (ISO)
sarin  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulforaphane  (EXP)
T-2 Toxin  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
Tetrachlorobisphenol A  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1286669   PMID:1339453   PMID:1559965   PMID:1597478   PMID:1667665   PMID:1677563   PMID:1699755   PMID:2079031   PMID:2846539   PMID:3032969   PMID:3034602   PMID:3342239  
PMID:3467900   PMID:3611107   PMID:7753822   PMID:8111381   PMID:8580850   PMID:8672469   PMID:9150948   PMID:9399589   PMID:10329688   PMID:10383197   PMID:10436013   PMID:10636893  
PMID:10970843   PMID:11181151   PMID:11257307   PMID:11707400   PMID:11790298   PMID:11847130   PMID:12095988   PMID:12218051   PMID:12218052   PMID:12475965   PMID:12477932   PMID:12485997  
PMID:12493773   PMID:12643545   PMID:12665801   PMID:12874193   PMID:14500733   PMID:14592831   PMID:14702039   PMID:14718574   PMID:14871477   PMID:15146195   PMID:15158710   PMID:15225124  
PMID:15231747   PMID:15324660   PMID:15358778   PMID:15489334   PMID:15590633   PMID:15611098   PMID:15644496   PMID:15695804   PMID:15720785   PMID:15952740   PMID:16169070   PMID:16303743  
PMID:16344560   PMID:16677074   PMID:17055437   PMID:17081065   PMID:17301129   PMID:17353931   PMID:17620599   PMID:18029348   PMID:19199708   PMID:19890397   PMID:19913121   PMID:19942855  
PMID:20000738   PMID:20348541   PMID:20360068   PMID:20458450   PMID:20562859   PMID:20628086   PMID:20668226   PMID:20802462   PMID:21057456   PMID:21081666   PMID:21145461   PMID:21299467  
PMID:21319273   PMID:21373848   PMID:21423176   PMID:21670307   PMID:21873635   PMID:21988832   PMID:22079093   PMID:22174317   PMID:22190034   PMID:22268729   PMID:22304920   PMID:22337587  
PMID:22586326   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:23141538   PMID:23152784   PMID:23206338   PMID:23246001   PMID:23337974   PMID:23444257   PMID:23475612  
PMID:23824909   PMID:23861867   PMID:23874603   PMID:23919619   PMID:23956138   PMID:23979707   PMID:24244333   PMID:24415753   PMID:24457600   PMID:24549644   PMID:24711643   PMID:24778252  
PMID:24999758   PMID:25108285   PMID:25258311   PMID:25324306   PMID:25416956   PMID:25437307   PMID:25544563   PMID:25575667   PMID:25683117   PMID:25852190   PMID:25921289   PMID:25959826  
PMID:25963833   PMID:26000911   PMID:26186194   PMID:26217791   PMID:26224785   PMID:26344197   PMID:26370502   PMID:26389662   PMID:26496610   PMID:26499835   PMID:26607804   PMID:26618866  
PMID:26638075   PMID:26641092   PMID:26670633   PMID:26831064   PMID:26869642   PMID:27025967   PMID:27142583   PMID:27173435   PMID:27342126   PMID:27432908   PMID:27609421   PMID:27684187  
PMID:27703014   PMID:27716508   PMID:27751915   PMID:27777122   PMID:27880917   PMID:28034831   PMID:28052026   PMID:28109047   PMID:28257787   PMID:28330616   PMID:28364042   PMID:28514442  
PMID:28515276   PMID:28581483   PMID:28598864   PMID:28675297   PMID:28902428   PMID:28986522   PMID:29104064   PMID:29128334   PMID:29180619   PMID:29191937   PMID:29207176   PMID:29229926  
PMID:29298432   PMID:29467281   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29521097   PMID:29669786   PMID:29704455   PMID:29784879   PMID:29845934   PMID:29904245   PMID:29924999  
PMID:30021884   PMID:30258100   PMID:30431122   PMID:30503554   PMID:30575818   PMID:30631154   PMID:30711629   PMID:30760703   PMID:30948266   PMID:30958660   PMID:30996048   PMID:31005252  
PMID:31046837   PMID:31056421   PMID:31067453   PMID:31091453   PMID:31180492   PMID:31467922   PMID:31527615   PMID:31536960   PMID:31594818   PMID:31617661   PMID:31640086   PMID:31980649  
PMID:32296183  


Genomics

Comparative Map Data
P4HB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1781,843,161 - 81,860,624 (-)EnsemblGRCh38hg38GRCh38
GRCh381781,843,159 - 81,860,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371779,801,034 - 79,818,566 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,394,323 - 77,411,833 (-)NCBINCBI36hg18NCBI36
Celera1776,404,498 - 76,422,010 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1775,202,821 - 75,220,332 (-)NCBIHuRef
CHM1_11779,887,239 - 79,904,780 (-)NCBICHM1_1
P4hb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911120,451,124 - 120,464,079 (-)NCBI
GRCm3811120,560,298 - 120,573,253 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11120,560,298 - 120,573,253 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711120,421,618 - 120,434,250 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611120,376,394 - 120,389,026 (-)NCBImm8
Celera11132,295,664 - 132,308,296 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1184.27NCBI
P4hb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.010109,736,459 - 109,748,070 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10109,736,458 - 109,747,987 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010109,329,596 - 109,341,091 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410109,950,221 - 109,961,716 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.110109,964,724 - 109,976,220 (-)NCBI
Celera10104,380,384 - 104,391,995 (-)NCBICelera
Cytogenetic Map10q32.3NCBI
P4hb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555061,307,932 - 1,324,027 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555061,307,932 - 1,322,011 (+)NCBIChiLan1.0ChiLan1.0
P4HB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11781,950,826 - 81,968,329 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1781,950,422 - 81,968,109 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01776,248,252 - 76,266,152 (-)NCBI
P4HB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl9427,830 - 436,064 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.19427,827 - 436,880 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
P4hb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365945,368,199 - 5,379,215 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
P4HB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl121,121,793 - 1,131,291 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1121,121,816 - 1,131,291 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
P4HB
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1673,718,656 - 73,733,892 (-)Ensembl
ChlSab1.11673,718,743 - 73,733,488 (-)NCBI
P4hb
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
RH80067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,801,076 - 79,801,347UniSTSGRCh37
Build 361777,394,365 - 77,394,636RGDNCBI36
Celera1776,404,540 - 76,404,811RGD
Cytogenetic Map17q25UniSTS
HuRef1775,202,863 - 75,203,134UniSTS
GeneMap99-GB4 RH Map17530.84UniSTS
GDB:178579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,801,337 - 79,801,621UniSTSGRCh37
Build 361777,394,626 - 77,394,910RGDNCBI36
Celera1776,404,801 - 76,405,085RGD
Cytogenetic Map17q25UniSTS
HuRef1775,203,124 - 75,203,408UniSTS
GDB:180947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,801,484 - 79,801,896UniSTSGRCh37
Build 361777,394,773 - 77,395,185RGDNCBI36
Celera1776,404,948 - 76,405,360RGD
Cytogenetic Map17q25UniSTS
HuRef1775,203,271 - 75,203,683UniSTS
GDB:271296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,802,916 - 79,803,701UniSTSGRCh37
Build 361777,396,205 - 77,396,990RGDNCBI36
Celera1776,406,382 - 76,407,167RGD
Cytogenetic Map17q25UniSTS
HuRef1775,204,703 - 75,205,488UniSTS
RH47036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,801,635 - 79,801,756UniSTSGRCh37
Build 361777,394,924 - 77,395,045RGDNCBI36
Celera1776,405,099 - 76,405,220RGD
Cytogenetic Map17q25UniSTS
HuRef1775,203,422 - 75,203,543UniSTS
GeneMap99-GB4 RH Map17530.84UniSTS
NCBI RH Map17810.0UniSTS
P4HB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,803,845 - 79,804,404UniSTSGRCh37
Celera1776,407,311 - 76,407,870UniSTS
HuRef1775,205,632 - 75,206,191UniSTS
MARC_24372-24373:1030120998:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,803,809 - 79,804,403UniSTSGRCh37
Celera1776,407,275 - 76,407,869UniSTS
HuRef1775,205,596 - 75,206,190UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR210hsa-miR-210-3pMirtarbaseexternal_info2DGE//immunoprecipitaion//Mass spectrometry//MicroFunctional MTI19826008

Predicted Target Of
Summary Value
Count of predictions:7892
Count of miRNA genes:1169
Interacting mature miRNAs:1483
Transcripts:ENST00000331483, ENST00000415593, ENST00000439918, ENST00000466567, ENST00000467086, ENST00000471535, ENST00000472244, ENST00000473021, ENST00000474712, ENST00000476482, ENST00000477607, ENST00000478034, ENST00000484286, ENST00000570907, ENST00000571507, ENST00000571617, ENST00000573778, ENST00000574007, ENST00000574914, ENST00000575069, ENST00000576052, ENST00000576380, ENST00000576390, ENST00000576541
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 11 1 81 88 19 78 28 8 16 12 67 46 11 1
Medium 2421 2980 1642 534 1928 386 4327 2183 3682 406 1381 1562 160 1204 2787 4
Low 3 6 2 4 1 1 5 10 4 2 3 1 1 2
Below cutoff 1 2 1 1 11 1 7 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC174470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU131354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX353203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA412209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB466371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC258721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC303360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S37207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331483   ⟹   ENSP00000327801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,166 - 81,860,535 (-)Ensembl
RefSeq Acc Id: ENST00000415593   ⟹   ENSP00000388117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,166 - 81,847,327 (-)Ensembl
RefSeq Acc Id: ENST00000439918   ⟹   ENSP00000388374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,994 - 81,860,560 (-)Ensembl
RefSeq Acc Id: ENST00000466567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,858,814 - 81,860,624 (-)Ensembl
RefSeq Acc Id: ENST00000467086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,855,229 - 81,860,203 (-)Ensembl
RefSeq Acc Id: ENST00000471535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,855,542 - 81,860,211 (-)Ensembl
RefSeq Acc Id: ENST00000472244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,510 - 81,859,169 (-)Ensembl
RefSeq Acc Id: ENST00000473021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,492 - 81,845,456 (-)Ensembl
RefSeq Acc Id: ENST00000474712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,845,681 - 81,846,507 (-)Ensembl
RefSeq Acc Id: ENST00000476482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,961 - 81,846,671 (-)Ensembl
RefSeq Acc Id: ENST00000477607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,447 - 81,856,010 (-)Ensembl
RefSeq Acc Id: ENST00000478034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,360 - 81,855,451 (-)Ensembl
RefSeq Acc Id: ENST00000484286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,920 - 81,847,848 (-)Ensembl
RefSeq Acc Id: ENST00000570907   ⟹   ENSP00000461362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,543 - 81,859,215 (-)Ensembl
RefSeq Acc Id: ENST00000571507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,949 - 81,845,822 (-)Ensembl
RefSeq Acc Id: ENST00000571617   ⟹   ENSP00000458300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,844,066 - 81,860,532 (-)Ensembl
RefSeq Acc Id: ENST00000573778   ⟹   ENSP00000460088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,971 - 81,860,535 (-)Ensembl
RefSeq Acc Id: ENST00000574007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,947 - 81,859,730 (-)Ensembl
RefSeq Acc Id: ENST00000574914   ⟹   ENSP00000460612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,855,189 - 81,860,573 (-)Ensembl
RefSeq Acc Id: ENST00000575069   ⟹   ENSP00000459211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,161 - 81,860,566 (-)Ensembl
RefSeq Acc Id: ENST00000576052   ⟹   ENSP00000461791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,847,032 - 81,860,533 (-)Ensembl
RefSeq Acc Id: ENST00000576380   ⟹   ENSP00000460285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,846,431 - 81,860,514 (-)Ensembl
RefSeq Acc Id: ENST00000576390   ⟹   ENSP00000461718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,843,459 - 81,860,535 (-)Ensembl
RefSeq Acc Id: ENST00000576541   ⟹   ENSP00000460741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,847,327 - 81,860,478 (-)Ensembl
RefSeq Acc Id: NM_000918   ⟹   NP_000909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,843,166 - 81,860,535 (-)NCBI
GRCh371779,801,034 - 79,818,566 (-)NCBI
Build 361777,394,323 - 77,411,833 (-)NCBI Archive
HuRef1775,202,821 - 75,220,332 (-)ENTREZGENE
CHM1_11779,887,239 - 79,904,780 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450777   ⟹   XP_024306545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,843,159 - 81,860,535 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958014
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,843,159 - 81,860,535 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000909 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306545 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61169 (Get FASTA)   NCBI Sequence Viewer  
  AAB22262 (Get FASTA)   NCBI Sequence Viewer  
  AAC13652 (Get FASTA)   NCBI Sequence Viewer  
  AAH10859 (Get FASTA)   NCBI Sequence Viewer  
  AAH14504 (Get FASTA)   NCBI Sequence Viewer  
  AAH29617 (Get FASTA)   NCBI Sequence Viewer  
  AAH71892 (Get FASTA)   NCBI Sequence Viewer  
  AEE61169 (Get FASTA)   NCBI Sequence Viewer  
  BAB93497 (Get FASTA)   NCBI Sequence Viewer  
  BAG37999 (Get FASTA)   NCBI Sequence Viewer  
  BAG53171 (Get FASTA)   NCBI Sequence Viewer  
  BAG54732 (Get FASTA)   NCBI Sequence Viewer  
  BAG58932 (Get FASTA)   NCBI Sequence Viewer  
  BAG59598 (Get FASTA)   NCBI Sequence Viewer  
  BAG60277 (Get FASTA)   NCBI Sequence Viewer  
  BAG60311 (Get FASTA)   NCBI Sequence Viewer  
  BAG62267 (Get FASTA)   NCBI Sequence Viewer  
  CAA28775 (Get FASTA)   NCBI Sequence Viewer  
  CAA30112 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43001 (Get FASTA)   NCBI Sequence Viewer  
  CDM55388 (Get FASTA)   NCBI Sequence Viewer  
  CDM55569 (Get FASTA)   NCBI Sequence Viewer  
  EAW89690 (Get FASTA)   NCBI Sequence Viewer  
  EAW89691 (Get FASTA)   NCBI Sequence Viewer  
  EAW89692 (Get FASTA)   NCBI Sequence Viewer  
  EAW89693 (Get FASTA)   NCBI Sequence Viewer  
  EAW89694 (Get FASTA)   NCBI Sequence Viewer  
  EAW89695 (Get FASTA)   NCBI Sequence Viewer  
  EAW89696 (Get FASTA)   NCBI Sequence Viewer  
  P07237 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000909   ⟸   NM_000918
- Peptide Label: precursor
- UniProtKB: P07237 (UniProtKB/Swiss-Prot),   A0A024R8S5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306545   ⟸   XM_024450777
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000327801   ⟸   ENST00000331483
RefSeq Acc Id: ENSP00000388374   ⟸   ENST00000439918
RefSeq Acc Id: ENSP00000461362   ⟸   ENST00000570907
RefSeq Acc Id: ENSP00000458300   ⟸   ENST00000571617
RefSeq Acc Id: ENSP00000388117   ⟸   ENST00000415593
RefSeq Acc Id: ENSP00000460088   ⟸   ENST00000573778
RefSeq Acc Id: ENSP00000460612   ⟸   ENST00000574914
RefSeq Acc Id: ENSP00000459211   ⟸   ENST00000575069
RefSeq Acc Id: ENSP00000461791   ⟸   ENST00000576052
RefSeq Acc Id: ENSP00000461718   ⟸   ENST00000576390
RefSeq Acc Id: ENSP00000460285   ⟸   ENST00000576380
RefSeq Acc Id: ENSP00000460741   ⟸   ENST00000576541
Protein Domains
Thioredoxin

Promoters
RGD ID:6794405
Promoter ID:HG_KWN:27376
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000317261
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,396,136 - 77,397,452 (-)MPROMDB
RGD ID:6794404
Promoter ID:HG_KWN:27377
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000317258,   OTTHUMT00000317259
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,397,651 - 77,398,272 (-)MPROMDB
RGD ID:6794403
Promoter ID:HG_KWN:27378
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000317257,   OTTHUMT00000317260,   UC002KBL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,398,289 - 77,398,789 (-)MPROMDB
RGD ID:6794401
Promoter ID:HG_KWN:27379
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000317255,   OTTHUMT00000317256
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,406,324 - 77,406,824 (-)MPROMDB
RGD ID:6794407
Promoter ID:HG_KWN:27380
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000317262
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,410,401 - 77,410,902 (-)MPROMDB
RGD ID:6794400
Promoter ID:HG_KWN:27381
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000317250,   OTTHUMT00000317252,   OTTHUMT00000317253,   OTTHUMT00000317254,   UC002KBM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,411,106 - 77,412,422 (-)MPROMDB
RGD ID:7236659
Promoter ID:EPDNEW_H24076
Type:initiation region
Name:P4HB_1
Description:prolyl 4-hydroxylase subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24077  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,860,535 - 81,860,595EPDNEW
RGD ID:7236661
Promoter ID:EPDNEW_H24077
Type:initiation region
Name:P4HB_2
Description:prolyl 4-hydroxylase subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24076  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,861,551 - 81,861,611EPDNEW
RGD ID:6851180
Promoter ID:EP73358
Type:initiation region
Name:HS_P4HB
Description:Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline4-hydroxylase), beta polypeptide (protein disulfide isomerase;thyroid hormone binding protein p55).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|See cases [RCV000053454] Chr17:80328106..83086677 [GRCh38]
Chr17:78301906..81044553 [GRCh37]
Chr17:75916501..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
NM_000918.3(P4HB):c.352+607C>G single nucleotide variant Lung cancer [RCV000100667] Chr17:81858574 [GRCh38]
Chr17:79816450 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 copy number gain See cases [RCV000138688] Chr17:81008196..83102584 [GRCh38]
Chr17:78981996..81048189 [GRCh37]
Chr17:76596591..78653749 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 copy number loss See cases [RCV000142007] Chr17:81401966..83084062 [GRCh38]
Chr17:79375766..81041938 [GRCh37]
Chr17:76990361..78635227 [NCBI36]
Chr17:17q25.3
likely pathogenic
GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1 copy number loss See cases [RCV000142607] Chr17:81859688..82017612 [GRCh38]
Chr17:79817564..79975488 [GRCh37]
Chr17:77410853..77568777 [NCBI36]
Chr17:17q25.3
benign
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys) single nucleotide variant Cole-Carpenter syndrome 1 [RCV000169753] Chr17:81845742 [GRCh38]
Chr17:79803618 [GRCh37]
Chr17:17q25.3
pathogenic|not provided
NM_000918.4(P4HB):c.1199G>A (p.Cys400Tyr) single nucleotide variant not provided [RCV000488283] Chr17:81845721 [GRCh38]
Chr17:79803597 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1 copy number loss See cases [RCV000449416] Chr17:78514452..81041938 [GRCh37]
Chr17:17q25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:79817155-79829187)x3 copy number gain See cases [RCV000447133] Chr17:79817155..79829187 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000918.4(P4HB):c.378G>A (p.Val126=) single nucleotide variant not provided [RCV000896219] Chr17:81855561 [GRCh38]
Chr17:79813437 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.1251T>C (p.His417=) single nucleotide variant not provided [RCV000903619] Chr17:81845669 [GRCh38]
Chr17:79803545 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.1452C>T (p.Leu484=) single nucleotide variant not provided [RCV000923443] Chr17:81844087 [GRCh38]
Chr17:79801963 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.1443T>C (p.Asp481=) single nucleotide variant not provided [RCV000899027] Chr17:81845147 [GRCh38]
Chr17:79803023 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.693C>T (p.His231=) single nucleotide variant not provided [RCV000916346] Chr17:81847279 [GRCh38]
Chr17:79805155 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.1177+10G>T single nucleotide variant not provided [RCV000923722] Chr17:81845861 [GRCh38]
Chr17:79803737 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.933G>A (p.Glu311=) single nucleotide variant not provided [RCV000916444] Chr17:81846552 [GRCh38]
Chr17:79804428 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.873C>T (p.Ile291=) single nucleotide variant not provided [RCV000925412] Chr17:81846612 [GRCh38]
Chr17:79804488 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.16C>T (p.Leu6=) single nucleotide variant not provided [RCV000916445] Chr17:81860456 [GRCh38]
Chr17:79818332 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.1374C>T (p.Asn458=) single nucleotide variant not provided [RCV000909257] Chr17:81845216 [GRCh38]
Chr17:79803092 [GRCh37]
Chr17:17q25.3
benign
NM_000918.4(P4HB):c.1497T>C (p.Asp499=) single nucleotide variant not provided [RCV000879456] Chr17:81844042 [GRCh38]
Chr17:79801918 [GRCh37]
Chr17:17q25.3
benign
NM_000918.4(P4HB):c.426C>T (p.Asp142=) single nucleotide variant not provided [RCV000917349] Chr17:81855513 [GRCh38]
Chr17:79813389 [GRCh37]
Chr17:17q25.3
likely benign
GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3 copy number gain not provided [RCV000848219] Chr17:79663313..80197463 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 copy number gain not provided [RCV000848418] Chr17:78608912..81041938 [GRCh37]
Chr17:17q25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_000918.4(P4HB):c.281A>G (p.Tyr94Cys) single nucleotide variant not provided [RCV000888855] Chr17:81859252 [GRCh38]
Chr17:79817128 [GRCh37]
Chr17:17q25.3
benign
NM_000918.4(P4HB):c.1350C>T (p.Ala450=) single nucleotide variant not provided [RCV000916532] Chr17:81845570 [GRCh38]
Chr17:79803446 [GRCh37]
Chr17:17q25.3
benign
NM_000918.4(P4HB):c.1407C>T (p.Phe469=) single nucleotide variant not provided [RCV000913349] Chr17:81845183 [GRCh38]
Chr17:79803059 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.856-8T>A single nucleotide variant not provided [RCV000935099] Chr17:81846637 [GRCh38]
Chr17:79804513 [GRCh37]
Chr17:17q25.3
benign
NM_000918.4(P4HB):c.1158A>G (p.Lys386=) single nucleotide variant not provided [RCV000912718] Chr17:81845890 [GRCh38]
Chr17:79803766 [GRCh37]
Chr17:17q25.3
likely benign
NM_000918.4(P4HB):c.303C>T (p.Thr101=) single nucleotide variant not provided [RCV000890324] Chr17:81859230 [GRCh38]
Chr17:79817106 [GRCh37]
Chr17:17q25.3
benign
NM_000918.4(P4HB):c.1148A>T (p.Asp383Val) single nucleotide variant Laryngomalacia [RCV001198907] Chr17:81845900 [GRCh38]
Chr17:79803776 [GRCh37]
Chr17:17q25.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8548 AgrOrtholog
COSMIC P4HB COSMIC
Ensembl Genes ENSG00000185624 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000327801 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388117 UniProtKB/TrEMBL
  ENSP00000388374 UniProtKB/TrEMBL
  ENSP00000458300 UniProtKB/TrEMBL
  ENSP00000459211 UniProtKB/TrEMBL
  ENSP00000460088 UniProtKB/TrEMBL
  ENSP00000460285 UniProtKB/TrEMBL
  ENSP00000460612 UniProtKB/TrEMBL
  ENSP00000460741 UniProtKB/TrEMBL
  ENSP00000461362 UniProtKB/TrEMBL
  ENSP00000461718 UniProtKB/TrEMBL
  ENSP00000461791 UniProtKB/TrEMBL
Ensembl Transcript ENST00000331483 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415593 UniProtKB/TrEMBL
  ENST00000439918 UniProtKB/TrEMBL
  ENST00000570907 UniProtKB/TrEMBL
  ENST00000571617 UniProtKB/TrEMBL
  ENST00000573778 UniProtKB/TrEMBL
  ENST00000574914 UniProtKB/TrEMBL
  ENST00000575069 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000576052 UniProtKB/TrEMBL
  ENST00000576380 UniProtKB/TrEMBL
  ENST00000576390 UniProtKB/TrEMBL
  ENST00000576541 UniProtKB/TrEMBL
Gene3D-CATH 3.40.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185624 GTEx
HGNC ID HGNC:8548 ENTREZGENE
Human Proteome Map P4HB Human Proteome Map
InterPro Disulphide_isomerase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_disulphide_isomerase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5034 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5034 ENTREZGENE
OMIM 112240 OMIM
  176790 OMIM
Pfam Thioredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32876 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
  THIOREDOXIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOREDOXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ER_PDI_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  pdi_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.464336 ENTREZGENE
UniProt A0A024R8S5 ENTREZGENE, UniProtKB/TrEMBL
  B3KTQ9_HUMAN UniProtKB/TrEMBL
  H0Y3Z3_HUMAN UniProtKB/TrEMBL
  H7BZ94_HUMAN UniProtKB/TrEMBL
  I3L0S0_HUMAN UniProtKB/TrEMBL
  I3L1Y5_HUMAN UniProtKB/TrEMBL
  I3L312_HUMAN UniProtKB/TrEMBL
  I3L398_HUMAN UniProtKB/TrEMBL
  I3L3P5_HUMAN UniProtKB/TrEMBL
  I3L3U6_HUMAN UniProtKB/TrEMBL
  I3L4M2_HUMAN UniProtKB/TrEMBL
  I3L514_HUMAN UniProtKB/TrEMBL
  I3NI03_HUMAN UniProtKB/TrEMBL
  P07237 ENTREZGENE, UniProtKB/Swiss-Prot
  Q96C96_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RDQ2 UniProtKB/Swiss-Prot
  P30037 UniProtKB/Swiss-Prot
  P32079 UniProtKB/Swiss-Prot
  Q15205 UniProtKB/Swiss-Prot
  Q6LDE5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 P4HB  prolyl 4-hydroxylase subunit beta    prolyl 4-hydroxylase, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-16 P4HB  prolyl 4-hydroxylase, beta polypeptide  P4HB  prolyl 4-hydroxylase, beta polypeptide  Symbol and/or name change 5135510 APPROVED

 



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