FZD6 (frizzled class receptor 6) - Chinchilla Research Resource Database
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Gene: FZD6 (frizzled class receptor 6) Homo sapiens
Analyze
Symbol: FZD6
Name: frizzled class receptor 6
CRRD ID: 1343855
Description: Exhibits Wnt-activated receptor activity and ubiquitin protein ligase binding activity. Involved in negative regulation of DNA-binding transcription factor activity; negative regulation of canonical Wnt signaling pathway; and non-canonical Wnt signaling pathway. Localizes to plasma membrane. Implicated in nonsyndromic congenital nail disorder 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: frizzled 6, seven transmembrane spanning receptor; frizzled family receptor 6; frizzled homolog 6; frizzled-6; FZ-6; FZ6; Hfz6; NDNC1; NDNC10; seven transmembrane helix receptor
Orthologs:
Mus musculus (house mouse) : Fzd6 (frizzled class receptor 6)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fzd6 (frizzled class receptor 6)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fzd6 (frizzled class receptor 6)
Pan paniscus (bonobo/pygmy chimpanzee) : FZD6 (frizzled class receptor 6)
Canis lupus familiaris (dog) : FZD6 (frizzled class receptor 6)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fzd6 (frizzled class receptor 6)
Sus scrofa (pig) : FZD6 (frizzled class receptor 6)
Chlorocebus sabaeus (African green monkey) : FZD6 (frizzled class receptor 6)
Heterocephalus glaber (naked mole-rat) : Fzd6 (frizzled class receptor 6)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,298,433 - 103,332,866 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,298,494 - 103,332,866 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,310,661 - 104,345,094 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,380,276 - 104,414,270 (+)NCBINCBI36hg18NCBI36
Build 348104,380,275 - 104,414,268NCBI
Celera8100,497,508 - 100,531,944 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,511,909 - 99,546,152 (+)NCBIHuRef
CHM1_18104,351,658 - 104,386,105 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1927703   PMID:8626800   PMID:9480858   PMID:10347172   PMID:12477932   PMID:14747478   PMID:15265686   PMID:15370539   PMID:15489334   PMID:16344560   PMID:17516841   PMID:18029348  
PMID:18234671   PMID:19034702   PMID:19322201   PMID:19453261   PMID:19543507   PMID:21665003   PMID:21873635   PMID:21937024   PMID:22045688   PMID:22078044   PMID:22211385   PMID:22249030  
PMID:22575959   PMID:22861124   PMID:23374899   PMID:23748645   PMID:24431302   PMID:24500924   PMID:24657404   PMID:24816679   PMID:25772759   PMID:26186194   PMID:26439863   PMID:26496610  
PMID:26638075   PMID:27698350   PMID:27786367   PMID:27859262   PMID:28514442   PMID:28545862   PMID:28790300   PMID:29535420   PMID:29867083   PMID:30237173   PMID:30309985   PMID:30639242  
PMID:30642273   PMID:30833544   PMID:31073040   PMID:32356230  


Genomics

Comparative Map Data
FZD6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,298,433 - 103,332,866 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,298,494 - 103,332,866 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,310,661 - 104,345,094 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,380,276 - 104,414,270 (+)NCBINCBI36hg18NCBI36
Build 348104,380,275 - 104,414,268NCBI
Celera8100,497,508 - 100,531,944 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,511,909 - 99,546,152 (+)NCBIHuRef
CHM1_18104,351,658 - 104,386,105 (+)NCBICHM1_1
Fzd6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391538,869,667 - 38,901,587 (+)NCBI
GRCm381539,006,149 - 39,038,192 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1539,006,034 - 39,038,188 (+)EnsemblGRCm38mm10GRCm38
MGSCv371538,837,826 - 38,869,738 (+)NCBIGRCm37mm9NCBIm37
MGSCv361538,836,426 - 38,868,266 (+)NCBImm8
Celera1539,491,330 - 39,523,038 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1515.22NCBI
Fzd6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0777,898,329 - 77,931,034 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl777,899,322 - 77,931,029 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0778,317,818 - 78,349,530 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4774,562,307 - 74,594,014 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1774,608,138 - 74,610,532 (+)NCBI
Celera767,111,454 - 67,143,157 (+)NCBICelera
Cytogenetic Map7q22NCBI
Fzd6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541727,465,701 - 27,494,790 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541727,465,730 - 27,493,752 (+)NCBIChiLan1.0ChiLan1.0
FZD6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18102,110,317 - 102,144,363 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8102,110,317 - 102,144,363 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0899,954,523 - 99,989,153 (+)NCBIMhudiblu_PPA_v0panPan3
FZD6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl134,733,017 - 4,772,115 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1134,732,541 - 4,771,294 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Fzd6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647040,416,254 - 40,454,717 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FZD6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl433,809,804 - 33,844,658 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1433,811,159 - 33,844,556 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2436,662,301 - 36,697,139 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FZD6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl898,154,196 - 98,188,069 (+)Ensembl
ChlSab1.1898,154,173 - 98,187,864 (+)NCBI
Fzd6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476319,861,837 - 19,888,626 (+)NCBI

Position Markers
SHGC-33320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,344,944 - 104,345,072UniSTSGRCh37
Build 368104,414,120 - 104,414,248RGDNCBI36
Celera8100,531,794 - 100,531,922RGD
Cytogenetic Map8q22.3-q23.1UniSTS
HuRef899,546,002 - 99,546,130UniSTS
GeneMap99-GB4 RH Map8437.9UniSTS
Whitehead-RH Map8574.0UniSTS
RH78755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,342,270 - 104,342,433UniSTSGRCh37
Build 368104,411,446 - 104,411,609RGDNCBI36
Celera8100,529,121 - 100,529,284RGD
Cytogenetic Map8q22.3-q23.1UniSTS
HuRef899,543,328 - 99,543,491UniSTS
GeneMap99-GB4 RH Map8436.3UniSTS
NCBI RH Map81010.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4020
Count of miRNA genes:754
Interacting mature miRNAs:889
Transcripts:ENST00000358755, ENST00000519011, ENST00000521195, ENST00000522484, ENST00000522566, ENST00000523739, ENST00000523933, ENST00000540287
Prediction methods:Miranda, Rnahybrid, Targetscan
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
Medium 1769 1371 1259 223 411 67 3363 911 872 314 1013 1575 172 1 1130 1826 6 1
Low 668 1032 460 394 902 391 990 1281 2851 102 441 38 3 74 961 1
Below cutoff 1 580 7 7 604 7 2 4 10 3 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_133921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB012911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB065702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF363578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU130184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU152862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW511572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD652975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC417200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC418286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358755   ⟹   ENSP00000351605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,298,898 - 103,332,866 (+)Ensembl
RefSeq Acc Id: ENST00000519011   ⟹   ENSP00000427733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,298,876 - 103,331,892 (+)Ensembl
RefSeq Acc Id: ENST00000521195   ⟹   ENSP00000428188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,299,954 - 103,331,786 (+)Ensembl
RefSeq Acc Id: ENST00000522484   ⟹   ENSP00000428301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,298,831 - 103,332,866 (+)Ensembl
RefSeq Acc Id: ENST00000522566   ⟹   ENSP00000429055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,298,433 - 103,332,817 (+)Ensembl
RefSeq Acc Id: ENST00000523739   ⟹   ENSP00000429528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,298,865 - 103,331,994 (+)Ensembl
RefSeq Acc Id: ENST00000523933   ⟹   ENSP00000428257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,298,865 - 103,329,971 (+)Ensembl
RefSeq Acc Id: NM_001164615   ⟹   NP_001158087
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,298,494 - 103,332,866 (+)NCBI
GRCh378104,310,661 - 104,345,094 (+)RGD
Celera8100,497,508 - 100,531,944 (+)RGD
HuRef899,511,909 - 99,546,152 (+)RGD
CHM1_18104,351,658 - 104,386,105 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164616   ⟹   NP_001158088
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,298,898 - 103,332,866 (+)NCBI
GRCh378104,310,661 - 104,345,094 (+)RGD
Celera8100,497,508 - 100,531,944 (+)RGD
HuRef899,511,909 - 99,546,152 (+)RGD
CHM1_18104,352,059 - 104,386,105 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317796   ⟹   NP_001304725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,298,898 - 103,332,866 (+)NCBI
CHM1_18104,352,059 - 104,386,105 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003506   ⟹   NP_003497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,298,898 - 103,332,866 (+)NCBI
GRCh378104,310,661 - 104,345,094 (+)RGD
Build 368104,380,276 - 104,414,270 (+)NCBI Archive
Celera8100,497,508 - 100,531,944 (+)RGD
HuRef899,511,909 - 99,546,152 (+)RGD
CHM1_18104,352,059 - 104,386,105 (+)NCBI
Sequence:
RefSeq Acc Id: NR_133921
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,298,831 - 103,332,866 (+)NCBI
CHM1_18104,352,059 - 104,386,105 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001158087   ⟸   NM_001164615
- Peptide Label: isoform a precursor
- UniProtKB: O60353 (UniProtKB/Swiss-Prot),   A0A024R9E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003497   ⟸   NM_003506
- Peptide Label: isoform a precursor
- UniProtKB: O60353 (UniProtKB/Swiss-Prot),   A0A024R9E9 (UniProtKB/TrEMBL),   B4E236 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158088   ⟸   NM_001164616
- Peptide Label: isoform b
- UniProtKB: O60353 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304725   ⟸   NM_001317796
- Peptide Label: isoform c
- UniProtKB: O60353 (UniProtKB/Swiss-Prot),   B4DL33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000427733   ⟸   ENST00000519011
RefSeq Acc Id: ENSP00000428188   ⟸   ENST00000521195
RefSeq Acc Id: ENSP00000429055   ⟸   ENST00000522566
RefSeq Acc Id: ENSP00000428301   ⟸   ENST00000522484
RefSeq Acc Id: ENSP00000428257   ⟸   ENST00000523933
RefSeq Acc Id: ENSP00000429528   ⟸   ENST00000523739
RefSeq Acc Id: ENSP00000351605   ⟸   ENST00000358755
Protein Domains
FZ   G_PROTEIN_RECEP_F2_4

Promoters
RGD ID:7213939
Promoter ID:EPDNEW_H12716
Type:initiation region
Name:FZD6_1
Description:frizzled class receptor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,298,898 - 103,298,958EPDNEW
RGD ID:6806780
Promoter ID:HG_KWN:61866
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_001164616,   UC003YLH.1,   UC003YLI.1,   UC003YLJ.1,   UC010MCD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368104,380,049 - 104,380,549 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003506.4(FZD6):c.1750G>T (p.Glu584Ter) single nucleotide variant Nail disease [RCV000077802]|Nail disorder, nonsyndromic congenital, 1 [RCV000023300] Chr8:103329863 [GRCh38]
Chr8:104342091 [GRCh37]
Chr8:8q22.3
pathogenic
NM_003506.4(FZD6):c.1531C>T (p.Arg511Cys) single nucleotide variant Nail disease [RCV000077801]|Nail disorder, nonsyndromic congenital, 1 [RCV000023301] Chr8:103328406 [GRCh38]
Chr8:104340634 [GRCh37]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 copy number gain See cases [RCV000050760] Chr8:101962098..103357772 [GRCh38]
Chr8:102974326..104370000 [GRCh37]
Chr8:103043502..104439176 [NCBI36]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) single nucleotide variant Non-immune hydrops fetalis [RCV000170581] Chr8:103324975 [GRCh38]
Chr8:104337203 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_003506.4(FZD6):c.286C>T (p.Arg96Cys) single nucleotide variant Nail disorder, nonsyndromic congenital, 1 [RCV001027647]|not provided [RCV000593548] Chr8:103318698 [GRCh38]
Chr8:104330926 [GRCh37]
Chr8:8q22.3
pathogenic|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003506.4(FZD6):c.346C>T (p.Arg116Ter) single nucleotide variant Nephroblastoma [RCV000505681]|not provided [RCV000578928] Chr8:103318758 [GRCh38]
Chr8:104330986 [GRCh37]
Chr8:8q22.3
pathogenic|other
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:104221791-104770147)x3 copy number gain not provided [RCV000682982] Chr8:104221791..104770147 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.10:g.104306192_104334440del28249 deletion Primary amenorrhea [RCV000754438] Chr8:103293964..103322212 [GRCh38]
Chr8:104306192..104334440 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103950997-104487840)x3 copy number gain not provided [RCV000747746] Chr8:103950997..104487840 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_003506.4(FZD6):c.1214G>A (p.Arg405Gln) single nucleotide variant Nail disorder, nonsyndromic congenital, 1 [RCV000988106] Chr8:103325320 [GRCh38]
Chr8:104337548 [GRCh37]
Chr8:8q22.3
benign
NM_003506.4(FZD6):c.1525C>T (p.Arg509Ter) single nucleotide variant Nail disorder, nonsyndromic congenital, 1 [RCV001027646] Chr8:103328400 [GRCh38]
Chr8:104340628 [GRCh37]
Chr8:8q22.3
pathogenic
NM_003506.4(FZD6):c.1312G>A (p.Glu438Lys) single nucleotide variant Nail disorder, nonsyndromic congenital, 1 [RCV001027648] Chr8:103325418 [GRCh38]
Chr8:104337646 [GRCh37]
Chr8:8q22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4044 AgrOrtholog
COSMIC FZD6 COSMIC
Ensembl Genes ENSG00000164930 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351605 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427733 UniProtKB/TrEMBL
  ENSP00000428188 UniProtKB/TrEMBL
  ENSP00000428257 UniProtKB/TrEMBL
  ENSP00000428301 UniProtKB/TrEMBL
  ENSP00000429055 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429528 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358755 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519011 UniProtKB/TrEMBL
  ENST00000521195 UniProtKB/TrEMBL
  ENST00000522484 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000522566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523739 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523933 UniProtKB/TrEMBL
Gene3D-CATH 1.10.2000.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164930 GTEx
HGNC ID HGNC:4044 ENTREZGENE
Human Proteome Map FZD6 Human Proteome Map
InterPro Frizzled/SFRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled/Smoothened_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FZ6_CRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FZD6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8323 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8323 ENTREZGENE
OMIM 161050 OMIM
  603409 OMIM
PANTHER PTHR11309 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11309:SF75 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Frizzled UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB FZD6 RGD, PharmGKB
PRINTS FRIZZLED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50038 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FRI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.591863 ENTREZGENE
  Hs.676099 ENTREZGENE
UniProt A0A024R9E9 ENTREZGENE, UniProtKB/TrEMBL
  B4DL33 ENTREZGENE, UniProtKB/TrEMBL
  B4E236 ENTREZGENE, UniProtKB/TrEMBL
  E5RGK8_HUMAN UniProtKB/TrEMBL
  E5RJG0_HUMAN UniProtKB/TrEMBL
  E5RJT4_HUMAN UniProtKB/TrEMBL
  FZD6_HUMAN UniProtKB/Swiss-Prot
  G5EA13_HUMAN UniProtKB/TrEMBL
  O60353 ENTREZGENE
UniProt Secondary B4DRN0 UniProtKB/Swiss-Prot
  Q6N0A5 UniProtKB/Swiss-Prot
  Q6P9C3 UniProtKB/Swiss-Prot
  Q8WXR9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-02-04 FZD6  frizzled class receptor 6  FZD6  frizzled family receptor 6  Symbol and/or name change 5135510 APPROVED
2011-07-27 FZD6  frizzled family receptor 6  FZD6  frizzled homolog 6 (Drosophila)  Symbol and/or name change 5135510 APPROVED