ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) - Chinchilla Research Resource Database
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Gene: ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) Pan paniscus
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Symbol: ERCC2
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
CRRD ID: 11975918
Description: ENCODES a protein that exhibits 5'-3' DNA helicase activity (ortholog); protein C-terminus binding (ortholog); protein N-terminus binding (ortholog); INVOLVED IN aging (ortholog); apoptotic process (ortholog); bone mineralization (ortholog); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH acoustic neuroma (ortholog); acquired immunodeficiency syndrome (ortholog); acute leukemia (ortholog); FOUND IN CAK-ERCC2 complex (ortholog); cytoplasm (ortholog); cytosol (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Also known as: excision repair cross-complementing rodent repair deficiency, complementation group 2; general transcription and DNA repair factor IIH helicase subunit XPD; TFIIH basal transcription factor complex helicase XPD subunit
Orthologs:
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11950,897,004 - 50,915,849 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1950,897,004 - 50,915,819 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01942,298,927 - 42,319,816 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acoustic neuroma  (ISO)
acquired immunodeficiency syndrome  (ISO)
acute leukemia  (ISO)
acute lymphoblastic leukemia  (ISO)
acute myeloid leukemia  (ISO)
Alzheimer's disease  (ISO)
Anthracycline-induced Cardiotoxicity  (ISO)
asphyxia neonatorum  (ISO)
autosomal recessive congenital ichthyosis  (ISO)
B-Cell Chronic Lymphocytic Leukemia  (ISO)
breast cancer  (ISO)
Breast Neoplasms  (ISO)
cataract  (ISO)
Cerebrooculofacioskeletal Syndrome 1  (ISO)
Cerebrooculofacioskeletal Syndrome 2  (ISO)
Chromosome Aberrations  (ISO)
chronic myeloid leukemia  (ISO)
Cockayne syndrome  (ISO)
Colorectal Neoplasms  (ISO)
coronary artery disease  (ISO)
Down syndrome  (ISO)
Drug-induced Neutropenia  (ISO)
Drug-Related Side Effects and Adverse Reactions  (ISO)
dystonia  (ISO)
Endometrial Neoplasms  (ISO)
epidermolytic hyperkeratosis  (ISO)
Gallbladder Neoplasms  (ISO)
genetic disease  (ISO)
Head and Neck Neoplasms  (ISO)
hepatocellular carcinoma  (ISO)
intellectual disability  (ISO)
Lung Neoplasms  (ISO)
lung non-small cell carcinoma  (ISO)
macular degeneration  (ISO)
malignant glioma  (ISO)
melanoma  (ISO)
metachromatic leukodystrophy  (ISO)
Mouth Neoplasms  (ISO)
multiple myeloma  (ISO)
myelodysplastic syndrome  (ISO)
myelofibrosis  (ISO)
Occupational Diseases  (ISO)
oral mucosa leukoplakia  (ISO)
osteosarcoma  (ISO)
ovarian carcinoma  (ISO)
Ovarian Neoplasms  (ISO)
ovary epithelial cancer  (ISO)
pancreatic cancer  (ISO)
Parkinsonian Disorders  (ISO)
photosensitive trichothiodystrophy 1  (ISO)
prostate cancer  (ISO)
Prostatic Neoplasms  (ISO)
psychotic disorder  (ISO)
senile cataract  (ISO)
Skin Abnormalities  (ISO)
skin disease  (ISO)
Skin Neoplasms  (ISO)
squamous cell carcinoma  (ISO)
stomach cancer  (ISO)
Stomach Neoplasms  (ISO)
Sunburn  (ISO)
trichothiodystrophy  (ISO)
urinary bladder cancer  (ISO)
xeroderma pigmentosum  (ISO)
xeroderma pigmentosum group D  (ISO)


Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Genomics

Comparative Map Data
ERCC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11950,897,004 - 50,915,849 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1950,897,004 - 50,915,819 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01942,298,927 - 42,319,816 (-)NCBI
ERCC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1945,349,837 - 45,370,918 (-)EnsemblGRCh38hg38GRCh38
GRCh381945,349,837 - 45,370,647 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371945,854,649 - 45,873,845 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,546,686 - 50,565,669 (-)NCBINCBI36hg18NCBI36
Build 341950,546,685 - 50,565,669NCBI
Celera1942,660,603 - 42,679,799 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1942,287,494 - 42,306,749 (-)NCBIHuRef
CHM1_11945,857,950 - 45,877,144 (-)NCBICHM1_1
Ercc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39719,115,942 - 19,129,619 (+)NCBI
GRCm38719,382,017 - 19,395,694 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,382,010 - 19,395,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv37719,967,388 - 19,981,041 (+)NCBIGRCm37mm9NCBIm37
MGSCv36718,540,561 - 18,554,214 (+)NCBImm8
Celera716,788,799 - 16,802,456 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.62NCBI
Ercc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0180,293,574 - 80,307,334 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,293,566 - 80,307,344 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,559,883 - 81,573,643 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera173,495,273 - 73,509,033 (+)NCBICelera
Cytogenetic Map1q21NCBI
Ercc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555552,355,005 - 2,369,599 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,355,005 - 2,369,599 (-)NCBIChiLan1.0ChiLan1.0
ERCC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1110,173,715 - 110,190,125 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11110,173,781 - 110,191,612 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ercc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049367061,816,561 - 1,829,638 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERCC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl651,734,319 - 51,779,624 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1651,734,318 - 51,757,508 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ERCC2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl638,801,423 - 38,823,073 (-)Ensembl
ChlSab1.1638,804,296 - 38,823,229 (-)NCBI
Ercc2
(Heterocephalus glaber - naked mole-rat)
No map positions available.


Expression


Sequence


Reference Sequences
RefSeq Acc Id: XM_003817527   ⟹   XP_003817575
RefSeq Status:
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.11950,897,004 - 50,915,849 (-)NCBI
Mhudiblu_PPA_v01942,300,750 - 42,319,815 (-)NCBI
Sequence:
RefSeq Acc Id: XM_008970744   ⟹   XP_008968992
RefSeq Status:
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.11950,897,004 - 50,915,767 (-)NCBI
Mhudiblu_PPA_v01942,298,927 - 42,319,596 (-)NCBI
Sequence:
RefSeq Acc Id: XM_014342706   ⟹   XP_014198192
RefSeq Status:
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.11950,897,004 - 50,915,820 (-)NCBI
Mhudiblu_PPA_v01942,298,927 - 42,319,753 (-)NCBI
Sequence:
RefSeq Acc Id: XM_034944430   ⟹   XP_034800321
RefSeq Status:
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
Mhudiblu_PPA_v01942,298,927 - 42,319,816 (-)NCBI
RefSeq Acc Id: XM_034944431   ⟹   XP_034800322
RefSeq Status:
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
Mhudiblu_PPA_v01942,298,927 - 42,319,597 (-)NCBI
RefSeq Acc Id: XM_034944432   ⟹   XP_034800323
RefSeq Status:
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
Mhudiblu_PPA_v01942,303,892 - 42,319,753 (-)NCBI
Reference Sequences
RefSeq Acc Id: XP_014198192   ⟸   XM_014342706
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_003817575   ⟸   XM_003817527
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_008968992   ⟸   XM_008970744
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_034800321   ⟸   XM_034944430
- Peptide Label: isoform X4
RefSeq Acc Id: XP_034800322   ⟸   XM_034944431
- Peptide Label: isoform X5
RefSeq Acc Id: XP_034800323   ⟸   XM_034944432
- Peptide Label: isoform X6
Protein Domains
Helicase ATP-binding


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000044005 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSPPAP00000042917 ENTREZGENE, UniProtKB/TrEMBL
  ENSPPAP00000042918 UniProtKB/TrEMBL
  ENSPPAP00000042919 UniProtKB/TrEMBL
  ENSPPAP00000042920 UniProtKB/TrEMBL
  ENSPPAP00000042921 UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000065850 UniProtKB/TrEMBL
  ENSPPAT00000065851 UniProtKB/TrEMBL
  ENSPPAT00000065852 UniProtKB/TrEMBL
  ENSPPAT00000065853 UniProtKB/TrEMBL
  ENSPPAT00000065854 UniProtKB/TrEMBL
InterPro ATP-dep_Helicase_C UniProtKB/TrEMBL
  DEAD_2 UniProtKB/TrEMBL
  DNA/RNA_helicase_DEAH_CS UniProtKB/TrEMBL
  HBB UniProtKB/TrEMBL
  Helic_SF1/SF2_ATP-bd_DinG/Rad3 UniProtKB/TrEMBL
  Helicase-like_DEXD_c2 UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/TrEMBL
  Rad3/Chl1-like UniProtKB/TrEMBL
  RAD3/XPD UniProtKB/TrEMBL
KEGG Report pps:100990628 UniProtKB/TrEMBL
NCBI Gene ERCC2 ENTREZGENE
PANTHER PTHR11472:SF1 UniProtKB/TrEMBL
Pfam DEAD_2 UniProtKB/TrEMBL
  HBB UniProtKB/TrEMBL
  Helicase_C_2 UniProtKB/TrEMBL
PRINTS XRODRMPGMNTD UniProtKB/TrEMBL
PROSITE DEAH_ATP_HELICASE UniProtKB/TrEMBL
  HELICASE_ATP_BIND_2 UniProtKB/TrEMBL
SMART DEXDc2 UniProtKB/TrEMBL
  HELICc2 UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/TrEMBL
TIGRFAMs rad3 UniProtKB/TrEMBL
UniProt A0A2R9CLQ5_PANPA UniProtKB/TrEMBL
  A0A2R9CLS3_PANPA UniProtKB/TrEMBL
  A0A2R9CLU5_PANPA UniProtKB/TrEMBL
  A0A2R9CNS1_PANPA UniProtKB/TrEMBL
  A0A2R9CT99_PANPA UniProtKB/TrEMBL

 



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.