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Gene: ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) Homo sapiens
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Symbol: ERCC2
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
Description: Exhibits several functions, including 5'-3' DNA helicase activity; protein C-terminus binding activity; and protein N-terminus binding activity. Contributes to DNA-dependent ATPase activity and RNA polymerase II CTD heptapeptide repeat kinase activity. Involved in several processes, including UV protection; hair cell differentiation; and nucleotide-excision repair. Localizes to several cellular components, including the CAK-ERCC2 complex; MMXD complex; and RNA polymerase II, holoenzyme. Implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; endocrine gland cancer (multiple); hematologic cancer (multiple); and xeroderma pigmentosum (multiple). Biomarker of Alzheimer's disease and Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic transcription factor 2 80 kDa subunit; BTF2 p80; COFS2; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; EM9; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; general transcription and DNA repair factor IIH helicase subunit XPD; MGC102762; MGC126218; MGC126219; TFIIH; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH basal transcription factor complex helicase XPD subunit; TFIIH p80; TFIIH subunit XPD; trichothiodystrophy; TTD; TTD1; xeroderma pigmentosum complementary group D; xeroderma pigmentosum group D-complementing protein; XPD
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1945,349,837 - 45,370,918 (-)Ensembl
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ERCC2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1319264
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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