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Gene: ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) Homo sapiens
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Symbol: ERCC3
Name: ERCC excision repair 3, TFIIH core complex helicase subunit
Description: This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic transcription factor 2 89 kDa subunit; BTF2; BTF2 p89; DNA excision repair protein ERCC-3; DNA repair helicase; DNA repair protein complementing XP-B cells; excision repair cross-complementation group 3; excision repair cross-complementing rodent repair deficiency, complementation group 3; excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing); general transcription and DNA repair factor IIH helicase subunit XPB; GTF2H; RAD25; TFIIH; TFIIH 89 kDa subunit; TFIIH basal transcription factor complex 89 kDa subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH p89; TFIIH subunit XPB; TTD2; xeroderma pigmentosum group B complementing; xeroderma pigmentosum group B-complementing protein; xeroderma pigmentosum, complementation group B; XPB
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382127,257,290 - 127,294,176 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372128,014,866 - 128,051,752 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362127,731,336 - 127,768,222 (-)NCBINCBI36hg18NCBI36
Build 342127,731,095 - 127,767,982NCBI
Celera2121,326,339 - 121,363,248 (-)NCBI
Cytogenetic Map2q14.3NCBI
HuRef2120,322,147 - 120,359,036 (-)NCBIHuRef
CHM1_12128,019,440 - 128,056,319 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - uncurated
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Genomics

Comparative Map Data
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miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ERCC3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1316156
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
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.