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ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit [ Homo sapiens (human) ]

Gene ID: 2068, updated on 20-Feb-2017
Official Symbol
ERCC2provided by HGNC
Official Full Name
ERCC excision repair 2, TFIIH core complex helicase subunitprovided by HGNC
Primary source
HGNC:HGNC:3434
See related
Ensembl:ENSG00000104884 MIM:126340; Vega:OTTHUMG00000048190
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EM9; TTD; XPD; TTD1; COFS2; TFIIH
Summary
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Orthologs
Location:
19q13.32
Exon count:
24
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (45349837..45370647, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45854649..45873845, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene creatine kinase, M-type Neighboring gene ribosomal protein S16 pseudogene 9 Neighboring gene kinesin light chain 3 Neighboring gene protein phosphatase 1 regulatory subunit 13 like Neighboring gene CD3e molecule associated protein Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit Neighboring gene microRNA 6088

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cerebrooculofacioskeletal syndrome 2
MedGen: C1853102 OMIM: 610756 GeneReviews: Not available
Compare labs
Trichothiodystrophy 1, photosensitive
MedGen: C1866504 OMIM: 601675 GeneReviews: Not available
Compare labs
Xeroderma pigmentosum, group D
MedGen: C0268138 OMIM: 278730 GeneReviews: Xeroderma Pigmentosum
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
rev The interaction of Rev with ERCC2 is increased by the presence of RRE PubMed
Tat tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed
tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC102762, MGC126218, MGC126219

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
5'-3' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-dependent ATPase activity TAS
Traceable Author Statement
more info
PubMed 
contributes_to RNA polymerase II carboxy-terminal domain kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
UV protection IGI
Inferred from Genetic Interaction
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
central nervous system myelin formation IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic cleavage IEA
Inferred from Electronic Annotation
more info
 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
erythrocyte maturation IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
global genome nucleotide-excision repair TAS
Traceable Author Statement
more info
 
hair cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
hair follicle maturation IEA
Inferred from Electronic Annotation
more info
 
hematopoietic stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair IGI
Inferred from Genetic Interaction
more info
PubMed 
nucleotide-excision repair NAS
Non-traceable Author Statement
more info
PubMed 
nucleotide-excision repair, DNA duplex unwinding TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex assembly TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex stabilization TAS
Traceable Author Statement
more info
 
positive regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
spinal cord development IEA
Inferred from Electronic Annotation
more info
 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MMXD complex IDA
Inferred from Direct Assay
more info
PubMed 
core TFIIH complex IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with cyclin-dependent protein kinase activating kinase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
holo TFIIH complex IDA
Inferred from Direct Assay
more info
PubMed 
holo TFIIH complex TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor TFIID complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
TFIIH basal transcription factor complex helicase XPD subunit
Names
BTF2 p80
CXPD
DNA excision repair protein ERCC-2
DNA repair protein complementing XP-D cells
TFIIH 80 kDa subunit
TFIIH basal transcription factor complex 80 kDa subunit
TFIIH basal transcription factor complex helicase XPB subunit
TFIIH basal transcription factor complex helicase subunit
TFIIH p80
basic transcription factor 2 80 kDa subunit
excision repair cross-complementation group 2
excision repair cross-complementing rodent repair deficiency, complementation group 2
xeroderma pigmentosum complementary group D
xeroderma pigmentosum group D-complementing protein
NP_000391.1
NP_001124339.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007067.2 RefSeqGene

    Range
    5001..24197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_461

mRNA and Protein(s)

  1. NM_000400.3NP_000391.1  TFIIH basal transcription factor complex helicase XPD subunit isoform 1

    See identical proteins and their annotated locations for NP_000391.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC108255, CN388234, DA409300
    Consensus CDS
    CCDS33049.1
    UniProtKB/Swiss-Prot
    P18074
    Related
    ENSP00000375809, OTTHUMP00000045860, ENST00000391945, OTTHUMT00000109626
    Conserved Domains (4) summary
    smart00488
    Location:8280
    DEXDc2; DEAD-like helicases superfamily
    smart00491
    Location:542686
    HELICc2; helicase superfamily c-terminal domain
    TIGR00604
    Location:7708
    rad3; DNA repair helicase (rad3)
    pfam06777
    Location:272413
    HBB; Helical and beta-bridge domain
  2. NM_001130867.1NP_001124339.1  TFIIH basal transcription factor complex helicase XPD subunit isoform 2

    See identical proteins and their annotated locations for NP_001124339.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional segment in the 5' region, which results in a downstream AUG start codon, and lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus and a distinct and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AL535248, BC008346, BG719746, BT006883, DA409300
    Consensus CDS
    CCDS46112.1
    UniProtKB/Swiss-Prot
    P18074
    Related
    ENSP00000431229, OTTHUMP00000267449, ENST00000485403, OTTHUMT00000457577
    Conserved Domains (2) summary
    smart00488
    Location:1256
    DEXDc2; DEAD-like helicases superfamily
    pfam06777
    Location:248389
    HBB; Helical and beta-bridge domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

    Range
    45349837..45370647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526611.2XP_011524913.1  TFIIH basal transcription factor complex helicase XPD subunit isoform X1

    Conserved Domains (4) summary
    smart00488
    Location:8254
    DEXDc2; DEAD-like helicases superfamily
    smart00491
    Location:516660
    HELICc2; helicase superfamily c-terminal domain
    TIGR00604
    Location:7682
    rad3; DNA repair helicase (rad3)
    pfam06777
    Location:246387
    HBB; Helical and beta-bridge domain
  2. XM_017026467.1XP_016881956.1  TFIIH basal transcription factor complex helicase XPD subunit isoform X2

RNA

  1. XR_001753633.1 RNA Sequence

  2. XR_001753634.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    45857950..45877144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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