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

    Gene ID: 2068, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:3434
    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]
    Expression
    Ubiquitous expression in testis (RPKM 6.4), skin (RPKM 6.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERCC2 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45349837..45370573, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48177079..48197811, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45853095..45873831, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45811788-45811945 Neighboring gene heart enhancer 22 Neighboring gene creatine kinase, M-type Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10761 Neighboring gene ribosomal protein S16 pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 10062 Neighboring gene kinesin light chain 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45860553-45860719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45872585-45873426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45878599-45879436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45879437-45880275 Neighboring gene protein phosphatase 1 regulatory subunit 13 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45894822-45895340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45895341-45895857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45901839-45902837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45908213-45909008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14794 Neighboring gene RNA polymerase I subunit G Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC102762, MGC126218, MGC126219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables 5'-3' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 5'-3' DNA helicase activity TAS
    Traceable Author Statement
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in UV protection IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system myelin formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic cleavage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hair follicle maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleotide-excision repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitotic cell cycle phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transcription elongation by RNA polymerase I IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription initiation at RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    part_of CAK-ERCC2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MMXD complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIID complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIIH core complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIIH holo complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription factor TFIIH holo complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    general transcription and DNA repair factor IIH helicase subunit XPD
    Names
    BTF2 p80
    CXPD
    DNA 5'-3' helicase XPD
    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 XPD subunit
    TFIIH basal transcription factor complex helicase subunit
    TFIIH p80
    TFIIH subunit XPD
    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
    XP_011524913.1
    XP_047294349.1
    XP_054176156.1
    XP_054176157.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000400.4NP_000391.1  general transcription and DNA repair factor IIH helicase subunit XPD 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, L47234
      Consensus CDS
      CCDS33049.1
      UniProtKB/Swiss-Prot
      P18074, Q2TB78, Q2YDY2, Q7KZU6, Q8N721
      UniProtKB/TrEMBL
      A0A804HK53
      Related
      ENSP00000375809.4, ENST00000391945.10
      Conserved Domains (1) summary
      TIGR00604
      Location:7708
      rad3; DNA repair helicase (rad3)
    2. NM_001130867.2NP_001124339.1  general transcription and DNA repair factor IIH helicase subunit XPD 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/TrEMBL
      A0A804HL97
      Related
      ENSP00000431229.2, ENST00000485403.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45349837..45370573 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526611.3XP_011524913.1  general transcription and DNA repair factor IIH helicase subunit XPD isoform X1

      UniProtKB/TrEMBL
      A0A804HK53
      Related
      ENST00000682508.1
      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_047438393.1XP_047294349.1  general transcription and DNA repair factor IIH helicase subunit XPD isoform X2

      Related
      ENSP00000508260.1, ENST00000684458.1

    RNA

    1. XR_007066680.1 RNA Sequence

    2. XR_001753633.3 RNA Sequence

      Related
      ENST00000684218.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48177079..48197811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320181.1XP_054176156.1  general transcription and DNA repair factor IIH helicase subunit XPD isoform X1

    2. XM_054320182.1XP_054176157.1  general transcription and DNA repair factor IIH helicase subunit XPD isoform X2