Seroatlas · Human Serome Atlas

ERCC2

General transcription and DNA repair factor IIH helicase subunit XPD

Also known as: EM9, ERCC2_HUMAN, MAG, MGC102762, MGC126218, MGC126219, XPD

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P18074
Gene
ERCC2
Ensembl
ENSG00000104884
Chromosome
19
Canonical length
760 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

760 residues, UniProt reviewed canonical sequence.

>P18074|ERCC2
     1  MKLNVDGLLV YFPYDYIYPE QFSYMRELKR TLDAKGHGVL EMPSGTGKTV SLLALIMAYQ
    61  RAYPLEVTKL IYCSRTVPEI EKVIEELRKL LNFYEKQEGE KLPFLGLALS SRKNLCIHPE
   121  VTPLRFGKDV DGKCHSLTAS YVRAQYQHDT SLPHCRFYEE FDAHGREVPL PAGIYNLDDL
   181  KALGRRQGWC PYFLARYSIL HANVVVYSYH YLLDPKIADL VSKELARKAV VVFDEAHNID
   241  NVCIDSMSVN LTRRTLDRCQ GNLETLQKTV LRIKETDEQR LRDEYRRLVE GLREASAARE
   301  TDAHLANPVL PDEVLQEAVP GSIRTAEHFL GFLRRLLEYV KWRLRVQHVV QESPPAFLSG
   361  LAQRVCIQRK PLRFCAERLR SLLHTLEITD LADFSPLTLL ANFATLVSTY AKGFTIIIEP
   421  FDDRTPTIAN PILHFSCMDA SLAIKPVFER FQSVIITSGT LSPLDIYPKI LDFHPVTMAT
   481  FTMTLARVCL CPMIIGRGND QVAISSKFET REDIAVIRNY GNLLLEMSAV VPDGIVAFFT
   541  SYQYMESTVA SWYEQGILEN IQRNKLLFIE TQDGAETSVA LEKYQEACEN GRGAILLSVA
   601  RGKVSEGIDF VHHYGRAVIM FGVPYVYTQS RILKARLEYL RDQFQIREND FLTFDAMRHA
   661  AQCVGRAIRG KTDYGLMVFA DKRFARGDKR GKLPRWIQEH LTDANLNLTV DEGVQVAKYF
   721  LRQMAQPFHR EDQLGLSLLS LEQLESEETL KRIEQIAQQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERCC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.21
Highest tissue expression
9.7 nTPM

Expression across tissuesHPA

Tissue

  • testis: 9.7 nTPM
  • adrenal gland: 9 nTPM
  • cerebral cortex: 8.5 nTPM
  • pituitary gland: 7.6 nTPM
  • liver: 6.9 nTPM
  • amygdala: 6.8 nTPM

Single-cell type

  • oocytes: 115 nCPM
  • early primary spermatocytes: 49 nCPM
  • adrenal medulla cells: 32 nCPM
  • gastric progenitor cells: 24 nCPM
  • retinal amacrine cells: 24 nCPM
  • paneth cells: 23 nCPM

Immune cell

  • myeloid DC: 14 nTPM
  • classical monocyte: 12 nTPM
  • intermediate monocyte: 12 nTPM
  • NK-cell: 10 nTPM
  • non-classical monocyte: 10 nTPM
  • MAIT T-cell: 8.1 nTPM

Brain region

  • cerebral cortex: 20 nTPM
  • hippocampal formation: 19 nTPM
  • medulla oblongata: 18 nTPM
  • amygdala: 18 nTPM
  • midbrain: 18 nTPM
  • thalamus: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERCC2.

Disease | AllUniProt

Conditions ERCC2 is implicated in, by any mechanism.

  • Xeroderma pigmentosum complementation group D (XP-D) MIM:278730
  • Trichothiodystrophy 1, photosensitive (TTD1) MIM:601675
  • Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) MIM:610756

Disease | GeneticClinVar

227 pathogenic / likely-pathogenic of 2,370 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | AutoantibodyPubMed

Conditions in which antibodies against ERCC2 are reported. Each links to that disease's full target list.

Showing 11 of 15 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for ERCC2 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

144 publications

Show 20 more of 144 total

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.09
gnomAD pLI
0
gnomAD missense Z
0.38
DepMap mean gene effect
-0.77
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ERCC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ERCC2 as an antibody target. Whether an autoantibody or antibody against ERCC2 could matter depends on whether native ERCC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERCC2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ERCC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ERCC2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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