Seroatlas · Human Serome Atlas

XRCC4

DNA repair protein XRCC4

Also known as: XRCC4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q13426
Gene
XRCC4
Ensembl
ENSG00000152422
Chromosome
5
Canonical length
336 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm
Quaternary structure
Homotetramer

OverviewNCBI Gene

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

Canonical amino-acid sequenceUniProt

336 residues, UniProt reviewed canonical sequence.

>Q13426|XRCC4
     1  MERKISRIHL VSEPSITHFL QVSWEKTLES GFVITLTDGH SAWTGTVSES EISQEADDMA
    61  MEKGKYVGEL RKALLSGAGP ADVYTFNFSK ESCYFFFEKN LKDVSFRLGS FNLEKVENPA
   121  EVIRELICYC LDTIAENQAK NEHLQKENER LLRDWNDVQG RFEKCVSAKE ALETDLYKRF
   181  ILVLNEKKTK IRSLHNKLLN AAQEREKDIK QEGETAICSE MTADRDPVYD ESTDEESENQ
   241  TDLSGLASAA VSKDDSIISS LDVTDIAPSR KRRQRMQRNL GTEPKMAPQE NQLQEKENSR
   301  PDSSLPETSK KEHISAENMS LETLRNSSPE DLFDEI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against XRCC4 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)
0.5
Highest tissue expression
9.5 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 9.5 nTPM
  • tonsil: 8.4 nTPM
  • testis: 8.2 nTPM
  • lymph node: 7.9 nTPM
  • heart muscle: 7.4 nTPM
  • duodenum: 7.1 nTPM

Single-cell type

  • neutrophils: 290 nCPM
  • neutrophil progenitors: 211 nCPM
  • monocyte progenitors: 204 nCPM
  • sertoli cells: 140 nCPM
  • monocytes: 120 nCPM
  • megakaryocyte progenitors: 96 nCPM

Immune cell

  • intermediate monocyte: 26 nTPM
  • non-classical monocyte: 26 nTPM
  • basophil: 18 nTPM
  • classical monocyte: 17 nTPM
  • neutrophil: 17 nTPM
  • NK-cell: 15 nTPM

Brain region

  • white matter: 3.7 nTPM
  • spinal cord: 3.6 nTPM
  • hypothalamus: 3.5 nTPM
  • medulla oblongata: 3.5 nTPM
  • hippocampal formation: 3.4 nTPM
  • pons: 3.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about XRCC4.

Disease | AllUniProt

Conditions XRCC4 is implicated in, by any mechanism.

  • Short stature, microcephaly, and endocrine dysfunction (SSMED) MIM:616541

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 191 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Short stature, microcephaly, and endocrine dysfunction
  • XRCC4-related disorder
  • Ateleiotic dwarfism

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
0.3
DepMap mean gene effect
-0.28
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 XRCC4 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 XRCC4 as an antibody target. Whether an autoantibody or antibody against XRCC4 could matter depends on whether native XRCC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

XRCC4 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 XRCC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/XRCC4. 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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