XRCC4 (X-ray repair cross complementing 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 7518
Gene name X-ray repair cross complementing 4
Gene symbol XRCC4
Synonyms (NCBI Gene)
SSMEDhXRCC4
Chromosome 5
Chromosome location 5q14.2
Summary 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.
SNPs SNP information provided by dbSNP.
10
Gene SNPs Other IDs Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs587779351 T>C Pathogenic Coding sequence variant, missense variant
rs768825050 C>T Pathogenic Coding sequence variant, stop gained
rs779773463 C>T Pathogenic Coding sequence variant, stop gained
rs797045016 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained
rs797045017 G>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
9
Gene SNPs Other IDs Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT1497385 hsa-miR-3121-5p CLIP-seq
MIRT1497386 hsa-miR-3657 CLIP-seq
MIRT1497387 hsa-miR-4517 CLIP-seq
MIRT1497388 hsa-miR-4669 CLIP-seq
MIRT2441710 hsa-miR-203 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene SNPs Other IDs Associated diseases
Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0000793 Component Condensed chromosome IDA 12589063
GO:0003677 Function DNA binding EXP 38898102
GO:0003677 Function DNA binding IDA 9259561
GO:0005515 Function Protein binding IPI 9259561, 9809069, 11702069, 15380105, 15385968, 16189514, 16275660, 16439205, 16713569, 17124166, 17290226, 17353262, 17389648, 17396150, 18064046, 18158905, 21070942, 21349273, 21637298, 21768349, 22529269, 22658747, 23178593, 23219551, 24095731, 25416956, 25910212, 25934149, 26496
GO:0005634 Component Nucleus IDA 25597996
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
194363 12831 ENSG00000152422
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13426
Protein name DNA repair protein XRCC4 (hXRCC4) (X-ray repair cross-complementing protein 4) [Cleaved into: Protein XRCC4, C-terminus (XRCC4/C)]
Protein function [DNA repair protein XRCC4]: DNA non-homologous end joining (NHEJ) core factor, required for double-strand break repair and V(D)J recombination (PubMed:10757784, PubMed:10854421, PubMed:12517771, PubMed:16412978, PubMed:17124166, PubMed:17290226,
PDB 1FU1 , 1IK9 , 3II6 , 3MUD , 3Q4F , 3RWR , 3SR2 , 3W03 , 4XA4 , 5CHX , 5CJ0 , 5CJ4 , 5E50 , 5WJ7 , 5WLZ , 6ABO , 7LSY , 7LT3 , 7M3P , 7NFC , 7NFE , 8BH3 , 8BHV , 8BHY , 8BOT , 8EZA , 8EZB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06632 XRCC4 1 → 334 DNA double-strand break repair and V(D)J recombination protein XRCC4 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8548796}.
Sequence
Sequence length 336
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Gene SNPs Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ateleiotic dwarfism Likely pathogenic; Pathogenic rs587779351 RCV000115044
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature, microcephaly, and endocrine dysfunction Likely pathogenic; Pathogenic rs772562216, rs587779351, rs986271387, rs869320677, rs797045016, rs869320678, rs768825050, rs779773463, rs879255258, rs797045017, rs879255259, rs1746416323, rs991596636 RCV001536009
RCV001797975
RCV000190521
RCV005036653
RCV000190522
View all (9 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XRCC4-related disorder Likely pathogenic; Pathogenic rs587779351, rs779773463 RCV004748579
RCV003401038
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (14)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (179)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20232359
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 21785230
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 24378850, 27852033
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 27064873
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Primary Microcephaly Primary microcephaly Pubtator 25839420 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 17557904, 19443403, 21617942
★★★★★
★☆☆☆☆
Found in Text Mining only