XRCC4 (X-ray repair cross complementing 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7518
Gene name Gene Name - the full gene name approved by the HGNC.
X-ray repair cross complementing 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XRCC4
Synonyms (NCBI Gene) Gene synonyms aliases
SSMED, hXRCC4
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.2
Summary Summary of gene provided in NCBI Entrez 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.
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
194363 12831 ENSG00000152422
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Non-homologous end-joining   2-LTR circle formation
SUMOylation of DNA damage response and repair proteins
Nonhomologous End-Joining (NHEJ)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Short Stature, Microcephaly, And Endocrine Dysfunction short stature, microcephaly, and endocrine dysfunction rs587779351, rs869320677, rs797045016, rs869320678, rs768825050, rs779773463, rs879255258, rs797045017, rs879255259, rs991596636 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer hereditary nonpolyposis colon cancer N/A N/A GenCC
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome microcephalic primordial dwarfism-insulin resistance syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (66)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34486486
Autosomal Recessive Primary Microcephaly Associate 25839420
Brain Neoplasms Associate 27613841
Breast Neoplasms Associate 16091150, 18383855, 20496165, 24062231, 25360583, 25501155, 27571987, 31030479, 33017027
Breast Neoplasms Stimulate 33184404
Carcinogenesis Associate 18383855, 18630527, 19443403, 19729825, 24378850, 30429230
Carcinoma Adenoid Cystic Associate 26035306
Carcinoma Hepatocellular Stimulate 25337275
Carcinoma Hepatocellular Associate 25337275, 32258128, 36524359
Carcinoma Non Small Cell Lung Associate 19408343, 23924833