XRCC4 (X-ray repair cross complementing 4)

2003-02-01  

Identity

HGNC
XRCC4
LOCATION
5q14.2
LOCUSID
7518
ALIAS
SSMED
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7518
MIM: 194363
HGNC: 12831
Ensembl: ENSG00000152422

Variants:

dbSNP: 7518
ClinVar: 7518
TCGA: ENSG00000152422
COSMIC: XRCC4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152422ENST00000282268Q13426
ENSG00000152422ENST00000282268A0A024RAL0
ENSG00000152422ENST00000338635Q13426
ENSG00000152422ENST00000338635A0A024RAQ8
ENSG00000152422ENST00000396027Q13426
ENSG00000152422ENST00000396027A0A024RAL0
ENSG00000152422ENST00000511817Q13426
ENSG00000152422ENST00000511817A0A024RAQ8

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Non-homologous end-joiningKEGGko03450
Non-homologous end-joiningKEGGhsa03450
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Early Phase of HIV Life CycleREACTOMER-HSA-162594
Integration of provirusREACTOMER-HSA-162592
2-LTR circle formationREACTOMER-HSA-164843
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD28796378
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD28796378
PA166122986radiotherapyChemicalClinicalAnnotationassociatedPD28796378
PA29116H2AFXGenePathwayassociated
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPKPD20157331
PA445742Stomach NeoplasmsDiseaseClinicalAnnotationassociatedPD28796378
PA449383docetaxelChemicalClinicalAnnotationassociatedPKPD20157331

References

Pubmed IDYearTitleCitations
370991262024DNA Repair Enzyme XRCC4 30 bp Indel Intron 3 Locus Significant Association with Predisposition of Cataract in Senility.1
370991262024DNA Repair Enzyme XRCC4 30 bp Indel Intron 3 Locus Significant Association with Predisposition of Cataract in Senility.1
365243592023Genome stability‑related lncRNA ZFPM2‑AS1 promotes tumor progression via miR‑3065‑5p/XRCC4 in hepatocellular carcinoma.2
367652822023Systematic analysis identifies XRCC4 as a potential immunological and prognostic biomarker associated with pan-cancer.3
369407052023APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.1
379552302023Androgen signaling stabilizes genomes to counteract senescence by promoting XRCC4 transcription.1
365243592023Genome stability‑related lncRNA ZFPM2‑AS1 promotes tumor progression via miR‑3065‑5p/XRCC4 in hepatocellular carcinoma.2
367652822023Systematic analysis identifies XRCC4 as a potential immunological and prognostic biomarker associated with pan-cancer.3
369407052023APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.1
379552302023Androgen signaling stabilizes genomes to counteract senescence by promoting XRCC4 transcription.1
349904002022Dysregulation of X-ray repair cross-complementing 4 expression in the eutopic endometrium of women with endometriosis.2
350547802022XRCC4 and MRE11 Roles and Transcriptional Response to Repair of TALEN-Induced Double-Strand DNA Breaks.1
349904002022Dysregulation of X-ray repair cross-complementing 4 expression in the eutopic endometrium of women with endometriosis.2
350547802022XRCC4 and MRE11 Roles and Transcriptional Response to Repair of TALEN-Induced Double-Strand DNA Breaks.1
337254862021Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane.8

Citation

Dessen P

XRCC4 (X-ray repair cross complementing 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/336/gene-explorer/css/card-gene.css