Gene Gene information from NCBI Gene database.
Entrez ID 2547
Gene name X-ray repair cross complementing 6
Gene symbol XRCC6
Synonyms (NCBI Gene)
CTC75CTCBFG22P1KU70ML8TLAA
Chromosome 22
Chromosome location 22q13.2
Summary The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of non
miRNA miRNA information provided by mirtarbase database.
1451
miRTarBase ID miRNA Experiments Reference
MIRT048583 hsa-miR-100-5p CLASH 23622248
MIRT047271 hsa-miR-181b-5p CLASH 23622248
MIRT046859 hsa-miR-221-3p CLASH 23622248
MIRT045877 hsa-miR-128-3p CLASH 23622248
MIRT043624 hsa-miR-326 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
84
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000723 Process Telomere maintenance IBA
GO:0000723 Process Telomere maintenance IEA
GO:0000723 Process Telomere maintenance TAS 15824061, 18710952, 24095731
GO:0000725 Process Recombinational repair NAS 9362500
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
152690 4055 ENSG00000196419
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12956
Protein name X-ray repair cross-complementing protein 6 (EC 3.6.4.-) (EC 4.2.99.-) (5'-deoxyribose-5-phosphate lyase Ku70) (5'-dRP lyase Ku70) (70 kDa subunit of Ku antigen) (ATP-dependent DNA helicase 2 subunit 1) (ATP-dependent DNA helicase II 70 kDa subunit) (CTC b
Protein function Single-stranded DNA-dependent ATP-dependent helicase that plays a key role in DNA non-homologous end joining (NHEJ) by recruiting DNA-PK to DNA (PubMed:11493912, PubMed:12145306, PubMed:20493174, PubMed:2466842, PubMed:7957065, PubMed:8621488, P
PDB 1JEQ , 1JEY , 1JJR , 3RZX , 5Y3R , 6ERF , 6ERG , 6ERH , 6ZHA , 6ZHE , 7AXZ , 7K0Y , 7K1J , 7K1K , 7K1N , 7LSY , 7LT3 , 7NFC , 7NFE , 7SGL , 7SU3 , 7Z6O , 7Z87 , 7Z88 , 7ZT6 , 7ZVT , 7ZWA , 7ZYG , 8AG4 , 8AG5 , 8ASC , 8BH3 , 8BHV , 8BHY , 8BOT , 8EZA , 8EZB , 8RD4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03731 Ku_N 37 256 Ku70/Ku80 N-terminal alpha/beta domain Domain
PF02735 Ku 263 468 Ku70/Ku80 beta-barrel domain Domain
PF03730 Ku_C 472 557 Ku70/Ku80 C-terminal arm Family
PF02037 SAP 573 607 SAP domain Family
Sequence
Sequence length 609
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thymoma Likely benign rs144313964 RCV005928976
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 36312587
Adenocarcinoma of Lung Associate 34486486
Adenocarcinoma of Lung Stimulate 39769336
Alzheimer Disease Associate 32560738
Arthritis Rheumatoid Associate 36835215
Breast Neoplasms Associate 17617666, 19219618, 20496270, 33734613, 36253742
Carcinogenesis Associate 12324457, 17617666, 21575261
Carcinoma Hepatocellular Associate 21410269, 32258128, 33006365
Carcinoma Non Small Cell Lung Associate 24066112
Chromosome Aberrations Associate 26337656