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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog, GenCC
GWAS catalog, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 23752193
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11731412, 23752193
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32560738 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 36835215 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31827253
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 31827253
★☆☆☆☆
Found in Text Mining only
Basal Cell Nevus Syndrome Basal Cell Neoplasm BEFREE 12925225
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 15551138, 18422577, 24324074, 24382701
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12750264, 17617666, 19219618, 21556760, 22833453, 23098447, 23745766, 24615008, 27914769, 28471392
★★☆☆☆
Found in Text Mining + Unknown/Other Associations