XRCC6 (X-ray repair cross complementing 6)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2547
Gene name Gene Name - the full gene name approved by the HGNC.
X-ray repair cross complementing 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XRCC6
Synonyms (NCBI Gene) Gene synonyms aliases
CTC75, CTCBF, G22P1, KU70, ML8, TLAA
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
152690 4055 ENSG00000196419
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Non-homologous end-joining   2-LTR circle formation
Cytosolic sensors of pathogen-associated DNA
IRF3-mediated induction of type I IFN
Nonhomologous End-Joining (NHEJ)
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
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
Asthma Asthma N/A N/A GWAS
Autism Spectrum Disorder autism spectrum disorder N/A N/A GenCC
Breast Cancer Breast cancer N/A N/A GWAS
Show/Hide Text Mining Associations (62)
Associations from Text Mining Disease 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