Gene Gene information from NCBI Gene database.
Entrez ID 51548
Gene name Sirtuin 6
Gene symbol SIRT6
Synonyms (NCBI Gene)
SIR2L6hSIRT6
Chromosome 19
Chromosome location 19p13.3
Summary This gene encodes a member of the sirtuin family of NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase
miRNA miRNA information provided by mirtarbase database.
55
miRTarBase ID miRNA Experiments Reference
MIRT439627 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439627 hsa-miR-218-5p HITS-CLIP 23212916
MIRT735225 hsa-miR-186-5p Western blottingqRT-PCR 32573339
MIRT1350318 hsa-miR-1224-5p CLIP-seq
MIRT1350319 hsa-miR-3180-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOXO3 Activation 20816089
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
167
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 24043303
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000781 Component Chromosome, telomeric region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606211 14934 ENSG00000077463
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N6T7
Protein name NAD-dependent protein deacylase sirtuin-6 (EC 2.3.1.-) (NAD-dependent protein deacetylase sirtuin-6) (EC 2.3.1.286) (Protein mono-ADP-ribosyltransferase sirtuin-6) (EC 2.4.2.-) (Regulatory protein SIR2 homolog 6) (hSIRT6) (SIR2-like protein 6)
Protein function NAD-dependent protein deacetylase, deacylase and mono-ADP-ribosyltransferase that plays an essential role in DNA damage repair, telomere maintenance, metabolic homeostasis, inflammation, tumorigenesis and aging (PubMed:18337721, PubMed:19135889,
PDB 3K35 , 3PKI , 3PKJ , 3ZG6 , 5MF6 , 5MFP , 5MFZ , 5MGN , 5X16 , 5Y2F , 6HOY , 6QCD , 6QCE , 6QCH , 6QCJ , 6XUY , 6XV1 , 6XV6 , 6XVG , 6ZU4 , 7CL0 , 7CL1 , 8AK5 , 8AK6 , 8AK7 , 8AK8 , 8AK9 , 8AKA , 8AKB , 8AKC , 8AKD , 8AKE , 8AKF , 8AKG , 8BL0 , 8BL1 , 8CNM , 8CNO , 8F86 , 8G57 , 8I2B , 8OF4 , 9G7H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02146 SIR2 52 87 Sir2 family Family
PF02146 SIR2 81 221 Sir2 family Family
Sequence
MSVNYAAGLSPYADKGKCGLPEIFDPPEELERKVWELARLVWQSSSVVFHTGAGISTASG
IPDFRGPHGVWTMEERGLAP
KFDTTFESARPTQTHMALVQLERVGLLRFLVSQNVDGLHV
RSGFPRDKLAELHGNMFVEECAKCKTQYVRDTVVGTMGLKATGRLCTVAKARGLRACRGE
LRDTILDWEDSLPDRDLALADEASRNADLSITLGTSLQIRP
SGNLPLATKRRGGRLVIVN
LQPTKHDRHADLRIHGYVDEVMTRLMKHLGLEIPAWDGPRVLERALPPLPRPPTPKLEPK
EESPTRINGSIPAGPKQEPCAQHNGSEPASPKRERPTSPAPHRPPKRVKAKAVPS
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
Thermogenesis
Central carbon metabolism in cancer
  Processing of DNA double-strand break ends
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Premature ovarian failure Likely pathogenic rs771714154 RCV001270238
★★★★☆
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
CARDIOMEGALY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATTY LIVER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 31128573
★☆☆☆☆
Found in Text Mining only
Aging Premature Associate 18337721, 35811457
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Inhibit 33910019
★☆☆☆☆
Found in Text Mining only
Aortic Valve Calcification of Inhibit 38365109
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Associate 27496874
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Associate 28296196, 33952798, 36733404
★☆☆☆☆
Found in Text Mining only
Bone Diseases Associate 31701920
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 25808624, 27746184, 32681437, 35840633
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 23800187, 26675349, 35840633, 37566546
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 26631040
★☆☆☆☆
Found in Text Mining only