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.).
10
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 Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 27766571, 27864740
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31128573
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 30989475
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 31295533
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 28786706
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 30989475
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33910019 Inhibit
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30841754
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27180906
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30189861
★☆☆☆☆
Found in Text Mining only