Human Gene SIRT2 (ENST00000249396.12) from GENCODE V44
  Description: Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA. (from RefSeq NM_012237)
RefSeq Summary (NM_012237): This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010].
Gencode Transcript: ENST00000249396.12
Gencode Gene: ENSG00000068903.21
Transcript (Including UTRs)
   Position: hg38 chr19:38,878,560-38,899,618 Size: 21,059 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg38 chr19:38,879,155-38,899,521 Size: 20,367 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:38,878,560-38,899,618)mRNA (may differ from genome)Protein (389 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SIR2_HUMAN
DESCRIPTION: RecName: Full=NAD-dependent protein deacetylase sirtuin-2; EC=3.5.1.-; AltName: Full=Regulatory protein SIR2 homolog 2; AltName: Full=SIR2-like protein 2;
FUNCTION: NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and non-histone proteins. Deacetylates 'Lys-40' of alpha-tubulin. Involved in the control of mitotic exit in the cell cycle, probably via its role in the regulation of cytoskeleton. Deacetylates PCK1, opposing proteasomal degradation. Deacetylates 'Lys-310' of RELA.
CATALYTIC ACTIVITY: NAD(+) + an acetylprotein = nicotinamide + O- acetyl-ADP-ribose + a protein.
COFACTOR: Binds 1 zinc ion per subunit.
ENZYME REGULATION: Inhibited by Sirtinol, A3 and M15 small molecules. Inhibited by nicotinamide.
SUBUNIT: Interacts with HDAC6, suggesting that these proteins belong to a large complex that deacetylate the cytoskeleton.
INTERACTION: Q12834:CDC20; NbExp=2; IntAct=EBI-5240785, EBI-367462; Q9UM11:FZR1; NbExp=2; IntAct=EBI-5240785, EBI-724997; Q92831:KAT2B; NbExp=4; IntAct=EBI-477232, EBI-477430;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules.
TISSUE SPECIFICITY: Widely expressed. Highly expressed in heart, brain and skeletal muscle, while it is weakly expressed in placenta and lung. Down-regulated in many gliomas suggesting that it may act as a tumor suppressor gene in human gliomas possibly through the regulation of microtubule network.
DEVELOPMENTAL STAGE: Peaks during mitosis. After mitosis, it is probably degraded by the 26S proteasome.
PTM: Phosphorylated at the G2/M transition of the cell cycle.
MISCELLANEOUS: Has some ability to deacetylate histones in vitro, but seeing its subcellular location, this is unlikely in vivo.
SIMILARITY: Belongs to the sirtuin family. Class I subfamily.
SIMILARITY: Contains 1 deacetylase sirtuin-type domain.
SEQUENCE CAUTION: Sequence=AAD45971.1; Type=Erroneous initiation; Sequence=AAF67015.1; Type=Frameshift; Positions=Several;

-  Primer design for this transcript
 

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Click here to open Exonprimer with this transcript

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-  MalaCards Disease Associations
  MalaCards Gene Search: SIRT2
Diseases sorted by gene-association score: wallerian degeneration (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 158.57 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 1652.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.7097-0.327 Picture PostScript Text
3' UTR -226.60595-0.381 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017328 - NAD-dep_deAcase_SIR2_class_I
IPR003000 - Sirtuin
IPR026591 - Sirtuin_cat_small_dom
IPR026590 - Ssirtuin_cat_dom

Pfam Domains:
PF02146 - Sir2 family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1J8F - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8IXJ6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0004407 histone deacetylase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0017136 NAD-dependent histone deacetylase activity
GO:0033558 protein deacetylase activity
GO:0034979 NAD-dependent protein deacetylase activity
GO:0035035 histone acetyltransferase binding
GO:0042826 histone deacetylase binding
GO:0042903 tubulin deacetylase activity
GO:0043130 ubiquitin binding
GO:0046872 metal ion binding
GO:0046970 NAD-dependent histone deacetylase activity (H4-K16 specific)
GO:0070403 NAD+ binding
GO:0003950 NAD+ ADP-ribosyltransferase activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000183 chromatin silencing at rDNA
GO:0002376 immune system process
GO:0006342 chromatin silencing
GO:0006348 chromatin silencing at telomere
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006471 protein ADP-ribosylation
GO:0006476 protein deacetylation
GO:0006914 autophagy
GO:0007049 cell cycle
GO:0007096 regulation of exit from mitosis
GO:0007399 nervous system development
GO:0008285 negative regulation of cell proliferation
GO:0010507 negative regulation of autophagy
GO:0010801 negative regulation of peptidyl-threonine phosphorylation
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0016458 gene silencing
GO:0016575 histone deacetylation
GO:0021762 substantia nigra development
GO:0022011 myelination in peripheral nervous system
GO:0030154 cell differentiation
GO:0031641 regulation of myelination
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0034599 cellular response to oxidative stress
GO:0034983 peptidyl-lysine deacetylation
GO:0035729 cellular response to hepatocyte growth factor stimulus
GO:0042177 negative regulation of protein catabolic process
GO:0042325 regulation of phosphorylation
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043388 positive regulation of DNA binding
GO:0043491 protein kinase B signaling
GO:0044242 cellular lipid catabolic process
GO:0045087 innate immune response
GO:0045598 regulation of fat cell differentiation
GO:0045599 negative regulation of fat cell differentiation
GO:0045836 positive regulation of meiotic nuclear division
GO:0045843 negative regulation of striated muscle tissue development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048012 hepatocyte growth factor receptor signaling pathway
GO:0051301 cell division
GO:0051321 meiotic cell cycle
GO:0051726 regulation of cell cycle
GO:0051775 response to redox state
GO:0051781 positive regulation of cell division
GO:0051987 positive regulation of attachment of spindle microtubules to kinetochore
GO:0061428 negative regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0061433 cellular response to caloric restriction
GO:0070446 negative regulation of oligodendrocyte progenitor proliferation
GO:0070932 histone H3 deacetylation
GO:0070933 histone H4 deacetylation
GO:0071219 cellular response to molecule of bacterial origin
GO:0071456 cellular response to hypoxia
GO:0071872 cellular response to epinephrine stimulus
GO:0090042 tubulin deacetylation
GO:1900119 positive regulation of execution phase of apoptosis
GO:1900195 positive regulation of oocyte maturation
GO:1900226 negative regulation of NLRP3 inflammasome complex assembly
GO:1900425 negative regulation of defense response to bacterium
GO:2000378 negative regulation of reactive oxygen species metabolic process
GO:2000777 positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005634 nucleus
GO:0005677 chromatin silencing complex
GO:0005694 chromosome
GO:0005720 nuclear heterochromatin
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030426 growth cone
GO:0030496 midbody
GO:0033010 paranodal junction
GO:0033270 paranode region of axon
GO:0042995 cell projection
GO:0043204 perikaryon
GO:0043209 myelin sheath
GO:0043219 lateral loop
GO:0043220 Schmidt-Lanterman incisure
GO:0044224 juxtaparanode region of axon
GO:0048471 perinuclear region of cytoplasm
GO:0072686 mitotic spindle
GO:0072687 meiotic spindle
GO:0097386 glial cell projection


-  Descriptions from all associated GenBank mRNAs
  LF384236 - JP 2014500723-A/191739: Polycomb-Associated Non-Coding RNAs.
MA619813 - JP 2018138019-A/191739: Polycomb-Associated Non-Coding RNAs.
AF131800 - Homo sapiens clone 24955 mRNA sequence, partial cds.
AF160214 - Homo sapiens silent information regulator 2 homolog mRNA, complete cds.
AF095714 - Homo sapiens silencing information regulator 2-like protein (SIR2L) mRNA, complete cds.
AK025876 - Homo sapiens cDNA: FLJ22223 fis, clone HRC01685, highly similar to AF095714 Homo sapiens silencing information regulator 2-like protein (SIR2L) mRNA.
BC003012 - Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae), mRNA (cDNA clone MGC:4039 IMAGE:2820929), complete cds.
BC003547 - Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae), mRNA (cDNA clone MGC:1105 IMAGE:3536728), complete cds.
AK225824 - Homo sapiens mRNA for Splice isoform 4 of Q8IXJ6 variant, clone: FCC128D01.
AK131390 - Homo sapiens cDNA FLJ16468 fis, clone BRHIP3008314.
AY030277 - Homo sapiens SIRT2 (SIRT2) mRNA, complete cds.
AK054642 - Homo sapiens cDNA FLJ30080 fis, clone BGGI12000684, highly similar to Homo sapiens sirtuin type 2 (SIRT2) mRNA.
AF083107 - Homo sapiens sirtuin type 2 (SIRT2) mRNA, complete cds.
AJ505014 - Homo sapiens mRNA for sirtuin type 2 (SIRT2 gene), transcript variant 3.
AB009274 - Homo sapiens SIR2 mRNA for silent information regulator 2, complete cds.
JD498483 - Sequence 479507 from Patent EP1572962.
JD481728 - Sequence 462752 from Patent EP1572962.
JD217065 - Sequence 198089 from Patent EP1572962.
JD382025 - Sequence 363049 from Patent EP1572962.
LF367259 - JP 2014500723-A/174762: Polycomb-Associated Non-Coding RNAs.
MA602836 - JP 2018138019-A/174762: Polycomb-Associated Non-Coding RNAs.
JD318838 - Sequence 299862 from Patent EP1572962.
JD161896 - Sequence 142920 from Patent EP1572962.
JD386732 - Sequence 367756 from Patent EP1572962.
JD123495 - Sequence 104519 from Patent EP1572962.
JD190651 - Sequence 171675 from Patent EP1572962.
JD335646 - Sequence 316670 from Patent EP1572962.
JD104422 - Sequence 85446 from Patent EP1572962.
JD319191 - Sequence 300215 from Patent EP1572962.
JD410435 - Sequence 391459 from Patent EP1572962.
JD387161 - Sequence 368185 from Patent EP1572962.
JD528305 - Sequence 509329 from Patent EP1572962.
JD159262 - Sequence 140286 from Patent EP1572962.
KF032391 - Homo sapiens sirtuin-2 isoform 5 (SIRT2) mRNA, complete cds, alternatively spliced.
AK290716 - Homo sapiens cDNA FLJ75162 complete cds, highly similar to Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae) (SIRT2), transcript variant 2, mRNA.
JD041556 - Sequence 22580 from Patent EP1572962.
JD094756 - Sequence 75780 from Patent EP1572962.
AK314492 - Homo sapiens cDNA, FLJ95305, Homo sapiens sirtuin (silent mating type information regulation 2homolog) 2 (S. cerevisiae) (SIRT2), transcript variant 1, mRNA.
KJ893311 - Synthetic construct Homo sapiens clone ccsbBroadEn_02705 SIRT2 gene, encodes complete protein.
EU447008 - Synthetic construct Homo sapiens clone IMAGE:100069812; IMAGE:100012217; FLH258603.01L sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae) (SIRT2) gene, encodes complete protein.
LF367258 - JP 2014500723-A/174761: Polycomb-Associated Non-Coding RNAs.
MA602835 - JP 2018138019-A/174761: Polycomb-Associated Non-Coding RNAs.
AB489175 - Synthetic construct DNA, clone: pF1KB7265, Homo sapiens SIRT2 gene for sirtuin (silent mating type information regulation 2 homolog) 2, without stop codon, in Flexi system.
CU678486 - Synthetic construct Homo sapiens gateway clone IMAGE:100018173 5' read SIRT2 mRNA.
LF367257 - JP 2014500723-A/174760: Polycomb-Associated Non-Coding RNAs.
MA602834 - JP 2018138019-A/174760: Polycomb-Associated Non-Coding RNAs.
LF367256 - JP 2014500723-A/174759: Polycomb-Associated Non-Coding RNAs.
MA602833 - JP 2018138019-A/174759: Polycomb-Associated Non-Coding RNAs.
AK092940 - Homo sapiens cDNA FLJ35621 fis, clone SPLEN2010847.
LF367255 - JP 2014500723-A/174758: Polycomb-Associated Non-Coding RNAs.
MA602832 - JP 2018138019-A/174758: Polycomb-Associated Non-Coding RNAs.
LF367254 - JP 2014500723-A/174757: Polycomb-Associated Non-Coding RNAs.
MA602831 - JP 2018138019-A/174757: Polycomb-Associated Non-Coding RNAs.
JD025087 - Sequence 6111 from Patent EP1572962.
JD033382 - Sequence 14406 from Patent EP1572962.
LF367253 - JP 2014500723-A/174756: Polycomb-Associated Non-Coding RNAs.
MA602830 - JP 2018138019-A/174756: Polycomb-Associated Non-Coding RNAs.
AK094810 - Homo sapiens cDNA FLJ37491 fis, clone BRAWH2015247.
LF207578 - JP 2014500723-A/15081: Polycomb-Associated Non-Coding RNAs.
MA443155 - JP 2018138019-A/15081: Polycomb-Associated Non-Coding RNAs.
JD103891 - Sequence 84915 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3V1, B2RB45, ENST00000249396.1, ENST00000249396.10, ENST00000249396.11, ENST00000249396.2, ENST00000249396.3, ENST00000249396.4, ENST00000249396.5, ENST00000249396.6, ENST00000249396.7, ENST00000249396.8, ENST00000249396.9, NM_012237, O95889, Q8IXJ6, Q924Y7, Q9P0G8, Q9UNT0, Q9Y6E9, SIR2L, SIR2L2, SIR2_HUMAN, uc002ojt.1, uc002ojt.2, uc002ojt.3, uc002ojt.4
UCSC ID: ENST00000249396.12
RefSeq Accession: NM_012237
Protein: Q8IXJ6 (aka SIR2_HUMAN)
CCDS: CCDS12523.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.