Version 5.4
Homo sapiens Gene: SETD2
Summary
InnateDB Gene IDBG-31184.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SETD2
Gene Name SET domain containing 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000181555
Encoded Proteins
IDBP-31186
SET domain containing 2
IDBP-293915
SET domain containing 2
IDBP-375039
SET domain containing 2
IDBP-375046
SET domain containing 2
IDBP-375048
SET domain containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:47016429-47163967
Strand Reverse strand
Band p21.31
Transcripts
ENST00000330022 ENSP00000332415
ENST00000409792 ENSP00000386759
ENST00000431180 ENSP00000388349
ENST00000445387 ENSP00000411901
ENST00000412450 ENSP00000416401
ENST00000479832
ENST00000492397
ENST00000484689
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0018024 histone-lysine N-methyltransferase activity
Biological Process
GO:0001525 angiogenesis
GO:0001570 vasculogenesis
GO:0001763 morphogenesis of a branching structure
GO:0001843 neural tube closure
GO:0006298 mismatch repair
GO:0006355 regulation of transcription, DNA-templated
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0010452 histone H3-K36 methylation
GO:0010468 regulation of gene expression
GO:0010793 regulation of mRNA export from nucleus
GO:0018023 peptidyl-lysine trimethylation
GO:0030900 forebrain development
GO:0034728 nucleosome organization
GO:0034968 histone lysine methylation
GO:0035441 cell migration involved in vasculogenesis
GO:0048332 mesoderm morphogenesis
GO:0048568 embryonic organ development
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048864 stem cell development
GO:0060039 pericardium development
GO:0060669 embryonic placenta morphogenesis
GO:0060977 coronary vasculature morphogenesis
GO:0097198 histone H3-K36 trimethylation
Cellular Component
GO:0005634 nucleus
GO:0005694 chromosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000044791
View Gene Order
ENSBTAG00000002948
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00310
Lysine degradation pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.517941 Hs.713848
RefSeq NM_014159 XM_005265094 XM_006713119
HUGO
OMIM
CCDS CCDS2749
HPRD 11043
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca