SETD2

GENE INFORMATION

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Gene name

SETD2 (HGNC Symbol)

Synonyms

FLJ23184, HIF-1, HYPB, KIAA1732, KMT3A

Description

SET domain containing 2 (HGNC Symbol)

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]

Chromosome

3

Cytoband

p21.31

Chromosome location (bp)

47016429 - 47163967

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000181555 (version 78.38)

Entrez gene

29072

UniProt

Q9BYW2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BYW2

Antibodypedia

SETD2 antibodies
 

PROTEIN VIEW

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SETD2-001
 
SETD2-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SETD2-001 ENSP00000386759
ENST00000409792
Q9BYW2
Show all »
Show » Show » 2564 287.6 No 0
SETD2-006 ENSP00000416401
ENST00000412450
C9JG86
Show all »
Show » 1340 149.3 No 0