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FLASH GENE

Symbol

SETD2

contributors: SGE/npt - updated : 06-04-2010

HGNC name	SET domain containing 2
HGNC id	18420

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3p21.31      Physical location : 47.057.899 - 47.205.467
Synonym name	huntington interacting protein B
	histone-lysine N-methyltransferase SETD2
	huntingtin yeast partner B
	huntingtin-interacting protein 1
	huntingtin-interacting protein B
	lysine N-methyltransferase 3A
Synonym symbol(s)	HSPC069, KIAA1732, p231HBP, HYPB, FLJ45883, FLJ16420, FLJ22472, FLJ23184, HIF-1, KMT3A, SET2, HBP231, FLJ46217
EC.number	2.1.1.43

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	147.57 kb     21 Exon(s)

regulatory sequence	Binding site
text structure	DNA binding site in the proximal E1A promoter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014159 21 - 8452 NP_054878 - 2564 - Faber (1998)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous nerve       highly Reproductive female system uterus     highly   male system prostate     highly Respiratory lung       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a single mildly related WW domain
	a triplicate AWS-SET-PostSET domains mediating a histone H3 lysine 36 specific HMTase activity
	a low charged region rich in glutamine and proline characterized as a novel transcriptional activation domain

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine Setd2 (87.4pc)
	homolog to rattus Setd2 (80.8pc)

Homologene

FAMILY	histone-lysine methyltransferase family
	SET2 subfamily

CATEGORY

enzyme , regulatory , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	colocated in nuclear speckles with HD mutant protein

basic FUNCTION	premRNA splicing
	coordinating histone methylation and transcriptional regulation
	having a potential roles in hematopoiesis and pathogenesis of Huntington disease
	histone methyltransferase specific for lys-36 of histone H3
	probably plays a role in chromatin structure modulation during elongation via its interaction with hyperphosphorylated POL2RA
	may act as a transcription activator that binds to promoters
	can interact with TP53 and selectively regulate its transcription factor activity (Xie 2008)
	may be a tumor suppressor for breast cancer (Al Sarakbi 2009)

CELLULAR PROCESS	nucleotide, transcription, regulation
	nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	associated with hyperphosphorylated RNA pol II
	IWS1 connects two distinct C-terminal domain-binding proteins, SUPT6H and SETD2, in a megacomplex that affects mRNA export as well as the histone modification state of active genes (Yoh 2008)

INTERACTION

DNA	binding DNA at promoters
	binding to the promoter of adenovirus 12E1A gene in case of infection, possibly leading to regulate its expression

RNA

small molecule

protein

huntingtin (HD) N terminal proline rich region, enhanced by lengthening the adjacent glutamine tract

cell & other

REGULATION

activated by

low charge region

Other

may be automethylated

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS