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FLASH GENE

Symbol

MEF2B

contributors: mct/npt/pgu - updated : 15-03-2010

HGNC name	myocyte enhancer factor 2B
HGNC id	6995

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	component of a cluster of paralogous genes on chromosomes 19 and 15
STRUCTURE	24.72 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see TM6SF2

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001145785 9 - 1472 NP_001139257 - 368 - 1998 9430690

EXPRESSION

Type

widely

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 Lymphoid/Immune lymph node       highly   tonsils       highly Reproductive female system uterus cervix   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	MADS,(yeast Mcm1, plant homeotic Agamous and Deficiens, human Serum response factor) domain
	a MEF2 specific domain and forming with it a DNA binding and dimerization domains

HOMOLOGY

intraspecies

paralog to MEF2A

Homologene

FAMILY

MEF2 family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	associating with HDAC4, HDAC in regulation of skeletal myogenesis
	important for smooth muscle myosin heavy chain gene regulation
	mediating calcium-dependent transcription of the interleukin-2 gene in T lymphocytes
	implicated in neuronal activity-dependent cell survival, and may be regulate excitatory synapse number and postsynaptic differentiation of dendrites
	implicated in the regulation of adult bone mass
	involved in the inducible expression of NOX1/NADPH oxidase, a vascular superoxide-producing enzyme
	important component in GNA13-mediated angiogenesis

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to myocyte-specific enhancer

RNA

small molecule

protein	binding to TWIST to inhibit myogenesis
	binding to members of the MyoD family of transcriptional activator
	interacting with NFATC2
	binding SUV39H1 and CABIN1 (targeting its promoter in a calcium-dependent manner)
	cooperates with CREBBP and EP300 in acetylating histones

cell & other

REGULATION

repressed by

HDAC4 through multiple independent repressive domains

Other

negatively regulated by MITR in association with HDAC1

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   of endogenous GNA13 and MEF2 proteins in endothelial cells reduced cell proliferation and capillary tube formation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS