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FLASH GENE

Symbol

ITM2A

contributors: mct/npt - updated : 07-01-2009

HGNC name	integral membrane protein 2A
HGNC id	6173

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq21.1      Physical location : 78.615.882 - 78.623.049
Synonym name	BRICHOS domain containing 2A
	E25 protein
Synonym symbol(s)	E25A, BRICD2A

DNA

TYPE	functioning gene
STRUCTURE	7.20 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	cen - DXS1518 - DXS1447 - DXS6954 - DXS1420 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 6 - 1874 isoform 1 29.7 263 - Ross (2005)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage	CD34+ hematopoietic stem/progenitor cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	prokaryotic membrane lipoprotein lipid attachment site
	transmembrane region

HOMOLOGY

interspecies

homolog to C.elegans c23h4.5

Homologene

FAMILY

ITM2 family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane
text	type II membrane protein

basic FUNCTION	involved in osteo and chondrogenic differentiation
	involved in transcriptional regulation of cartilage or bone specific gene
	marker for early stages in endochondral ossification, and involved in the early stages of chondrogenesis (Van den Plas 2004)
	enhancing myogenic differentiation (Van den Plas 2004)
	BRICHOS domain-containing protein expressed preferentially in the T lineage among hematopoietic cells and is induced by MHC-mediated positive selection

CELLULAR PROCESS	cell life, differentiation
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

ITM2A to be a target gene of GATA3, a T cell-specific transcription factor

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS