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FLASH GENE

Symbol

ARHGAP4

contributors: mct - updated : 17-02-2010

HGNC name	Rho GTPase activating protein 4
HGNC id	674

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq28      Physical location : 153.172.829 - 153.191.714
Synonym name	DNA segment,single copy,probes p2-55,C1,12B2
	Rho-GAP hematopoietic protein C1
Synonym symbol(s)	DXS707, KIAA0131, RGC1, RHOGAP4, P115, RHG4, C1, SrGAP4

DNA

TYPE	functioning gene
STRUCTURE	18.87 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001666 22 - 3285 NP_001657 - 946 - - NM_001164741 - - 3405 NP_001158213 - 986 - -

EXPRESSION

Type

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 blood / hematopoietic spleen           thymus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic plasma     highly Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage	hematopoietic cells
cell lines
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta, lung

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal Fes/CIP homology (FCH), important for spatially localizing ARHGAP4 to axon growth cones
	a central RHO-GAP (GAP domain and C-terminus are necessary for ARHGAP4-mediated inhibition of cell and axon motility)
	a FBH domain
	a C terminal SH3 domains

HOMOLOGY

interspecies

homolog to C.elegans F12F6.5

Homologene

FAMILY	FNBP2 protein family
	RhoGAP family

CATEGORY

adaptor , regulatory , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	inhibitory effect on stress fiber organization, may be down regulating Rho-like GTPase in hematopoietic cells
	can act as a potent inhibitor of cell and axon motility when it is localized to the leading edge of motile cells and axons
	may play some role in lymphocyte differentiation but partial loss of ARHGAP4 does not result in clinical immunodeficiency

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	cytoskeletal regulation

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     contiguous gene syndrome of severe combined immunodeficiency and nephrogenic diabetes insipidus in Xq28 deletion encompassing AVPR2 and ARD1A

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed blood hemoglobin   may represent potential tools for the identification of new targets for sickle cell anaemia therapy

ANIMAL & CELL MODELS