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FLASH GENE

Symbol

ARHGAP5

contributors: mct/npt/pgu - updated : 25-10-2013

HGNC name	Rho GTPase activating protein 5
HGNC id	675

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL14QP chromosome 14q proximal deletion
Location	14q12      Physical location : 32.546.494 - 32.628.932
Synonym name	growth factor independent 2
	p100 RasGAP-associated p105 protein
	p105 RhoGAP
	p190-B RhoGAP
Synonym symbol(s)	P190B, RHOGAP5, GFI2

DNA

TYPE	functioning gene
STRUCTURE	82.44 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D14S1071 - ARHGAP5 - D14S1060 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001030055 7 - 9604 NP_001025226 172.3 1502 - 2009 1899664 NM_001173 7 - 9601 NP_001164 172.2 1501 - 2009 1899664

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 Digestive liver         Nervous brain       highly Mus musculus Adult   brain       highly Mus musculus Fetal Reproductive male system testis       Respiratory lung         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	several motifs of a GTPase domain in its N terminal region
	a C terminus containing a Rho/GAP domain

HOMOLOGY

Homologene

FAMILY

Rho family GTPase-activating protein

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	with RASGRF1, control pivotal aspects of neural development, including neuronal differentiation and process outgrowth
	is required for normal brain development
	play an essential role in invasion of the terminal end buds (TEBs) into the surrounding fat pad during mammary gland ductal morphogenesis
	RASGRF1 and ARHGAP5 function to modulate Rho signaling in response to integrin engagement
	important regulators of RhoGTPase activity in mammalian cells
	role in the expression of the two collaborative proteases MMP14 and MMP2, thereby affecting matrix remodelling and angiogenesis
	probable target for the amplification at 14q12, and promotes cells spreading and migration by negatively regulating RhoA activity in hepatocellular carcinoma cells
	critical transducer element of hematopoietic stem cell self-renewal activity and long-term engraftment
	may promote tumorigenesis through a RAC1/ROS dependent mechanism
	RASGRF1 and ARHGAP5 are essential genes that have distinct, but overlapping roles in the developing nervous system
	is required for mammary gland morphogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	with RASGRF1, regulates actin stress fiber dynamics via hydrolysis of Rho-GTP
	critical role for CTNND1 (AAs 820-843) domain in the CTNND1/ARHGAP5 signaling complex assembly, membrane targeting, and stimulation of ARHGAP5 activity toward inhibition of the Rho pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL14QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   disrupts ductal morphogenesis and induces hyperplastic lesions in the developing mammary gland

Susceptibility

Variant & Polymorphism

Candidate gene	cortical blindness
Marker
Therapy target

ANIMAL & CELL MODELS

mice lacking Arhgap5 display several major defects including deficits in the formation of major forebrain commissures, including the corpus callosum and anterior commissure