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FLASH GENE

Symbol

ARHGEF9

contributors: mct - updated : 09-11-2016

HGNC name	Cdc42 guanine nucleotide exchange factor (GEF) 9
HGNC id	14561

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRX83 mental retardation, X-linked 83 STHEEX Startle disease, hyperekplexia, with epilepsia
Location	Xq11.1      Physical location : 62.854.847 - 63.005.426
Synonym name	hPEM-2 collybistin
	collybistin
	Rho guanine nucleotide exchange factor 9
	Rac/Cdc42 guanine nucleotide exchange factor 9
	PEM-2 homolog
Synonym symbol(s)	KIAA0424, PEM2, HPEM-2, COLLYBISTIN

DNA

TYPE	functioning gene
STRUCTURE	151.06 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_015185 10 - 5450 NP_056000 61 516 - 2011 21540179 NM_001173479 9 - 4853 NP_001166950 54.8 463 - 2011 21540179 CB2 differ in the C terminus and occur with and without the Src homology 3 (SH3) domain NM_001173480 9 - 5259 NP_001166951 49.3 414 - 2011 21540179 CB3 differ in the C terminus and occur with and without the Src homology 3 (SH3) domain NM_001330495 - - 5111 NP_001317424 - 495 - 2011 21540179

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 Nervous brain       highly Reproductive male system testis     highly

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

Text	in the developing brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	SH3 domain
	RHO-GEF domain
	a pleckstrin homology domain, with a part (residues 318-343) sufficient for binding to SURF1

HOMOLOGY

Homologene

FAMILY

Rho-like GTPases family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	modulating the activity of RHO-like proteins and connecting extracellular signals to cytoskeletal activities
	having a key role in membrane trafficking of gephyrin
	and selected GABAA receptor subtypes involved in epilepsy,
	anxiety, aggression, insomnia, and learning and memory
	key regulatorof the actin cytoskeleton and are involved in cell signaling
	pivotal role in formation of postsynaptic glycine and gamma-aminobutyric acid receptor clusters
	brain-specific guanine nucleotide exchange factor (GEF) that is crucial for the postsynaptic accumulation of gephyrin and (GABA(A) Rs) at a specific subset of inhibitory synapse
	guanine-nucleotide-exchange factor (GEF) selectively activating CDC42

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

collybistin-gephyrin (ARHGEF9/GPHN)complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit

INTERACTION

DNA

RNA

small molecule

protein	GPHN (during inhibitory postsynaptic membrane formation)
	target of SMURF1, that induces its proteasomal degradation
	formation of gephyrin scaffolds at inhibitory synapses requires an intact ARHGEF9 PH-domain but is CDC42-independent
	interacting with CDC42 (ARHGEF9 and CDC42 are major regulators of GABAergic postsynaptic densities) (PMID;
	GPHN-binding protein ARHGEF9 is involved in regulating the phosphorylation of GPHN
	ARHGEF9 and CDK5 are involved in regulating the phosphorylation of GPHN at postsynaptic membrane specializations
	small Rho-like GTPase RHOQ stimulates ARHGEF9-dependent GPHN clustering by binding in its active, GTP-bound state to the pleckstrin homology domain of ARHGEF9
	neuron-specific Rho-GEF interacts with EIF3A, and its binding partner GPHN associates with MTOR

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

STHEEX , MRX83

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   translocation     disrupted by a balanced translocation, in a female patient with epilepsy, anxiety, agression and mental retardation (Kalscheuer,09)

Susceptibility

to coronary artery spasm

Variant & Polymorphism other	Ala370Ser polymorphism in the ARHGAP9 gene is associated with coronary artery spasm

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS