Annotation Details for ARHGEF6

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Basic Information Top

Gene Symbol:	ARHGEF6 ( COOL2,Cool-2,KIAA0006,MRX46,PIXA,alpha-PIX,alphaPIX )
Gene Full Name:	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Band:	Xq26.3
Quick Links	Entrez ID:9459; OMIM: 300267; Uniprot ID:ARHG6_HUMAN; ENSEMBL ID: ENSG00000129675; HGNC ID: 685
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:3 results
Molecular Function:5 results
Biological Process:7 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005622	IC	-	intracellular	11017088
GO:0005829	TAS	-	cytosol	-
GO:0030027	ISS	-	lamellipodium	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0005085	TAS	-	guanyl-nucleotide exchange factor activity	-
GO:0005089	NAS	-	Rho guanyl-nucleotide exchange factor activity	11017088
GO:0005089	TAS	-	Rho guanyl-nucleotide exchange factor activity	-
GO:0005096	NAS	-	GTPase activator activity	9582122
GO:0005515	IPI	-	protein binding	11864573

GO ID	Evidence	Qualifier	GO_term	References
GO:0006915	NAS	-	apoptotic process	11564864
GO:0007254	NAS	-	JNK cascade	11564864
GO:0030032	ISS	-	lamellipodium assembly	-
GO:0035023	IEA	-	regulation of Rho protein signal transduction	-
GO:0043065	TAS	-	positive regulation of apoptotic process	-
GO:0043547	IEA	-	positive regulation of GTPase activity	-
GO:0051056	TAS	-	regulation of small GTPase mediated signal transduction	-

Protein-Protein Interaction

BioGRID:4 results
BIND:2 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
ARHGEF6	PKLR	114847	12006652	Affinity Capture-Western
ARHGEF6	PKLR	111330	12006652	Affinity Capture-Western
GIT1	ARHGEF6	114847	10428811	Affinity Capture-Western
GIT1	ARHGEF6	118789	10428811	Affinity Capture-Western

Gene Symbol	Interactant	Interaction ID	References	Description
ARHGEF6	CDC42	197097	15649357	ARHGEF6 (Cool-2) interacts with Cdc42.
ARHGEF6	RAC1	197098	15649357	ARHGEF6 (Cool-2) interacts with Rac1.

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1920591
Data Attributes: MGI curated and HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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