ARHGEF6 - Rac/Cdc42 guanine nucleotide exchange factor 6 Gene

Homo sapiens

Also known as PIXA; COOL2; MRX46; Cool-2; alphaPIX; alpha-PIX

Gene ID: 9459 | Gene type: protein coding

About ARHGEF6

Cytogenetic location: Xq26.3 Genomic coordinates (GRCh38): X:136,665,550-136,780,932 (from NCBI)

This gene has 3 transcripts (splice variants), 206 orthologues, 22 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 22.0), lymph node (RPKM 16.8) and 24 other tissues.

Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]

ARHGEF6 Products(2)

mRNA	Protein	Name
NM_001306177.2	NP_001293106.1	rho guanine nucleotide exchange factor 6 isoform 2
NM_004840.3	NP_004831.1	rho guanine nucleotide exchange factor 6 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11864573	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARHGEF6 Protein Structure

SH3_9

RhoGEF

0
200
400
600
776 a.a.

Protein Preferred Names

Protein Names

rho guanine nucleotide exchange factor 6

PAK-interacting exchange factor, alpha

ARHGEF6 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ARHGEF6	Q15052	PAK2	Homo sapiens	Q13177	Phage Display	16374509
Intra	ARHGEF6	Q15052	PAK2	Homo sapiens	Q13177	Anti Tag CoIP	33961781
Intra	ARHGEF6	Q15052	TP53BP2	Homo sapiens	Q05BL1	Y2H Array	32296183
Intra	ARHGEF6	Q15052	TP53BP2	Homo sapiens	Q05BL1	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	GIT2	Homo sapiens	Q14161-11	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	GIT2	Homo sapiens	Q14161-11	Y2H Array	32296183
Intra	ARHGEF6	Q15052	GIT2	Homo sapiens	Q14161-11	MAPPIT	32296183
Intra	ARHGEF6	Q15052	POU6F2	Homo sapiens	P78424	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	POU6F2	Homo sapiens	P78424	Y2H Array	32296183
Intra	ARHGEF6	Q15052	PAK1	Homo sapiens	Q13153	Anti Tag CoIP	33961781
Intra	ARHGEF6	Q15052	PAK1	Homo sapiens	Q13153	Y2H	21900206
Intra	ARHGEF6	Q15052	SH2D1A	Homo sapiens	O60880-1	Anti Tag CoIP	16983070
Intra	ARHGEF6	Q15052	SH2D1A	Homo sapiens	O60880-1	Pull Down	16983070
Intra	ARHGEF6	Q15052	SH2D1A	Homo sapiens	O60880-1	Y2H	16983070
Intra	ARHGEF6	Q15052	RWDD2A	Homo sapiens	Q9UIY3	Y2H Array	32296183
Intra	ARHGEF6	Q15052	RWDD2A	Homo sapiens	Q9UIY3	Validated Y2H	32296183
Intra	ARHGEF6	Q15052	RWDD2A	Homo sapiens	Q9UIY3	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	TRIM54	Homo sapiens	Q9BYV2	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	TRIM54	Homo sapiens	Q9BYV2	Validated Y2H	32296183
Intra	ARHGEF6	Q15052	TRIM54	Homo sapiens	Q9BYV2	Y2H Array	32296183
Intra	ARHGEF6	Q15052	PNMA1	Homo sapiens	Q8ND90	Validated Y2H	32296183
Intra	ARHGEF6	Q15052	PNMA1	Homo sapiens	Q8ND90	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	PNMA1	Homo sapiens	Q8ND90	Y2H Array	32296183
Intra	ARHGEF6	Q15052	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	ARHGEF6	Q15052	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	ARHGEF6	Q15052	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
Intra	ARHGEF6	Q15052	GIT1	Homo sapiens	Q9Y2X7	Anti Tag CoIP	33961781
Intra	ARHGEF6	Q15052	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	ARHGEF6	Q15052	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	ARHGEF6	Q15052	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	IKZF3	Homo sapiens	Q9UKT9	Y2H Prey Pooling	32296183
Intra	ARHGEF6	Q15052	IKZF3	Homo sapiens	Q9UKT9	Validated Y2H	32296183
Intra	ARHGEF6	Q15052	IKZF3	Homo sapiens	Q9UKT9	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Intellectual Developmental Disorder, X-Linked 46

MRX46

XLID46

Non-Syndromic X-Linked Intellectual Disability 106

Mrx106

X-Linked Mental Retardation 106

Deafness, Autosomal Recessive 104

DFNB104	Autosomal Recessive Nonsyndromic Deafness 104
Autosomal Recessive Deafness 104	Deafness, Autosomal Recessive, 104
Deafness, Autosomal Recessive, Type 104

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia	Hydranencephaly With Abnormal Genitalia
Xlag	Xlisg
X-Linked Lissencephaly With Ambiguous Genitalia	LISX2
Lissencephaly, X-Linked 2	X-Linked Lissencephaly 2
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome	Xlag Syndrome
Lissencephaly, X-Linked, With Ambiguous Genitalia	Xlis2
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies	X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
Xlag Syndrome	Lissencephaly X-Linked With Ambiguous Genitalia
Lissencephaly, X-Linked, Type 2	Chromosome Xq26.3 Duplication Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00963	ARHGEF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ARHGEF6	MGD	MGI:1920591
Canis familiaris	ARHGEF6	VGNC	VGNC:38091
Rattus norvegicus	ARHGEF6	RGD	RGD:1359674
Felis catus	ARHGEF6	VGNC	VGNC:68155
Macaca mulatta	ARHGEF6	VGNC	VGNC:70015
Bos taurus	ARHGEF6	VGNC	VGNC:26120

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