2. Gene
  3. ARHGEF6 - Rac/Cdc42 guanine nucleotide exchange factor 6 Gene

ARHGEF6 - Rac/Cdc42 guanine nucleotide exchange factor 6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

ARHGEF6 Protein Structure

CH

CH: Calponin homology (CH) domain (4 - 106)

SH3_9

SH3_9: Variant SH3 domain (167 - 214)

RhoGEF

RhoGEF: RhoGEF domain (245 - 419)

PH

PH: PH domain (458 - 547)

  • 0
  • 200
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  • 600
  • 776 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 6

PAK-interacting exchange factor, alpha

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 / 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