Arhgef6
Gene Detail

Symbol Name ID

Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 MGI:1920591

Synonyms

1600028C08Rik, 1700038J06Rik, 4930592P22Rik, alpha-PIX

Feature Type

protein coding gene

Genetic Map

Chromosome X

31.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

ChrX:57231485-57338729 bp, - strand From VEGA annotation of GRCm38   107245 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3561  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Arhgef6

Human homologs

Human Homolog		ARHGEF6, Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
NCBI Gene ID		9459
neXtProt AC		NX_Q15052
Human Synonyms		alphaPIX, alpha-PIX, Cool-2, COOL2, MRX46, PIXA
Human Chr (Location)		Xq26.3; chrX:135747709-135863503 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ARHGEF6

Alleles and phenotypes

All alleles(7) : Targeted(6) Gene trapped(1)
 

Mice homozygous for a truncated allele exhibit decreased mature lymphocyte cell numbers, decreased B and T cell proliferation, and defective humeral response. Mice homozygous for a reporter allele exhibit abnormal dendrite morphology and synaptic plasticity and cognitive defects.

 

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	intracellular signal transduction, lamellipodium assembly, ...
Component	cell projection, cytoplasm, ...
Function	guanyl-nucleotide exchange factor activity, phospholipid binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (6)    Tissues (5)   
Theiler Stages: 21, 25, 28

Assay Type	Results
Northern blot	6

cDNA source data(52)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(55) Genomic(1) cDNA(53) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000017820 (Evidence)
Ensembl Gene Model	ENSMUSG00000031133 (Evidence)
Entrez Gene	73341 (Evidence)
UniGene	261443
DFCI	TC1580901, TC1599616, TC1617839
DoTS	DT.101367499, DT.111033308, DT.40141643, DT.485138, DT.87030192
NIA Mouse Gene Index	U039394
PDB	1V61
Consensus CDS Project	CCDS40984.2
International Mouse Knockout Project Status	Arhgef6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017820	VEGA Gene Model | MGI Sequence Detail	107245	C57BL/6J
transcript	OTTMUST00000043148	VEGA | MGI Sequence Detail	4569	Not Applicable
polypeptide	OTTMUSP00000019411	VEGA | MGI Sequence Detail	795	Not Applicable

All sequences(58) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(318 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001715	Calponin homology domain
InterPro	IPR000219	Dbl homology (DH) domain
InterPro	IPR001331	Guanine-nucleotide dissociation stimulator, CDC24, conserved site
InterPro	IPR001849	Pleckstrin homology domain
InterPro	IPR011993	Pleckstrin homology-like domain
InterPro	IPR003096	Smooth muscle protein/calponin
InterPro	IPR001452	Src homology-3 domain
InterPro	IPR011511	Variant SH3
Protein Ontology	PR:000004259	rho guanine nucleotide exchange factor 6

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:179026 Ramakers GJ, et al., Dysregulation of Rho GTPases in the alphaPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits. Hum Mol Genet. 2012 Jan 15;21(2):268-86
All references(37)

Other accession IDs

MGI:1923183, MGI:1923947