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Arhgef6 Gene Detail
Summary
  • Symbol
    Arhgef6
  • Name
    Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
  • Synonyms
    1600028C08Rik, 1700038J06Rik, 4930592P22Rik, alpha-PIX
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920591
    NCBI Gene: 73341
  • Gene Overview
    MyGene.info: ARHGEF6
Location & Maps
more
  • Sequence Map
    ChrX:57231485-57338729 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      107245 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 31.26 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ARHGEF6, Rac/Cdc42 guanine nucleotide exchange factor 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ARHGEF6, Rac/Cdc42 guanine nucleotide exchange factor 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    alphaPIX, alpha-PIX, Cool-2, COOL2, MRX46, PIXA
  • Links
    NCBI Gene ID: 9459
    neXtProt AC: NX_Q15052

  • Chr Location
    Xq26.3; chrX:136665547-136781656 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ARHGEF6 associations

Human Disease Mouse Models
       Mental Retardation, X-Linked 46; MRX46   OMIM: 300436
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Gene trapped
    1
  • Targeted
    7
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017820 VEGA Gene Model | MGI Sequence Detail 107245 C57BL/6J ±  kb
transcript OTTMUST00000043148 VEGA | MGI Sequence Detail 4569 Not Applicable  
polypeptide OTTMUSP00000019411 VEGA | MGI Sequence Detail 795 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    338 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000004259 rho guanine nucleotide exchange factor 6
  • PDB
  • InterPro Domains
    IPR001715 Calponin homology domain
    IPR000219 Dbl homology (DH) domain
    IPR001331 Guanine-nucleotide dissociation stimulator, CDC24, conserved site
    IPR011993 PH domain-like
    IPR001849 Pleckstrin homology domain
    IPR032409 Rho guanine nucleotide exchange factor, coiled-coil domain
    IPR001452 SH3 domain
    IPR003096 Smooth muscle protein/calponin
Molecular
Reagents
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  • All nucleic 55
    Genomic 1
    cDNA 53
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:1923183, MGI:1923947
References
more
  • Summaries
    All 37
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 8
  • 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:224019 Hemmesi K, et al., miR-135a Inhibits Cancer Stem Cell-Driven Medulloblastoma Development by Directly Repressing Arhgef6 Expression. Stem Cells. 2015 May;33(5):1377-89

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory