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Arhgef9 Gene Detail
Summary
  • Symbol
    Arhgef9
  • Name
    CDC42 guanine nucleotide exchange factor 9
  • Synonyms
    9630036L12Rik, collybistin, mKIAA0424
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442233
    NCBI Gene: 236915
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:94092541-94240462 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 41.85 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2229 from dbSNP Build 142
  • Strain Annotations
    27
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442233
 protein coding gene ChrX:94092536-94240801 (-)
129S1/SvImJ ENSMUSG00200037841
 protein coding gene ChrX:75837292-75890729 (-)
129S1/SvImJ ENSMUSGG00200054902
 protein coding gene ChrX:75776682-75837306 (-)
A/J ENSMUSG00195030791
 protein coding gene ChrX:79639686-79693127 (-)
A/J ENSMUSGG00195055444
 protein coding gene ChrX:79571488-79639700 (-)
AKR/J ENSMUSGG00220054762
 protein coding gene ChrX:74303996-74364609 (-)
AKR/J ENSMUSG00220026340
 protein coding gene ChrX:74364595-74418031 (-)
BALB/cJ ENSMUSGG00180055316
 protein coding gene ChrX:76242825-76303436 (-)
BALB/cJ ENSMUSG00180021695
 protein coding gene ChrX:76303422-76356865 (-)
C3H/HeJ ENSMUSGG00175054673
 protein coding gene ChrX:79938163-79998786 (-)
C3H/HeJ ENSMUSG00175018316
 protein coding gene ChrX:79998772-80052214 (-)
C57BL/6NJ ENSMUSG00215016979
 protein coding gene ChrX:76520747-76574189 (-)
C57BL/6NJ ENSMUSGG00215055378
 protein coding gene ChrX:76460140-76520761 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033242
 protein coding gene ChrX:89707082-89859571 (-)
CAST/EiJ no annotation
CBA/J ENSMUSGG00210054778
 protein coding gene ChrX:76677802-76738412 (-)
CBA/J ENSMUSG00210033578
 protein coding gene ChrX:76738398-76791846 (-)
DBA/2J ENSMUSG00185030620
 protein coding gene ChrX:89217156-89270595 (-)
DBA/2J ENSMUSGG00185057751
 protein coding gene ChrX:89156549-89217170 (-)
FVB/NJ ENSMUSG00205019684
 protein coding gene ChrX:75987967-76041401 (-)
FVB/NJ ENSMUSGG00205054333
 protein coding gene ChrX:75927372-75987981 (-)
JF1/MsJ no annotation
LP/J ENSMUSGG00230055387
 protein coding gene ChrX:95851220-95911840 (-)
LP/J ENSMUSG00230012649
 protein coding gene ChrX:95911826-95965260 (-)
NOD/ShiLtJ ENSMUSG00190017425
 protein coding gene ChrX:75885287-75938731 (-)
NOD/ShiLtJ ENSMUSGG00190054833
 protein coding gene ChrX:75824678-75885301 (-)
NZO/HlLtJ ENSMUSGG00225055243
 protein coding gene ChrX:100981522-101042128 (-)
NZO/HlLtJ ENSMUSG00225045420
 protein coding gene ChrX:101042114-101095550 (-)
PWK/PhJ no annotation
SPRET/EiJ ENSMSPG00010030908
 protein coding gene ChrX:79197252-79353399 (-)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    ARHGEF9, Cdc42 guanine nucleotide exchange factor 9
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ARHGEF9, Cdc42 guanine nucleotide exchange factor 9
  • Synonyms
    COLLYBISTIN, DEE8, EIEE8, HPEM-2, PEM-2, PEM2
  • Links
    NCBI Gene ID: 23229
    UniProt: O43307

  • Chr Location
    Xq11.1; chrX:63634967-63809274 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Arhgef9 mouse models; 1 with human ARHGEF9 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 3 alleles in 4 genetic backgrounds
    9 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.
Male mice hemizygous for a null allele exhibit impaired spatial learning, increased anxiety-associated behaviors, and altered central nervous system synaptic transmission.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    665
  • Tissues
    32
  • cDNA Data
    10
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025656 Ensembl Gene Model | MGI Sequence Detail 147922 C57BL/6J ±  kb
    transcript ENSMUST00000113884 Ensembl | MGI Sequence Detail 3784 Not Applicable  
    polypeptide ENSMUSP00000109516 Ensembl | MGI Sequence Detail 560 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 13
      Primer pair 3
      Other 1

      Microarray probesets 7
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 11
      Phenotypes 9
    • Earliest
      J:88599 Kneussel M, et al., Distribution of transcripts for the brain-specific GDP/GTP exchange factor collybistin in the developing mouse brain. Eur J Neurosci. 2001 Feb;13(3):487-92
    • Latest
      J:364541 Wang W, et al., Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy. Proc Natl Acad Sci U S A. 2024 Oct 15;121(42):e2400709121
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory