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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
    gene 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
    18
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 MGP_129S1SvImJ_G0035916
 protein coding gene ChrX:91393743-91560234 (-)
A/J MGP_AJ_G0035902
 protein coding gene ChrX:91600932-91757625 (-)
AKR/J MGP_AKRJ_G0035818
 protein coding gene ChrX:94007647-94173258 (-)
BALB/cJ MGP_BALBcJ_G0035886
 protein coding gene ChrX:90341170-90496757 (-)
C3H/HeJ MGP_C3HHeJ_G0035594
 protein coding gene ChrX:91880171-92033637 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036415
 protein coding gene ChrX:94289130-94444199 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033242
 protein coding gene ChrX:89707082-89859571 (-)
CAST/EiJ MGP_CASTEiJ_G0034880
 protein coding gene ChrX:76420613-76578354 (-)
CBA/J MGP_CBAJ_G0035569
 protein coding gene ChrX:97042557-97210997 (-)
DBA/2J MGP_DBA2J_G0035724
 protein coding gene ChrX:90790217-90938433 (-)
FVB/NJ MGP_FVBNJ_G0035662
 protein coding gene ChrX:90207604-90355192 (-)
LP/J MGP_LPJ_G0035814
 protein coding gene ChrX:92382588-92544516 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035697
 protein coding gene ChrX:101372911-101535942 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036442
 protein coding gene ChrX:91118062-91268760 (-)
PWK/PhJ MGP_PWKPhJ_G0034579
 protein coding gene ChrX:74111690-74263809 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034408
 protein coding gene ChrX:77221052-77378557 (-)
WSB/EiJ MGP_WSBEiJ_G0035020
 protein coding gene ChrX:89987687-90139226 (-)



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
    neXtProt AC: NX_O43307
    UniProt: O43307

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

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 3 genetic backgrounds
    6 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
    19
  • GO References
    6
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
    761
  • Tissues
    27
  • cDNA Data
    10
  • Literature Summary
    4
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 15
    cDNA 13
    Primer pair 1
    Other 1

    Microarray probesets 7
References
more
  • Summaries
    All 37
    Developmental Gene Expression 4
    Gene Ontology 6
    Phenotypes 6
  • 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:309612 Wagner S, et al., The alpha3 subunit of GABAA receptors promotes formation of inhibitory synapses in the absence of collybistin. J Biol Chem. 2021 Apr 23;:100709
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
11/12/2024
MGI 6.24 		The Jackson Laboratory