ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)

2006-10-01  

Identity

HGNC
ARHGEF9
LOCATION
Xq11.1
LOCUSID
23229
ALIAS
COLLYBISTIN,DEE8,EIEE8,HPEM-2,PEM-2,PEM2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23229
MIM: 300429
HGNC: 14561
Ensembl: ENSG00000131089

Variants:

dbSNP: 23229
ClinVar: 23229
TCGA: ENSG00000131089
COSMIC: ARHGEF9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131089ENST00000253401O43307
ENSG00000131089ENST00000374870A0A0A6YYF8
ENSG00000131089ENST00000374872B1AMR3
ENSG00000131089ENST00000374878B1AMR4
ENSG00000131089ENST00000437457A0A0A6YYB3
ENSG00000131089ENST00000466925A0A096LNK7
ENSG00000131089ENST00000495564A0A096LPI8
ENSG00000131089ENST00000623417A0A096LNK4
ENSG00000131089ENST00000623517O43307
ENSG00000131089ENST00000623566A0A096LPE7
ENSG00000131089ENST00000624210B1AMR3
ENSG00000131089ENST00000624355A0A096LP05
ENSG00000131089ENST00000624538A0A096LNY0
ENSG00000131089ENST00000624843O43307
ENSG00000131089ENST00000625116A0A096LNQ4
ENSG00000131089ENST00000635729A0A1B0GWI5
ENSG00000131089ENST00000635967B1AMR3
ENSG00000131089ENST00000636048B1AMR3
ENSG00000131089ENST00000636102A0A1B0GVX8
ENSG00000131089ENST00000636145A0A1B0GU85
ENSG00000131089ENST00000636276A0A1B0GV82
ENSG00000131089ENST00000636392B1AMR3
ENSG00000131089ENST00000636926A0A1B0GVV2
ENSG00000131089ENST00000637040A0A1B0GVC4
ENSG00000131089ENST00000637178B1AMR3
ENSG00000131089ENST00000637417B1AMR3
ENSG00000131089ENST00000637520B1AMR3
ENSG00000131089ENST00000637557B1AMR3
ENSG00000131089ENST00000637723A0A1B0GTC2
ENSG00000131089ENST00000637855A0A1B0GTF0
ENSG00000131089ENST00000638021A0A1B0GV84
ENSG00000131089ENST00000639092A0A1W2PQW9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA A receptor activationREACTOMER-HSA-977441
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ligand-gated ion channel transportREACTOMER-HSA-975298

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
351692612022Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit.6
356384612022ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.6
359474602022LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression.3
351692612022Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit.6
356384612022ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.6
359474602022LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression.3
329396762021De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.6
336000532021Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.1
329396762021De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.6
336000532021Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.1
312830072020Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.13
319426802020Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.7
312830072020Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.13
319426802020Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.7
291301222018ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.27

Citation

Dessen P

ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43154/js/_common.js