ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)

2006-10-01  

Identity

HGNC
LOCATION
Xq11.1
LOCUSID
ALIAS
COLLYBISTIN,DEE8,EIEE8,HPEM-2,PEM-2,PEM2
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
152153042004The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.86
206220202010Complex role of collybistin and gephyrin in GABAA receptor clustering.63
218079432011Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses.29
216333622011Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.27
182083562008Smurf1 directly targets hPEM-2, a GEF for Cdc42, via a novel combination of protein interaction modules in the ubiquitin-proteasome pathway.17
242979112013Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.16
227782602012Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.15
117278292001Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin.14
256787042015Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.10
258989242016Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.7

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/arhgef9