Identity
HGNC
LOCATION
Xq11.1
LOCUSID
ALIAS
COLLYBISTIN,DEE8,EIEE8,HPEM-2,PEM-2,PEM2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23229
MIM: 300429
HGNC: 14561
Ensembl: ENSG00000131089
Variants:
dbSNP: 23229
ClinVar: 23229
TCGA: ENSG00000131089
COSMIC: ARHGEF9
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35169261 | 2022 | Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit. | 6 |
| 35638461 | 2022 | ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. | 6 |
| 35947460 | 2022 | LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression. | 3 |
| 35169261 | 2022 | Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit. | 6 |
| 35638461 | 2022 | ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. | 6 |
| 35947460 | 2022 | LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression. | 3 |
| 32939676 | 2021 | De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females. | 6 |
| 33600053 | 2021 | Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. | 1 |
| 32939676 | 2021 | De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females. | 6 |
| 33600053 | 2021 | Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. | 1 |
| 31283007 | 2020 | Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma. | 13 |
| 31942680 | 2020 | Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. | 7 |
| 31283007 | 2020 | Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma. | 13 |
| 31942680 | 2020 | Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. | 7 |
| 29130122 | 2018 | ARHGEF9 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/arhgef9
