ARHGEF9 Cdc42 guanine nucleotide exchange factor 9
Gene ID: 23229, updated on 4-Jan-2025Gene type: protein coding
Also known as: DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN
- See all available tests in GTR for this gene
- Go to complete Gene record for ARHGEF9
- Go to Variation Viewer for ARHGEF9 variants
Summary
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 8 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-24) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-11-24) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xq11.1
- Sequence:
- Chromosome: X; NC_000023.11 (63634967..63785214, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGEF9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARHGEF9 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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