ARHGEF9
Sign in to saveAlso known as COLLYBISTIN, EIEE8, HPEM-2, PEM-2, PEM2, Cdc42 guanine nucleotide exchange factor 9, DEE8
Rho guanine nucleotide exchange factor 9 is a protein that in humans is encoded by the ARHGEF9 gene.
Gene data
ARHGEF9- Name
- Cdc42 guanine nucleotide exchange factor 9
- Type
- protein-coding
- Chromosome
- X
- Aliases
- COLLYBISTIN, DEE8, EIEE8, HPEM-2, PEM-2, PEM2
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].
via MyGene.info
Gene · Ensembl
Cdc42 guanine nucleotide exchange factor 9
- Symbol
- ARHGEF9
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:63,634,967-63,809,274
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ARHGEF9 PDB 2dfk.png
Show 5 more facts
- HomoloGene ID
- 9053
- exact match
- identifiers.org/ncbigene/23229
- genomic start
- 62854847
- genomic end
- 63005426
- cytogenetic location
- Xq11.1
Sources (3)
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Interactions
- References
- External links
- Further reading
Rho guanine nucleotide exchange factor 9 is a protein that in humans is encoded by the ARHGEF9 gene.
== Function ==