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ARHGEF9 (NM_015185) - Cdc42 guanine nucleotide exchange factor 9

Rho Guanine Nucleotide Exchange Factor 9 Isoform 1

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of ARHGEF9 protein. View all 3 isoforms
ARHGEF9: rho guanine nucleotide exchange factor 9 isoform 1
Description:

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].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: AB007884.1, SRR1660805.180481.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]

Strand
-
Chromosome
X
Protein
516 residues
All mutations
110
PTM sites
3
CDS
62,857,907 - 62,974,192
Transcription
62,854,847 - 62,975,031
13.57% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 23229
UniProt
Ensembl