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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ARHGEF9 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23229
Official gene symbolARHGEF9
Full nameCdc42 guanine nucleotide exchange factor (GEF) 9
Aliases,COLLYBISTIN,HPEM-2,KIAA0424,PEM-2,PEM2,
Gene summaryThe 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. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.
LocationChromosome: X   Locus: Xq11.1
Gene position63005426 - 62854848  Map Viewer
Gene orientationminus
Gene size150579 bp
Gene sequence
OMIM ID300429