ARHGEF9 (Gene)

Synonyms:ARHGEF9, COLLYBISTIN, Cdc42 guanine nucleotide exchange factor 9, DEE8, EIEE8, ENTREZ:23229, HGNC:14561, HPEM-2, MIM:300429, NM_001173479, NM_001173480, NM_001330495, NM_001353921, NM_001353922, NM_001353923, NM_001353924, NM_001353926, NM_001353927, NM_001353928, NM_001369030, NM_001369031, NM_001369032, NM_001369033, NM_001369034, NM_001369035, NM_001369036, NM_001369037, NM_001369038, NM_001369039, NM_001369040, NM_001369041, NM_001369042, NM_001369043, NM_001369044, NM_001369045, NM_015185, NP_001166950, NP_001166951, NP_001317424, NP_001340850, NP_001340851, NP_001340852, NP_001340853, NP_001340855, NP_001340856, NP_001340857, NP_001355959, NP_001355960, NP_001355961, NP_001355962, NP_001355963, NP_001355964, NP_001355965, NP_001355966, NP_001355967, NP_001355968, NP_001355969, NP_001355970, NP_001355971, NP_001355972, NP_001355973, NP_001355974, NP_056000, PEM-2, PEM2, XM_017029364, XM_017029374, XM_017029377, XM_017029378, XM_017029380, XM_024452356, XM_024452357, XP_016884853, XP_016884863, XP_016884866, XP_016884867, XP_016884869, XP_024308124, XP_024308125
Id:ENSG00000131089
Entrez:23229
Description:Cdc42 guanine nucleotide exchange factor 9
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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ARHGEF9's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with ARHGEF9.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using ARHGEF9.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for ARHGEF9.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with ARHGEF9.

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