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Gene: ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9) Homo sapiens
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Symbol: ARHGEF9
Name: Cdc42 guanine nucleotide exchange factor 9
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Cdc42 guanine nucleotide exchange factor (GEF) 9; collybistin; EIEE8; HPEM-2; hPEM-2 collybistin; KIAA0424; PEM-2; PEM-2 homolog; PEM2; rac/Cdc42 guanine nucleotide exchange factor 9; rho guanine nucleotide exchange factor 9
Orthologs:
Mus musculus (house mouse) : Arhgef9 (CDC42 guanine nucleotide exchange factor (GEF) 9)  MGI  Alliance
Rattus norvegicus (Norway rat) : Arhgef9 (Cdc42 guanine nucleotide exchange factor 9)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Arhgef9 (Cdc42 guanine nucleotide exchange factor 9)
Pan paniscus (bonobo/pygmy chimpanzee) : ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)
Canis lupus familiaris (dog) : ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Arhgef9 (Cdc42 guanine nucleotide exchange factor 9)
Sus scrofa (pig) : ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X63,634,967 - 63,785,546 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X62,854,847 - 63,005,426 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X62,771,573 - 62,891,718 (-)NCBINCBI36hg18NCBI36
Build 34X62,637,868 - 62,758,014NCBI
CeleraX63,201,689 - 63,352,277 (-)NCBI
Cytogenetic MapXq11.1NCBI
HuRefX56,681,875 - 56,830,928 (-)NCBIHuRef
CHM1_1X62,747,364 - 62,897,940 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ARHGEF9
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1348513
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.