ARHGEF9

GENE INFORMATION

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Gene name

ARHGEF9 (HGNC Symbol)

Synonyms

KIAA0424, PEM-2

Description

Cdc42 guanine nucleotide exchange factor (GEF) 9 (HGNC Symbol)

Entrez gene summary

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. 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.[provided by RefSeq, Mar 2010]

Chromosome

X (Chromosome progress)

Cytoband

q11.1

Chromosome location (bp)

62854847 - 63005426

Ensembl

ENSG00000131089 (version 73.37)

Entrez gene

23229

UniProt

O43307 (UniProt - Evidence at protein level)

neXtProt

NX_O43307

Antibodypedia

ARHGEF9 antibodies
 

PROTEIN VIEW

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ARHGEF9-001
 
ARHGEF9-002
 
ARHGEF9-004
 
ARHGEF9-201
 
ARHGEF9-202
 
ARHGEF9-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ARHGEF9-001 ENSP00000253401
ENST00000253401
O43307
Show all »
Show » Show » 516 61 No 0
ARHGEF9-002 ENSP00000364012
ENST00000374878
B1AMR4
Show all »
Show » Show » 478 56.4 No 0
ARHGEF9-004 ENSP00000364006
ENST00000374872
B1AMR3
Show all »
Show » Show » 495 58.7 No 0
ARHGEF9-201 ENSP00000364004
ENST00000374870
O43307
Show all »
Show » 414 49.5 No 0
ARHGEF9-202 ENSP00000404478
ENST00000433323
B4DGQ8
Show all »
Show » 243 28.7 No 0
ARHGEF9-203 ENSP00000399994
ENST00000437457
O43307
Show all »
Show » 463 55 No 0