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ARHGEF9

GENERAL INFORMATION

Gene name

 ARHGEF9

Gene description

 Cdc42 guanine nucleotide exchange factor (GEF) 9

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 14
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissue, most abundant CNS.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA035419
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

Cytoband

Chromosome location (bp)

 63634967 - 63809274

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000131089 (version 83.38)

Entrez gene

 23229

UniProt

 O43307 (UniProt - Evidence at protein level)

neXtProt

 NX_O43307

Antibodypedia

 ARHGEF9 antibodies

PROTEIN BROWSER
«
ARHGEF9-001
ARHGEF9-002
ARHGEF9-004
ARHGEF9-006
ARHGEF9-007
ARHGEF9-008
ARHGEF9-009
ARHGEF9-010
ARHGEF9-011
ARHGEF9-013
ARHGEF9-014
ARHGEF9-016
ARHGEF9-017
ARHGEF9-019
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ARHGEF9-001
ENSP00000253401
ENST00000253401
O43307 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007268 [synaptic transmission]
GO:0034220 [ion transmembrane transport]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043065 [positive regulation of apoptotic process]
GO:0043547 [positive regulation of GTPase activity]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0055085 [transmembrane transport]
GO:0097190 [apoptotic signaling pathway]
Show all
 516 aa
61 kDa 		No 0
ARHGEF9-002
ENSP00000364012
ENST00000374878
B1AMR4 [Direct mapping]
Cdc42 guanine nucleotide exchange factor (GEF) 9, isoform CRA_c; Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 487 aa
57.4 kDa 		No 0
ARHGEF9-004
ENSP00000364006
ENST00000374872
B1AMR3 [Direct mapping]
Rho guanine nucleotide exchange factor 9; cDNA FLJ59516, highly similar to Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), mRNA
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 495 aa
58.7 kDa 		No 0
ARHGEF9-006
ENSP00000485086
ENST00000466925
A0A096LNK7 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
 91 aa
10.9 kDa 		No 0
ARHGEF9-007
ENSP00000485369
ENST00000623517
O43307 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007268 [synaptic transmission]
GO:0034220 [ion transmembrane transport]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043065 [positive regulation of apoptotic process]
GO:0043547 [positive regulation of GTPase activity]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0055085 [transmembrane transport]
GO:0097190 [apoptotic signaling pathway]
Show all
 463 aa
55 kDa 		No 0
ARHGEF9-008
ENSP00000399994
ENST00000437457
A0A0A6YYB3 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 483 aa
56.9 kDa 		No 0
ARHGEF9-009
ENSP00000485327
ENST00000624355
A0A096LP05 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 115 aa
13.5 kDa 		No 0
ARHGEF9-010
ENSP00000485626
ENST00000624843
O43307 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007268 [synaptic transmission]
GO:0034220 [ion transmembrane transport]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043065 [positive regulation of apoptotic process]
GO:0043547 [positive regulation of GTPase activity]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0055085 [transmembrane transport]
GO:0097190 [apoptotic signaling pathway]
Show all
 414 aa
49.5 kDa 		No 0
ARHGEF9-011
ENSP00000485160
ENST00000625116
A0A096LNQ4 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 108 aa
13.1 kDa 		No 0
ARHGEF9-013
ENSP00000364004
ENST00000374870
A0A0A6YYF8 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 564 aa
66.2 kDa 		No 0
ARHGEF9-014
ENSP00000485144
ENST00000624210
B1AMR3 [Direct mapping]
Rho guanine nucleotide exchange factor 9; cDNA FLJ59516, highly similar to Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), mRNA
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 495 aa
58.7 kDa 		No 0
ARHGEF9-016
ENSP00000485559
ENST00000623566
A0A096LPE7 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 134 aa
15.7 kDa 		No 0
ARHGEF9-017
ENSP00000485282
ENST00000624538
A0A096LNY0 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005515 [protein binding]
Show all
 42 aa
4.9 kDa 		No 0
ARHGEF9-019
ENSP00000485083
ENST00000623417
A0A096LNK4 [Direct mapping]
Rho guanine nucleotide exchange factor 9
Show all
Predicted intracellular proteins
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
Show all
 110 aa
13.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.