ARHGEF9

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Hepatocytes displayed strong cytoplasmic and nuclear immunoreactivity. Respiratory epithelia, the intestine, thyroid gland, adrenal cortex, Purkinje cellsn neuropil and endothelial cells showed moderate cytoplasmic positivity. Remaining normal cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA035419
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

Chromosome location (bp)

63634967 - 63809274

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131089 (version 78.38)

Entrez gene

23229

UniProt

O43307 (UniProt - Evidence at protein level)

neXtProt

NX_O43307

Antibodypedia

ARHGEF9 antibodies


PROTEIN BROWSER

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ENST00000253401
 
ENST00000374870
 
ENST00000374872
 
ENST00000374878
 
ENST00000437457
 
ENST00000466925
 
ENST00000623417
 
ENST00000623517
 
ENST00000623566
 
ENST00000624210
 
ENST00000624355
 
ENST00000624538
 
ENST00000624843
 
ENST00000625116
 
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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 » 487 57.4 No 0
ARHGEF9-004 ENSP00000364006
ENST00000374872
B1AMR3
Show all »
Show » Show » 495 58.7 No 0
ARHGEF9-006 ENSP00000485086
ENST00000466925
Show » 91 10.9 No 0
ARHGEF9-007 ENSP00000485369
ENST00000623517
Show » Show » 463 55 No 0
ARHGEF9-008 ENSP00000399994
ENST00000437457
O43307
Show all »
Show » Show » 483 56.9 No 0
ARHGEF9-009 ENSP00000485327
ENST00000624355
Show » Show » 115 13.5 No 0
ARHGEF9-010 ENSP00000485626
ENST00000624843
Show » Show » 414 49.5 No 0
ARHGEF9-011 ENSP00000485160
ENST00000625116
Show » Show » 108 13.1 No 0
ARHGEF9-013 ENSP00000364004
ENST00000374870
O43307
Show all »
Show » Show » 564 66.2 No 0
ARHGEF9-014 ENSP00000485144
ENST00000624210
B1AMR3
Show all »
Show » Show » 495 58.7 No 0
ARHGEF9-016 ENSP00000485559
ENST00000623566
Show » Show » 134 15.7 No 0
ARHGEF9-017 ENSP00000485282
ENST00000624538
Show » Show » 42 4.9 No 0
ARHGEF9-019 ENSP00000485083
ENST00000623417
Show » Show » 110 13.3 No 0