ARHGEF9 - Cdc42 guanine nucleotide exchange factor 9 Gene

Also Known as DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23229

About ARHGEF9

Cytogenetic location: Xq11.1 Genomic coordinates (GRCh38): X:63,634,967-63,785,214 (from NCBI)

This gene has 43 transcripts (splice variants), 179 orthologues, 22 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 18.5), heart (RPKM 6.1) and 21 other tissues.

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. 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]

ARHGEF9 Products (27)

mRNA Protein Name
NM_001173479.2 NP_001166950.1 rho guanine nucleotide exchange factor 9 isoform 2
NM_001173480.2 NP_001166951.1 rho guanine nucleotide exchange factor 9 isoform 3
NM_001330495.2 NP_001317424.1 rho guanine nucleotide exchange factor 9 isoform 4
NM_001353921.2 NP_001340850.1 rho guanine nucleotide exchange factor 9 isoform 5
NM_001353922.2 NP_001340851.1 rho guanine nucleotide exchange factor 9 isoform 6
NM_001353923.1 NP_001340852.1 rho guanine nucleotide exchange factor 9 isoform 7
NM_001353924.2 NP_001340853.1 rho guanine nucleotide exchange factor 9 isoform 8
NM_001353926.2 NP_001340855.1 rho guanine nucleotide exchange factor 9 isoform 9
NM_001353927.2 NP_001340856.1 rho guanine nucleotide exchange factor 9 isoform 10
NM_001353928.2 NP_001340857.1 rho guanine nucleotide exchange factor 9 isoform 11
NM_001369030.1 NP_001355959.1 rho guanine nucleotide exchange factor 9 isoform 1
NM_001369031.1 NP_001355960.1 rho guanine nucleotide exchange factor 9 isoform 12
NM_001369032.1 NP_001355961.1 rho guanine nucleotide exchange factor 9 isoform 12
NM_001369033.1 NP_001355962.1 rho guanine nucleotide exchange factor 9 isoform 4
NM_001369034.1 NP_001355963.1 rho guanine nucleotide exchange factor 9 isoform 4
NM_001369035.1 NP_001355964.1 rho guanine nucleotide exchange factor 9 isoform 4
NM_001369036.1 NP_001355965.1 rho guanine nucleotide exchange factor 9 isoform 4
NM_001369037.1 NP_001355966.1 rho guanine nucleotide exchange factor 9 isoform 4
NM_001369038.1 NP_001355967.1 rho guanine nucleotide exchange factor 9 isoform 4
NM_001369039.1 NP_001355968.1 rho guanine nucleotide exchange factor 9 isoform 8
NM_001369040.1 NP_001355969.1 rho guanine nucleotide exchange factor 9 isoform 9
NM_001369041.1 NP_001355970.1 rho guanine nucleotide exchange factor 9 isoform 10
NM_001369042.1 NP_001355971.1 rho guanine nucleotide exchange factor 9 isoform 3
NM_001369043.1 NP_001355972.1 rho guanine nucleotide exchange factor 9 isoform 13
NM_001369044.1 NP_001355973.1 rho guanine nucleotide exchange factor 9 isoform 13
NM_001369045.1 NP_001355974.1 rho guanine nucleotide exchange factor 9 isoform 14
NM_015185.3 NP_056000.1 rho guanine nucleotide exchange factor 9 isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARHGEF9 Protein Structure

SH3_9

SH3_9: Variant SH3 domain (15 - 62)

RhoGEF

RhoGEF: RhoGEF domain (107 - 286)

PH

PH: PH domain (334 - 422)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 516 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 9

  • Cdc42 guanine nucleotide exchange factor (GEF) 9

ARHGEF9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ARHGEF9 O43307 TSGA10IP Homo sapiens Q3SY00
Validated Y2H
32296183
Intra
ARHGEF9 O43307 ZNF410 Homo sapiens Q86VK4-3
Validated Y2H
32296183
Intra
ARHGEF9 O43307 VEZF1 Homo sapiens Q14119
Validated Y2H
32296183
Intra
ARHGEF9 O43307 FANCL Homo sapiens Q9NW38
Validated Y2H
32296183
Intra
ARHGEF9 O43307 YWHAG Homo sapiens P61981
Validated Y2H
32814053
Intra
ARHGEF9 O43307 YWHAG Homo sapiens P61981
Y2H Array
32814053
Intra
ARHGEF9 O43307 YWHAG Homo sapiens P61981
Y2H Pooling
32814053
Intra
ARHGEF9 O43307 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
32296183
Intra
ARHGEF9 O43307 TBC1D22B Homo sapiens Q9NU19
Validated Y2H
32296183
Intra
ARHGEF9 O43307 SETDB1 Homo sapiens Q15047-2
Validated Y2H
32814053
Intra
ARHGEF9 O43307 SETDB1 Homo sapiens Q15047-2
Y2H Array
32814053
Intra
ARHGEF9 O43307 SETDB1 Homo sapiens Q15047-2
Y2H Pooling
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 8

  • DEE8

  • Epileptic Encephalopathy, Early Infantile, 8

  • Eiee8

  • Hyperekplexia And Epilepsy

  • Developmental And Epileptic Encephalopathy, 8

  • Early Infantile Epileptic Encephalopathy 8

  • Hyperekplexia-Epilepsy Syndrome

  • Hyperekplexia With Epilepsy

  • Startle Disease With Epilepsy

  • Encephalopathy, Epileptic, Early Infantile, Type 8
Hyperekplexia

  • Hereditary Hyperekplexia

  • Kok Disease

  • Congenital Stiff Man Syndrome

  • Familial Startle Disease

  • Sthe

  • Stiff-Baby Syndrome

  • Hereditary Hyperexplexia

  • Startle Disease

  • Exaggerated Startle Reaction

  • Hyperexplexia Hereditary

  • Startle Disease, Familial

  • Startle Reaction, Exaggerated

  • Stiff-Man Syndrome, Congenital

  • Stiff-Person Syndrome, Congenital

  • Congenital Stiff-Man Syndrome

  • Congenital Stiff-Person Syndrome

  • Familial Hyperekplexia

  • Startle Syndrome

  • Stiff Baby Syndrome

  • Hyperekplexia, Hereditary

  • Stiff-Person Syndrome
Hyperekplexia 2

  • HKPX2

  • Autosomal Recessive Hyperekplexia 2

  • Hyperekplexia, Type 2
Developmental And Epileptic Encephalopathy

  • Encephalopathy, Developmental And Epileptic
Retinitis Pigmentosa 84

  • RP84

  • Retinitis Pigmentosa, Type 84
Tetanus Neonatorum

  • Neonatal Tetanus

  • NNT

  • Trismus Neonatorum

  • Newborn Trismus
Ritscher-Schinzel Syndrome 2

  • RTSC2
Hyperekplexia 1

  • HKPX1

  • Exaggerated Startle Reaction

  • Sthe

  • Stiff-Baby Syndrome

  • Kok Disease

  • Startle Disease, Familial

  • Startle Reaction, Exaggerated

  • Stiff-Man Syndrome, Congenital

  • Stiff-Person Syndrome, Congenital

  • Congenital Stiff-Man Syndrome

  • Congenital Stiff-Person Syndrome

  • Familial Startle Disease

  • Hereditary Hyperexplexia 1

  • Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive

  • Hyperekplexia

  • Hereditary Hyperexplexia

  • Stiff-Person Syndrome
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Early Infantile Epileptic Encephalopathy

  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile
Hyperekplexia 3

  • HKPX3

  • Hyperekplexia, Type 3
Epidermolysis Bullosa Simplex 1a, Generalized Severe

  • Epidermolysis Bullosa Simplex, Dowling-Meara Type

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

  • EBS1A

  • Ebsdm

  • Epidermolysis Bullosa Simplex Dowling-Meara Type

  • Epidermolysis Bullosa Simplex, Herpetiformis

  • Ebs-Dm

  • Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

  • Ebs-Gen Sev

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

  • Generalized Severe Epidermolysis Bullosa Simplex

  • Dowling-Meara Type Epidermolysis Bullosa Simplex

  • Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

  • Autosomal Dominant Generalized Ebs, Severe Form

  • Epidermolysis Bullosa Simplex Herpetiformis

  • Dm-Ebs

  • Epidermolysis Bullosa Simplex, Generalized Severe

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara
Autism Spectrum Disorder

  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Epilepsy, Idiopathic Generalized

  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS00965 ARHGEF9 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ARHGEF9 VGNC VGNC:59910
Macaca mulatta ARHGEF9 VGNC VGNC:69828
Mus musculus ARHGEF9 MGD MGI:2442233
Bos taurus ARHGEF9 VGNC VGNC:26122
Rattus norvegicus ARHGEF9 RGD RGD:620719
Canis familiaris ARHGEF9 VGNC VGNC:38092
Others ARHGEF9 NCBI