2. Gene
  3. ARHGEF9 - Cdc42 guanine nucleotide exchange factor 9 Gene

ARHGEF9 - Cdc42 guanine nucleotide exchange factor 9 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 23229 | Gene type: protein coding

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

ARHGEF9 Protein Structure

SH3_9

SH3_9: Variant SH3 domain (15 - 62)

RhoGEF

RhoGEF: RhoGEF domain (107 - 286)

PH

PH: PH domain (334 - 422)

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  • 516 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 9

Cdc42 guanine nucleotide exchange factor (GEF) 9

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00965 ARHGEF9 Human Pre-designed siRNA Set A / 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