ARHGEF2 - Rho/Rac guanine nucleotide exchange factor 2 Gene

Also Known as GEF; Lfc; P40; GEFH1; LFP40; GEF-H1; NEDMHM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9181

About ARHGEF2

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,946,854-155,979,617 (from NCBI)

This gene has 21 transcripts (splice variants), 263 orthologues, 8 paralogues and is associated with 1 phenotype. Ubiquitous expression in lung (RPKM 15.7), spleen (RPKM 12.3) and 24 other tissues.

Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

ARHGEF2 Products (6)

mRNA Protein Name
NM_001162383.2 NP_001155855.1 rho guanine nucleotide exchange factor 2 isoform 1
NM_001162384.2 NP_001155856.1 rho guanine nucleotide exchange factor 2 isoform 2
NM_001350110.2 NP_001337039.1 rho guanine nucleotide exchange factor 2 isoform 4
NM_001350111.2 NP_001337040.1 rho guanine nucleotide exchange factor 2 isoform 4
NM_001350112.2 NP_001337041.1 rho guanine nucleotide exchange factor 2 isoform 5
NM_004723.4 NP_004714.2 rho guanine nucleotide exchange factor 2 isoform 3
Molecular Function GO Annotation Evidence Références Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
9857026 GOA
enables microtubule binding IDA
IDA: Inferred from direct assay
9857026 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14970201 GOA
enables small GTPase binding IDA
IDA: Inferred from direct assay
9857026 GOA
Biological Process GO Annotation Evidence Références Source
involved in actin filament organization IMP
IMP: Inferred from mutant phenotype
9857026 GOA
involved in asymmetric neuroblast division IDA
IDA: Inferred from direct assay
28453519 GOA
involved in cell morphogenesis IMP
IMP: Inferred from mutant phenotype
11912491 GOA
involved in cellular response to muramyl dipeptide IDA
IDA: Inferred from direct assay
21887730 GOA
involved in negative regulation of microtubule depolymerization IMP
IMP: Inferred from mutant phenotype
11912491 GOA
involved in positive regulation of NF-kappaB transcription factor activity IDA
IDA: Inferred from direct assay
19043560 GOA
involved in positive regulation of interleukin-6 production IDA
IDA: Inferred from direct assay
21887730 GOA
involved in positive regulation of neuron differentiation IDA
IDA: Inferred from direct assay
28453519 GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation IDA
IDA: Inferred from direct assay
21887730 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
21887730 GOA
involved in positive regulation of tumor necrosis factor production IDA
IDA: Inferred from direct assay
21887730 GOA
Cellular Component GO Annotation Evidence Références Source
located in cytoplasm IDA
IDA: Inferred from direct assay
21887730 GOA
located in cytoskeleton IDA
IDA: Inferred from direct assay
21887730 GOA
located in microtubule IDA
IDA: Inferred from direct assay
9857026 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
21887730 GOA
located in ruffle membrane IDA
IDA: Inferred from direct assay
19043560 GOA
located in vesicle IDA
IDA: Inferred from direct assay
21887730 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

ARHGEF2 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (239 - 431)

PH

PH: PH domain (474 - 570)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 986 a.a.
Protein Preferred Names Protein Names

rho guanine nucleotide exchange factor 2

  • Rho/Rac guanine nucleotide exchange factor (GEF) 2

ARHGEF2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ARHGEF2 Q92974 RPP25L Homo sapiens Q8N5L8 25416956
Intra
ARHGEF2 Q92974 RPP25L Homo sapiens Q8N5L8 31515488
Intra
ARHGEF2 Q92974 FOXO3 Homo sapiens O43524 25609649
Intra
ARHGEF2 Q92974 YWHAZ Homo sapiens P63104 15161933
Intra
ARHGEF2 Q92974 YWHAZ Homo sapiens P63104 14970201
Intra
ARHGEF2 Q92974 YWHAE Homo sapiens P62258 36931259
Cross: Cross-species interaction Intra: Intraspecies interaction

ARHGEF2 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P810959 GEF H1 Antibody WB, IHC-P Human, Mouse, Rat
HY-P811176 Phospho-GEF H1 (Ser885) Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P82132 GEF H1 Antibody (YA1877) WB, ICC/IF, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
  • NEDMHM

Aarskog-Scott Syndrome
  • Aarskog Syndrome

  • Faciogenital Dysplasia

  • Faciodigitogenital Syndrome

  • AAS

  • Fgdy

  • X-Linked Aarskog Syndrome

  • Intellectual Developmental Disorder, X-Linked, Syndromic 16

  • Aarskog Syndrome, X-Linked

  • Intellectual Developmental Disorder, X-Linked Syndromic 16

  • Greig'S Syndrome

  • Aarskog Scott Syndrome

  • Aarskog Disease

  • Scott Aarskog Syndrome

  • Facio-Digito-Genital Dysplasia

  • Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

  • Aarskog-Scott Syndrome ) Syndrome

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Crohn'S Disease
  • Crohn Disease

  • Pediatric Crohn'S Disease

  • Regional Enteritis

  • Crohn'S Disease Of Large Bowel

  • Granulomatous Colitis

  • Enteritis, Granulomatous

  • Enteritis

  • Crohn'S Disease Of Colon

  • Colitis, Granulomatous

  • Crohn'S Enteritis

  • Enteritis, Regional

  • Ileitis

  • Adenoviral Enteritis

  • Acute Gastroenteropathy Due To Norwalk Agent

  • Viral Gastroenteritis Due To Norwalk Agent

  • Winter Vomiting

  • Epidemic Winter Vomiting Disease

  • Small Round Structured Virus Enteritis

  • Epidemic Vomiting Syndrome

  • Epidemic Vomiting

  • Epidemic Nausea

  • Epidemic Viral Gastroenteritis Due To Norwalk Virus

  • Noroviral Enteritis

  • Crohn Disease Nos

  • Crohns

  • Cd - [Crohn'S Disease]

  • Regional Enteritis Of Bowel

  • Crohn'S Regional Enteritis

  • Cobble-Stone Appearance Of Intestine

  • Intestinal Ulcer And Erosion Due To Crohn Disease

  • Granulomatous Enteritis

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta ARHGEF2 VGNC VGNC:70013
Bos taurus ARHGEF2 VGNC VGNC:26111
Mus musculus ARHGEF2 MGD MGI:103264
Canis familiaris ARHGEF2 VGNC VGNC:38080
Felis catus ARHGEF2 VGNC VGNC:68143
Rattus norvegicus ARHGEF2 RGD RGD:1304659
Others ARHGEF2 NCBI