ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGEF2provided by HGNC
Official Full Name: Rho/Rac guanine nucleotide exchange factor 2provided by HGNC
Primary source: HGNC:HGNC:682
See related: Ensembl:ENSG00000116584 MIM:607560; AllianceGenome:HGNC:682
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GEF; Lfc; P40; GEFH1; LFP40; GEF-H1; NEDMHM
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]
Expression: Ubiquitous expression in lung (RPKM 15.7), spleen (RPKM 12.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (155946854..155979617, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155084975..155117734, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (155916645..155949408, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Decoupling actin assembly from microtubule disassembly by TBC1D3C-mediated direct GEF-H1 activation.
Title: Decoupling actin assembly from microtubule disassembly by TBC1D3C-mediated direct GEF-H1 activation.
Fidgetin-like 2 depletion enhances cell migration by regulating GEF-H1, RhoA, and FAK.
Title: Fidgetin-like 2 depletion enhances cell migration by regulating GEF-H1, RhoA, and FAK.
Reducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis.
Title: Reducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis.
Androgen deprivation restores ARHGEF2 to promote neuroendocrine differentiation of prostate cancer.
Title: Androgen deprivation restores ARHGEF2 to promote neuroendocrine differentiation of prostate cancer.
N6-Methyladenosine Reader YTHDF1 Promotes ARHGEF2 Translation and RhoA Signaling in Colorectal Cancer.
Title: N6-Methyladenosine Reader YTHDF1 Promotes ARHGEF2 Translation and RhoA Signaling in Colorectal Cancer.
Monitoring the Response of Multiple Signal Network Components to Acute Chemo-Optogenetic Perturbations in Living Cells.
Title: Monitoring the Response of Multiple Signal Network Components to Acute Chemo-Optogenetic Perturbations in Living Cells.
Phosphorylated cingulin localises GEF-H1 at tight junctions to protect vascular barriers in blood endothelial cells.
Title: Phosphorylated cingulin localises GEF-H1 at tight junctions to protect vascular barriers in blood endothelial cells.
High ARHGEF2 (GEF-H1) Expression is Associated with Poor Prognosis Via Cell Cycle Regulation in Patients with Pancreatic Cancer.
Title: High ARHGEF2 (GEF-H1) Expression is Associated with Poor Prognosis Via Cell Cycle Regulation in Patients with Pancreatic Cancer.
The RhoA regulators Myo9b and GEF-H1 are targets of cyclic nucleotide-dependent kinases in platelets.
Title: The RhoA regulators Myo9b and GEF-H1 are targets of cyclic nucleotide-dependent kinases in platelets.
Relation of ADRB3, GEF, ROCK2 gene polymorphisms to clinical findings in overactive bladder.
Title: Relation of ADRB3, GEF, ROCK2 gene polymorphisms to clinical findings in overactive bladder.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with midbrain and hindbrain malformations MedGen: C4479613 OMIM: 617523 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of ARHGEF2	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70822 (e-PCR)
- UniSTS:18694

G15881 (e-PCR)
- UniSTS:54377

RH12218 (e-PCR)
- UniSTS:15807

RH93673 (e-PCR)
- UniSTS:89321

D21S1418 (e-PCR)
- UniSTS:148216

Clone Names

FLJ45440, KIAA0651, DKFZp547L106, DKFZp547P1516

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in asymmetric neuroblast division	IDA Inferred from Direct Assay more info	PubMed
involved_in cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular hyperosmotic response	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of necroptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Rho protein signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in ruffle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rho guanine nucleotide exchange factor 2

Names: Rho/Rac guanine nucleotide exchange factor (GEF) 2; guanine nucleotide exchange factor H1; microtubule-regulated Rho-GEF; proliferating cell nucleolar antigen p40

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001162383.2 → NP_001155855.1 rho guanine nucleotide exchange factor 2 isoform 1

See identical proteins and their annotated locations for NP_001155855.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL355388, BC020567, BC027722, CN388788

Consensus CDS

CCDS53376.1

UniProtKB/Swiss-Prot

D3DVA6, O75142, Q15079, Q5VY92, Q8TDA3, Q8WUG4, Q92974, Q9H023

UniProtKB/TrEMBL

A0A8Q3SIN5

Related

ENSP00000354837.4, ENST00000361247.9

Conserved Domains (4) summary

cd00029
Location:40 → 85

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd00160
Location:236 → 430

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13393
Location:470 → 585

PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain

pfam00169
Location:473 → 571

PH; PH domain
NM_001162384.2 → NP_001155856.1 rho guanine nucleotide exchange factor 2 isoform 2

See identical proteins and their annotated locations for NP_001155856.1

Status: VALIDATED

Description

Transcript Variant: Thsi variant (2) has an alternate splice site in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal amino acid, as compared to isoform 1.

Source sequence(s)

AF486838, AL355388, AL512715, BC020567, CN388788

Consensus CDS

CCDS53375.1

UniProtKB/TrEMBL

A0A8Q3SIN5

Related

ENSP00000314787.4, ENST00000313667.8

Conserved Domains (4) summary

cd00029
Location:40 → 85

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd00160
Location:235 → 429

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13393
Location:469 → 584

PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain

pfam00169
Location:472 → 570

PH; PH domain
NM_001350110.2 → NP_001337039.1 rho guanine nucleotide exchange factor 2 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate 5' exon, resulting in a distinct 5' UTR, use of a downstream start codon, and uses two alternate in-frame splice sites in the 5' and 3' coding regions, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, and contains an internal segment compared to isoform 1. Variants 4 and 5 encode the same protein (isoform 4).

Source sequence(s)

AL512715, AL527706, BM476546, BM552445, DA344419

UniProtKB/TrEMBL

A0A8Q3SIN5

Conserved Domains (4) summary

cd00029
Location:13 → 58

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd00160
Location:209 → 403

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13393
Location:443 → 558

PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain

cl25642
Location:774 → 846

DUF390; Protein of unknown function (DUF390)
NM_001350111.2 → NP_001337040.1 rho guanine nucleotide exchange factor 2 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains an alternate 5' exon, resulting in a distinct 5' UTR, use of a downstream start codon, and uses two alternate in-frame splice sites in the 5' and 3' coding regions, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, and contains an internal segment compared to isoform 1. Variants 4 and 5 encode the same protein (isoform 4).

Source sequence(s)

AL512715, AL527706, BM146462, BM476546, BM552445, HY130236

UniProtKB/TrEMBL

A0A8Q3SIN5

Conserved Domains (4) summary

cd00029
Location:13 → 58

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd00160
Location:209 → 403

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13393
Location:443 → 558

PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain

cl25642
Location:774 → 846

DUF390; Protein of unknown function (DUF390)
NM_001350112.2 → NP_001337041.1 rho guanine nucleotide exchange factor 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (6) contains an alternate 5' exon, resulting in a distinct 5' UTR, use of an alternate start codon, and uses an alternate in-frame slice site in the 3' coding region. The resulting isoform (5) has a shorter N-terminus, and contains an internal segment compared to isoform 1.

Source sequence(s)

AL355388, AL512715, AL527706, BF349572, BM476546, BM552445

UniProtKB/TrEMBL

A0A8Q3SIN5

Conserved Domains (4) summary

cd00029
Location:23 → 68

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd00160
Location:218 → 412

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13393
Location:452 → 567

PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain

cl25642
Location:783 → 855

DUF390; Protein of unknown function (DUF390)
NM_004723.4 → NP_004714.2 rho guanine nucleotide exchange factor 2 isoform 3

See identical proteins and their annotated locations for NP_004714.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AL512715, CN264153

Consensus CDS

CCDS1125.1

UniProtKB/TrEMBL

A0A8Q3SIN5

Related

ENSP00000315325.7, ENST00000313695.11

Conserved Domains (4) summary

cd00029
Location:13 → 58

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd00160
Location:208 → 402

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13393
Location:442 → 557

PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain

pfam00169
Location:445 → 543

PH; PH domain