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

Gene ID: 9181, updated on 23-Nov-2021

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
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
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Genomic context

See ARHGEF2 in Genome Data Viewer
Location:
1q22
Exon count:
25
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155946854..155979617, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155916645..155949408, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985207 Neighboring gene relaxin family peptide/INSL5 receptor 4 Neighboring gene microRNA 6738 Neighboring gene ARHGEF2 antisense RNA 2 Neighboring gene ARHGEF2 antisense RNA 1 Neighboring gene uncharacterized LOC107985208 Neighboring gene signal sequence receptor subunit 2 Neighboring gene uncharacterized LOC105371729

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
GeneReviews: Not available
Neurodevelopmental disorder with midbrain and hindbrain malformations
MedGen: C4479613 OMIM: 617523 GeneReviews: Not available
Compare labs

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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
PubMed 
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 cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
PubMed 
involved_in regulation of Rho protein signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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 PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in postsynaptic density, intracellular component IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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

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)

  1. NM_001162383.2NP_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
    Q92974
    Related
    ENSP00000354837.4, ENST00000361247.9
    Conserved Domains (4) summary
    cd00029
    Location:4085
    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:236430
    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:470585
    PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:473571
    PH; PH domain
  2. NM_001162384.2NP_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/Swiss-Prot
    Q92974
    Related
    ENSP00000314787.4, ENST00000313667.8
    Conserved Domains (4) summary
    cd00029
    Location:4085
    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:235429
    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:469584
    PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:472570
    PH; PH domain
  3. NM_001350110.2NP_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
    Conserved Domains (4) summary
    cd00029
    Location:1358
    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:209403
    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:443558
    PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain
    cl25642
    Location:774846
    DUF390; Protein of unknown function (DUF390)
  4. NM_001350111.2NP_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
    Conserved Domains (4) summary
    cd00029
    Location:1358
    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:209403
    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:443558
    PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain
    cl25642
    Location:774846
    DUF390; Protein of unknown function (DUF390)
  5. NM_001350112.2NP_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
    Conserved Domains (4) summary
    cd00029
    Location:2368
    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:218412
    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:452567
    PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain
    cl25642
    Location:783855
    DUF390; Protein of unknown function (DUF390)
  6. NM_004723.4NP_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/Swiss-Prot
    Q92974
    Related
    ENSP00000315325.7, ENST00000313695.11
    Conserved Domains (4) summary
    cd00029
    Location:1358
    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:208402
    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:442557
    PH_ARHGEF2; Rho guanine nucleotide exchange factor 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:445543
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    155946854..155979617 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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