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

    Gene ID: 9181, updated on 6-Oct-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGEF2 in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:155903710-155904909 Neighboring gene uncharacterized LOC107985207 Neighboring gene Sharpr-MPRA regulatory region 2022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155911483-155911982 Neighboring gene relaxin family peptide/INSL5 receptor 4 Neighboring gene microRNA 6738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1410 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:155931313-155932512 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:155937888-155938119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155946115-155946616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155949474-155950095 Neighboring gene ARHGEF2 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1832 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155953219-155953718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1834 Neighboring gene ARHGEF2 antisense RNA 1 Neighboring gene signal sequence receptor subunit 2 Neighboring gene uncharacterized LOC105371729

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    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

    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 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

    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)

    NEW Try the new Transcript table

    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
      D3DVA6, O75142, Q15079, Q5VY92, Q8TDA3, Q8WUG4, Q92974, Q9H023
      UniProtKB/TrEMBL
      A0A8Q3SIN5
      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/TrEMBL
      A0A8Q3SIN5
      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
      UniProtKB/TrEMBL
      A0A8Q3SIN5
      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
      UniProtKB/TrEMBL
      A0A8Q3SIN5
      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
      UniProtKB/TrEMBL
      A0A8Q3SIN5
      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/TrEMBL
      A0A8Q3SIN5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155084975..155117734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)