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    ARHGEF4 Rho guanine nucleotide exchange factor 4 [ Homo sapiens (human) ]

    Gene ID: 50649, updated on 5-Mar-2024

    Summary

    Official Symbol
    ARHGEF4provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 4provided by HGNC
    Primary source
    HGNC:HGNC:684
    See related
    Ensembl:ENSG00000136002 MIM:605216; AllianceGenome:HGNC:684
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASEF; GEF4; STM6; ASEF1; SMIM39
    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 protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
    Expression
    Biased expression in brain (RPKM 13.8), skin (RPKM 13.1) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ARHGEF4 in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130836914..131047253)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131271158..131481546)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131594487..131804826)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:131543220-131543720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11963 Neighboring gene CYCS pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131571909-131572408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131577629-131578232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131580955-131581530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131581531-131582108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131583263-131583838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131583839-131584416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131584417-131584994 Neighboring gene ARHGEF4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131603815-131604349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131605209-131605886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131607901-131608435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131639059-131639560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131654824-131655422 Neighboring gene small Cajal body-specific RNA 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:131706954-131707281 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:131724236-131724855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131743536-131744354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131799328-131800200 Neighboring gene small integral membrane protein 39 Neighboring gene family with sequence similarity 168 member B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11964 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:131855480-131855651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131856285-131856785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131871473-131872062 Neighboring gene pleckstrin homology domain containing B2

    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2018-04-05)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2018-04-05)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in filopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 4
    Names
    APC-stimulated guanine nucleotide exchange factor 1
    Rho guanine nucleotide exchange factor (GEF) 4

    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_001367493.1NP_001354422.1  rho guanine nucleotide exchange factor 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AB042199, AC009477, AC112786, AC133785, BC139742
      Consensus CDS
      CCDS92866.1
      UniProtKB/TrEMBL
      E7EV07
      Related
      ENSP00000386794.3, ENST00000409359.7
    2. NM_001375900.1NP_001362829.1  rho guanine nucleotide exchange factor 4 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC009477, AC112786, AC133785
      UniProtKB/TrEMBL
      A0A2X0SFW4
      Related
      ENSP00000376680.5, ENST00000392953.8
      Conserved Domains (3) summary
      cd11973
      Location:195267
      SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
      smart00325
      Location:303482
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:487626
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    3. NM_001375901.1NP_001362830.1  rho guanine nucleotide exchange factor 4 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC009477, AC112786, AC133785
      UniProtKB/TrEMBL
      A0A2X0SFW4
      Conserved Domains (3) summary
      cd11973
      Location:143215
      SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
      smart00325
      Location:251430
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:435574
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    4. NM_001375902.1NP_001362831.1  rho guanine nucleotide exchange factor 4 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC009477, AC112786
      Conserved Domains (3) summary
      cd11973
      Location:138201
      SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
      smart00325
      Location:237416
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:421560
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    5. NM_001375903.1NP_001362832.1  rho guanine nucleotide exchange factor 4 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC009477, AC112786
      UniProtKB/TrEMBL
      Q9NTG0
      Conserved Domains (3) summary
      cd11973
      Location:120182
      SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
      smart00325
      Location:218397
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:402541
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    6. NM_001375904.1NP_001362833.1  rho guanine nucleotide exchange factor 4 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC009477, AC112786
      UniProtKB/TrEMBL
      Q53TH6
      Related
      ENSP00000387285.2, ENST00000409303.6
      Conserved Domains (3) summary
      cd11973
      Location:57129
      SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
      smart00325
      Location:165344
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:349488
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    7. NM_001395416.1NP_001382345.1  rho guanine nucleotide exchange factor 4 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC009477
      UniProtKB/TrEMBL
      Q9NTG0
      Related
      ENST00000528247.2
      Conserved Domains (3) summary
      smart00325
      Location:81260
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:265404
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
      cl17036
      Location:145
      SH3; Src Homology 3 domain superfamily
    8. NM_015320.4NP_056135.2  rho guanine nucleotide exchange factor 4 isoform a

      See identical proteins and their annotated locations for NP_056135.2

      Status: REVIEWED

      Source sequence(s)
      AB042199, AC112786, AC133785, AF249745, AL137289
      Consensus CDS
      CCDS2165.1
      UniProtKB/Swiss-Prot
      Q9HDC6, Q9NR80, Q9UPP0
      UniProtKB/TrEMBL
      A0A2X0SFW4
      Related
      ENSP00000316845.5, ENST00000326016.10
      Conserved Domains (4) summary
      cd11973
      Location:180252
      SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
      cd01224
      Location:472611
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:500601
      PH; PH domain
      pfam00621
      Location:288467
      RhoGEF; RhoGEF domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      130836914..131047253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      131271158..131481546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032995.2: Suppressed sequence

      Description
      NM_032995.2: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.