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    ARHGEF28 Rho guanine nucleotide exchange factor 28 [ Homo sapiens (human) ]

    Gene ID: 64283, updated on 28-Oct-2024

    Summary

    Official Symbol
    ARHGEF28provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 28provided by HGNC
    Primary source
    HGNC:HGNC:30322
    See related
    Ensembl:ENSG00000214944 MIM:612790; AllianceGenome:HGNC:30322
    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
    RIP2; RGNEF; p190RHOGEF
    Summary
    This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
    Expression
    Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ARHGEF28 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (73626196..73941990)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (74107540..74423332)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72922021..73237815)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr5:72860724-72861278 and GRCh37_chr5:72861279-72861833 Neighboring gene ankyrin repeat family A member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:72895316-72895509 Neighboring gene UTP15 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16091 Neighboring gene uncharacterized LOC107986423 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:72989307-72989931 Neighboring gene NANOG hESC enhancer GRCh37_chr5:73042994-73043575 Neighboring gene Sharpr-MPRA regulatory region 14272 Neighboring gene Sharpr-MPRA regulatory region 14554 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:73091866-73093065 Neighboring gene ATP5PF pseudogene 4 Neighboring gene RNA, U7 small nuclear 196 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:73175472-73175972 Neighboring gene uncharacterized LOC105379034 Neighboring gene Sharpr-MPRA regulatory region 15608 Neighboring gene uncharacterized LOC124901003 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:73330922-73332121 Neighboring gene long intergenic non-protein coding RNA 2122

    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

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of 190 kDa guanine nucleotide exchange factor (RGNEF) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells 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

    • FLJ21817, KIAA1998, DKFZp686P12164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in central nervous system neuron axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in neurofilament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 28
    Names
    190 kDa guanine nucleotide exchange factor
    Rho guanine nucleotide exchange factor (GEF) 28
    Rho interacting protein 2
    rho-guanine nucleotide exchange factor

    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.

    Genomic

    1. NG_017198.2 RefSeqGene

      Range
      5039..320833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080479.3NP_001073948.2  rho guanine nucleotide exchange factor 28 isoform 1

      See identical proteins and their annotated locations for NP_001073948.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC091868, AC093283, AK094713, BC157846, CN478799
      Consensus CDS
      CCDS47231.2
      UniProtKB/TrEMBL
      A0A2X0U2G7
      Related
      ENSP00000441913.1, ENST00000545377.5
      Conserved Domains (5) summary
      smart00325
      Location:8531042
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00029
      Location:653698
      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 ...
      cd14680
      Location:10871187
      PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      pfam00169
      Location:11231188
      PH; PH domain
      cl02529
      Location:153216
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    2. NM_001177693.2NP_001171164.1  rho guanine nucleotide exchange factor 28 isoform 2

      See identical proteins and their annotated locations for NP_001171164.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC093283, AK094713, BC171850, CN478799
      Consensus CDS
      CCDS54870.1
      UniProtKB/Swiss-Prot
      B2RXG7, B4E3K4, B5MDA3, B7ZW32, E9PC75, Q8N1W1, Q8NCM7, Q96E37, Q9H6L3, Q9H6W0
      UniProtKB/TrEMBL
      A0A2X0U2G7
      Related
      ENSP00000441436.1, ENST00000513042.7
      Conserved Domains (5) summary
      smart00325
      Location:8531042
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00029
      Location:653698
      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 ...
      cd14680
      Location:10871187
      PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      pfam00169
      Location:11231188
      PH; PH domain
      cl02529
      Location:153216
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    3. NM_001244364.2NP_001231293.1  rho guanine nucleotide exchange factor 28 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC093283, AK025470, AK304761, BG696752
      Consensus CDS
      CCDS58957.1
      UniProtKB/Swiss-Prot
      Q8N1W1
      Related
      ENSP00000296799.4, ENST00000296799.8
      Conserved Domains (4) summary
      smart00325
      Location:540729
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00029
      Location:340385
      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 ...
      cd14680
      Location:774874
      PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      pfam00169
      Location:810875
      PH; PH domain
    4. NM_001388076.1NP_001375005.1  rho guanine nucleotide exchange factor 28 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC008387, AC026702, AC091868, AC093283, KF457926
      UniProtKB/TrEMBL
      A0A2X0U2G7
      Conserved Domains (3) summary
      smart00325
      Location:755944
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd20876
      Location:548608
      C1_p190RhoGEF; protein kinase C conserved region 1 (C1 domain) found in 190 kDa guanine nucleotide exchange factor (p190RhoGEF) and similar proteins
      cl17171
      Location:9891089
      PH-like; Pleckstrin homology-like domain
    5. NM_001388078.1NP_001375007.1  rho guanine nucleotide exchange factor 28 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008387, AC026702, AC091868, AC093283, KF457926
      Consensus CDS
      CCDS93734.1
      UniProtKB/TrEMBL
      A0A2X0U2G7
      Related
      ENSP00000296794.6, ENST00000296794.10
      Conserved Domains (3) summary
      smart00325
      Location:8531042
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14680
      Location:10871187
      PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      cd20876
      Location:646706
      C1_p190RhoGEF; protein kinase C conserved region 1 (C1 domain) found in 190 kDa guanine nucleotide exchange factor (p190RhoGEF) and similar proteins

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      73626196..73941990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      74107540..74423332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022448.1: Suppressed sequence

      Description
      NM_022448.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.