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    PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 [ Homo sapiens (human) ]

    Gene ID: 64857, updated on 5-Mar-2024

    Summary

    Official Symbol
    PLEKHG2provided by HGNC
    Official Full Name
    pleckstrin homology and RhoGEF domain containing G2provided by HGNC
    Primary source
    HGNC:HGNC:29515
    See related
    Ensembl:ENSG00000090924 MIM:611893; AllianceGenome:HGNC:29515
    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
    CLG; LDAMD; ARHGEF42; CTB-60E11.4
    Summary
    The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in endometrium (RPKM 7.0), appendix (RPKM 6.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLEKHG2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39412669..39428415)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42216931..42232678)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39903309..39919055)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39900078-39900668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10604 Neighboring gene tRNA-Ile (anticodon TAT) 1-1 Neighboring gene microRNA 4530 Neighboring gene Sharpr-MPRA regulatory region 7883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14620 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39925783-39926362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39928026-39928794 Neighboring gene ribosomal protein S16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39935465-39936262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39936263-39937059 Neighboring gene SPT5 homolog, DSIF elongation factor subunit Neighboring gene small nucleolar RNA, C/D box 175

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ00018, FLJ22458, FLJ38638, DKFZp667J2325

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of actin filament polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    pleckstrin homology domain-containing family G member 2
    Names
    PH domain-containing family G member 2
    common-site lymphoma/leukemia guanine nucleotide exchange factor
    pleckstrin homology domain containing, family G (with RhoGef domain) member 2

    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_054904.2 RefSeqGene

      Range
      10824..26570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351693.2NP_001338622.1  pleckstrin homology domain-containing family G member 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC011500
      Consensus CDS
      CCDS86767.1
      UniProtKB/TrEMBL
      B4DYK2, E7ESZ3
      Related
      ENSP00000408857.2, ENST00000458508.6
      Conserved Domains (3) summary
      cd13243
      Location:204354
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00621
      Location:47222
      RhoGEF; RhoGEF domain
      cl26464
      Location:384845
      Atrophin-1; Atrophin-1 family
    2. NM_001351694.2NP_001338623.1  pleckstrin homology domain-containing family G member 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC011500
      Consensus CDS
      CCDS86766.1
      Related
      ENSP00000386492.1, ENST00000409797.6
      Conserved Domains (2) summary
      cd13243
      Location:263413
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00621
      Location:106281
      RhoGEF; RhoGEF domain
    3. NM_022835.3NP_073746.2  pleckstrin homology domain-containing family G member 2 isoform 1

      See identical proteins and their annotated locations for NP_073746.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC011500, AK024429, AK095957
      Consensus CDS
      CCDS33022.2
      UniProtKB/Swiss-Prot
      B8ZZK6, C9J0Y4, Q6DHV6, Q96BU2, Q96D18, Q9H699, Q9H7P9
      UniProtKB/TrEMBL
      H7BXC7
      Related
      ENSP00000392906.2, ENST00000425673.6
      Conserved Domains (3) summary
      cd13243
      Location:263413
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:337409
      PH; PH domain
      pfam00621
      Location:106282
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      39412669..39428415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      42216931..42232678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)