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

    Gene ID: 64857, updated on 17-Jun-2019

    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
    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

    Genomic context

    See PLEKHG2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (39412582..39428415)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39903222..39919055)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene tRNA-Ile (anticodon TAT) 1-1 Neighboring gene microRNA 4530 Neighboring gene ribosomal protein S16 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
      NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ00018, FLJ22458, FLJ38638, DKFZp667J2325

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    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)

    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_054904.1 RefSeqGene

      Range
      5529..20834
      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
      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
      Q9H7P9
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      39412582..39428415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027150.1XP_016882639.1  pleckstrin homology domain-containing family G member 2 isoform X3

      Conserved Domains (3) summary
      cd13243
      Location:264414
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:338410
      PH; PH domain
      pfam00621
      Location:107283
      RhoGEF; RhoGEF domain
    2. XM_017027151.1XP_016882640.1  pleckstrin homology domain-containing family G member 2 isoform X4

      Related
      ENSP00000205135.3, ENST00000205135.8
      Conserved Domains (3) summary
      cd13243
      Location:264414
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:338410
      PH; PH domain
      pfam00621
      Location:107283
      RhoGEF; RhoGEF domain
    3. XM_006723334.2XP_006723397.1  pleckstrin homology domain-containing family G member 2 isoform X5

      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
      pfam00169
      Location:278350
      PH; PH domain
      pfam00621
      Location:47223
      RhoGEF; RhoGEF domain
    4. XM_011527232.2XP_011525534.1  pleckstrin homology domain-containing family G member 2 isoform X1

      See identical proteins and their annotated locations for XP_011525534.1

      Conserved Domains (3) summary
      cd13243
      Location:264414
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:338410
      PH; PH domain
      pfam00621
      Location:107283
      RhoGEF; RhoGEF domain
    5. XM_005259163.2XP_005259220.1  pleckstrin homology domain-containing family G member 2 isoform X2

      See identical proteins and their annotated locations for XP_005259220.1

      UniProtKB/Swiss-Prot
      Q9H7P9
      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

    RNA

    1. XR_002958344.1 RNA Sequence

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