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

    Gene ID: 64857, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See PLEKHG2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39412669..39428415)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42216931..42232678)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of a Rho family specific guanine nucleotide exchange factor, FLJ00018, as a novel actin-binding protein. Sato K, et al. Cell Signal, 2013 Jan. PMID 23000341
    2. The importance of interaction with membrane lipids through the pleckstrin homology domain of the guanine nucleotide exchange factor for rho family small guanosine triphosphatase, FLJ00018. Kimura S, et al. Biol Pharm Bull, 2013. PMID 23811570
    3. PLEKHG2 promotes heterotrimeric G protein βγ-stimulated lymphocyte migration via Rac and Cdc42 activation and actin polymerization. Runne C, et al. Mol Cell Biol, 2013 Nov. PMID 24001768, Free PMC Article
    4. PLEKHG2/FLJ00018, a Rho family-specific guanine nucleotide exchange factor, is tyrosine phosphorylated via the EphB2/cSrc signaling pathway. Sato K, et al. Cell Signal, 2014 Apr. PMID 24378532
    5. Threonine 680 phosphorylation of FLJ00018/PLEKHG2, a Rho family-specific guanine nucleotide exchange factor, by epidermal growth factor receptor signaling regulates cell morphology of Neuro-2a cells. Sato K, et al. J Biol Chem, 2014 Apr 4. PMID 24554703, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results suggest that FHL1A specifically interacts with PLEKHG2 to regulate a function of PLEKHG2 that is modified by the interaction of Gbetagamma and Galphas.
      Title: Specific activation of PLEKHG2-induced serum response element-dependent gene transcription by four-and-a-half LIM domains (FHL) 1, but not FHL2 or FHL3.
    2. This is the first report to show that PLEKHG2 is a novel effector of Galphas, and is negatively regulated by the Galphas subunit through direct interaction.
      Title: Heterotrimeric G protein Gαs subunit attenuates PLEKHG2, a Rho family-specific guanine nucleotide exchange factor, by direct interaction.
    3. results provide evidence that FHL1A interacts with PLEKHG2 and regulates cell morphological change through the activity of PLEKHG2.
      Title: Four-and-a-half LIM Domains 1 (FHL1) Protein Interacts with the Rho Guanine Nucleotide Exchange Factor PLEKHG2/FLJ00018 and Regulates Cell Morphogenesis.
    4. Role of PLEKHG2 in actin polymerization and clinical and radiological findings in PLEKHG2 deficiency.
      Title: Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
    5. Autoantibodies binding to Plekhg2 were found in 19 of 29 patients (66%) with active mycobacterial infections.
      Title: Autoantibodies binding to ubiquitin-fold modifier-conjugating enzyme 1 (Ufc1) and pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (Plekhg2) are associated with mycobacterial infections.
    6. The tyrosine phosphorylation of PLEKHG2 plays an important role in EphB2 signaling, which is closely related to cell growth and the proliferation of tumor.
      Title: PLEKHG2/FLJ00018, a Rho family-specific guanine nucleotide exchange factor, is tyrosine phosphorylated via the EphB2/cSrc signaling pathway.
    7. results provide evidence that stimulation of the Ras/MAPK pathway by EGFR results in FLJ00018 phosphorylation at Thr-680, which in turn controls changes in cell shape.
      Title: Threonine 680 phosphorylation of FLJ00018/PLEKHG2, a Rho family-specific guanine nucleotide exchange factor, by epidermal growth factor receptor signaling regulates cell morphology of Neuro-2a cells.
    8. PLEKHG2 may serve as a key Gbeta-gamma-stimulated RhoGEF that regulates lymphocyte chemotaxis via Rac and Cdc42 activation and actin polymerization.
      Title: PLEKHG2 promotes heterotrimeric G protein βγ-stimulated lymphocyte migration via Rac and Cdc42 activation and actin polymerization.
    9. These results suggest that FLJ00018 is targeted via its pleckstrin homology domain to cellular membranes.
      Title: The importance of interaction with membrane lipids through the pleckstrin homology domain of the guanine nucleotide exchange factor for rho family small guanosine triphosphatase, FLJ00018.
    10. The binding of Rho family specific guanine nucleotide exchange factor(FLJ00018), at least two actin binding regions of FLJ00018, and actin negatively regulates for FLJ00018 function.
      Title: Identification of a Rho family specific guanine nucleotide exchange factor, FLJ00018, as a novel actin-binding protein.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leukodystrophy and acquired microcephaly with or without dystonia;
    MedGen: C4225213 OMIM: 616763 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_001351693.2 → NP_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:204 → 354
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00621
      Location:47 → 222
      RhoGEF; RhoGEF domain
      cl26464
      Location:384 → 845
      Atrophin-1; Atrophin-1 family

    2. NM_001351694.2 → NP_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:263 → 413
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00621
      Location:106 → 281
      RhoGEF; RhoGEF domain

    3. NM_022835.3 → NP_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:263 → 413
      PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:337 → 409
      PH; PH domain
      pfam00621
      Location:106 → 282
      RhoGEF; RhoGEF 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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7P9.3 GenPept UniProtKB/Swiss-Prot:Q9H7P9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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