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

Gene ID: 64857, updated on 21-Dec-2019

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
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

Genomic context

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See PLEKHG2 in Genome Data Viewer
Location:
19q13.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 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

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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. 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
  2. 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
  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. 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
  5. 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

See all (24) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
  
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
  
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
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_054904.1 RefSeqGene

    Range
    5088..20834
    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
    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
    Q9H7P9
    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: Homo sapiens Updated Annotation Release 109.20191205

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_017027150.1 → XP_016882639.1  pleckstrin homology domain-containing family G member 2 isoform X3

    Conserved Domains (3) summary
    cd13243
    Location:264 → 414
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:338 → 410
    PH; PH domain
    pfam00621
    Location:107 → 283
    RhoGEF; RhoGEF domain

  2. XM_017027151.1 → XP_016882640.1  pleckstrin homology domain-containing family G member 2 isoform X4

    Related
    ENSP00000205135.3, ENST00000205135.8
    Conserved Domains (3) summary
    cd13243
    Location:264 → 414
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:338 → 410
    PH; PH domain
    pfam00621
    Location:107 → 283
    RhoGEF; RhoGEF domain

  3. XM_006723334.2 → XP_006723397.1  pleckstrin homology domain-containing family G member 2 isoform X5

    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
    pfam00169
    Location:278 → 350
    PH; PH domain
    pfam00621
    Location:47 → 223
    RhoGEF; RhoGEF domain

  4. XM_011527232.2 → XP_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:264 → 414
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:338 → 410
    PH; PH domain
    pfam00621
    Location:107 → 283
    RhoGEF; RhoGEF domain

  5. XM_005259163.2 → XP_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: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

RNA

  1. XR_002958344.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H7P9.3 GenPept UniProtKB/Swiss-Prot:Q9H7P9

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