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 RefSe... See more...

Aliases for PLEKHG2 Gene

Aliases for PLEKHG2 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G2 2 3 5
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 2 2 3
  • Pleckstrin Homology Domain-Containing Family G Member 2 3 4
  • PH Domain-Containing Family G Member 2 3 4
  • Common-Site Lymphoma/Leukemia Guanine Nucleotide Exchange Factor 3
  • CTB-60E11.4 3
  • ARHGEF42 3
  • LDAMD 3
  • CLG 3

External Ids for PLEKHG2 Gene

Previous GeneCards Identifiers for PLEKHG2 Gene

  • GC19P044596
  • GC19P039903
  • GC19P036350

Summaries for PLEKHG2 Gene

Entrez Gene Summary for PLEKHG2 Gene

  • 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]

GeneCards Summary for PLEKHG2 Gene

PLEKHG2 (Pleckstrin Homology And RhoGEF Domain Containing G2) is a Protein Coding gene. Diseases associated with PLEKHG2 include Leukodystrophy And Acquired Microcephaly With Or Without Dystonia and Dystonia. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG1.

UniProtKB/Swiss-Prot Summary for PLEKHG2 Gene

  • May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021).

Additional gene information for PLEKHG2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHG2 Gene

Genomics for PLEKHG2 Gene

GeneHancer (GH) Regulatory Elements for PLEKHG2 Gene

Promoters and enhancers for PLEKHG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHG2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG2

Top Transcription factor binding sites by QIAGEN in the PLEKHG2 gene promoter:
  • AP-1
  • AP-2alphaA
  • c-Ets-1
  • c-Fos
  • c-Jun
  • HEN1
  • p300
  • Sox5

Genomic Locations for PLEKHG2 Gene

Genomic Locations for PLEKHG2 Gene
chr19:39,412,582-39,428,415
(GRCh38/hg38)
Size:
15,834 bases
Orientation:
Plus strand
chr19:39,903,225-39,919,055
(GRCh37/hg19)
Size:
15,831 bases
Orientation:
Plus strand

Genomic View for PLEKHG2 Gene

Genes around PLEKHG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG2 Gene

Proteins for PLEKHG2 Gene

  • Protein details for PLEKHG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7P9-PKHG2_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family G member 2
    Protein Accession:
    Q9H7P9
    Secondary Accessions:
    • B8ZZK6
    • C9J0Y4
    • Q6DHV6
    • Q96BU2
    • Q96D18
    • Q9H699

    Protein attributes for PLEKHG2 Gene

    Size:
    1386 amino acids
    Molecular mass:
    147969 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15364.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB15719.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHG2 Gene

Post-translational modifications for PLEKHG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHG2 Gene

Domains & Families for PLEKHG2 Gene

Gene Families for PLEKHG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PLEKHG2 Gene

Blocks:
  • DH domain
  • Pleckstrin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHG2 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family G member 2 (PKHG2_HUMAN)
genes like me logo Genes that share domains with PLEKHG2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHG2 Gene

Function for PLEKHG2 Gene

Molecular function for PLEKHG2 Gene

UniProtKB/Swiss-Prot Function:
May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021).

Phenotypes From GWAS Catalog for PLEKHG2 Gene

Gene Ontology (GO) - Molecular Function for PLEKHG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with PLEKHG2: view
genes like me logo Genes that share phenotypes with PLEKHG2: view

Human Phenotype Ontology for PLEKHG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for PLEKHG2 Gene

miRTarBase miRNAs that target PLEKHG2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHG2 Gene

Localization for PLEKHG2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHG2 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PLEKHG2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLEKHG2 Gene

Pathways & Interactions for PLEKHG2 Gene

genes like me logo Genes that share pathways with PLEKHG2: view

Gene Ontology (GO) - Biological Process for PLEKHG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0030833 regulation of actin filament polymerization IMP 26573021
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with PLEKHG2: view

No data available for SIGNOR curated interactions for PLEKHG2 Gene

Drugs & Compounds for PLEKHG2 Gene

No Compound Related Data Available

Transcripts for PLEKHG2 Gene

mRNA/cDNA for PLEKHG2 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1:
SP2: -
SP3:
SP4: - - - -
SP5: - - - -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PLEKHG2 Gene

GeneLoc Exon Structure for
PLEKHG2

Expression for PLEKHG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHG2 Gene

Protein differential expression in normal tissues from HIPED for PLEKHG2 Gene

This gene is overexpressed in Prostate (39.3) and Frontal cortex (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHG2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG2

SOURCE GeneReport for Unigene cluster for PLEKHG2 Gene:

Hs.631574

Evidence on tissue expression from TISSUES for PLEKHG2 Gene

  • Pancreas(4.6)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with PLEKHG2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG2 Gene

Orthologs for PLEKHG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHG2 31 30
  • 99.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHG2 31 30
  • 83.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG2 31 30
  • 83.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhg2 30
  • 77.74 (n)
mouse
(Mus musculus)
Mammalia Plekhg2 17 31 30
  • 77.44 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHG2 31
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHG2 31
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plekhg2 31
  • 17 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GEFmeso 31
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea uig-1 31
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for PLEKHG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)