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
  • ARHGEF42 2 3
  • CLG 2 3
  • Common-Site Lymphoma/Leukemia Guanine Nucleotide Exchange Factor 3
  • CTB-60E11.4 3
  • FLJ00018 2
  • PLEKHG2 5
  • LDAMD 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 Spondylocostal Dysostosis 1, Autosomal Recessive. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.

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).

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 Pubs

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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr19:39,412,582-39,428,415
(GRCh38/hg38)
Size:
15,834 bases
Orientation:
Plus strand

Previous Assembly
chr19:39,903,309-39,919,055
(GRCh37/hg19 by Entrez Gene)
Size:
15,747 bases
Orientation:
Plus strand

chr19:39,903,225-39,919,054
(GRCh37/hg19 by Ensembl)
Size:
15,830 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

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain

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:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 32296183
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG2

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:0043065 positive regulation of apoptotic process TAS --
GO:0050790 regulation of catalytic activity IEA --
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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG2

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Primer products for research

No data available for 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 29 30
  • 99.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHG2 29 30
  • 83.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLEKHG2 29 30
  • 83.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekhg2 29
  • 77.74 (n)
Mouse
(Mus musculus)
Mammalia Plekhg2 29 16 30
  • 77.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLEKHG2 30
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHG2 30
  • 63 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii plekhg2 30
  • 17 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta GEFmeso 30
  • 15 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea uig-1 30
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 27 (a)
OneToMany
Species where no ortholog for PLEKHG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PLEKHG2 Gene

ENSEMBL:
Gene Tree for PLEKHG2 (if available)
TreeFam:
Gene Tree for PLEKHG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHG2: view image
Alliance of Genome Resources:
Additional Orthologs for PLEKHG2

Paralogs for PLEKHG2 Gene

(2) SIMAP similar genes for PLEKHG2 Gene using alignment to 12 proteins:

  • PKHG2_HUMAN
  • C9J7S4_HUMAN
  • C9JVL3_HUMAN
  • E7ESZ3_HUMAN
  • H7BXC7_HUMAN
  • M0QX05_HUMAN
  • M0QZT7_HUMAN
  • M0R0V0_HUMAN
  • M0R348_HUMAN
  • M0R391_HUMAN
  • M0R3G5_HUMAN
  • M0R3J0_HUMAN
genes like me logo Genes that share paralogs with PLEKHG2: view

Variants for PLEKHG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1013158 Likely Benign: not provided 39,417,599(+) C/T
NM_022835.3(PLEKHG2):c.789C>T (p.Arg263=)
SYNONYMOUS
1029862 Uncertain Significance: Leukodystrophy and acquired microcephaly with or without dystonia 39,423,597(+) G/A
NM_022835.3(PLEKHG2):c.2543G>A (p.Arg848Gln)
MISSENSE_VARIANT,INTRON
1029863 Uncertain Significance: Leukodystrophy and acquired microcephaly with or without dystonia 39,424,179(+) G/A
NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile)
MISSENSE_VARIANT,INTRON
1029864 Uncertain Significance: Leukodystrophy and acquired microcephaly with or without dystonia 39,425,145(+) A/G
NM_022835.3(PLEKHG2):c.4012A>G (p.Thr1338Ala)
MISSENSE_VARIANT,INTRON
1029865 Uncertain Significance: Leukodystrophy and acquired microcephaly with or without dystonia 39,425,172(+) G/A
NM_022835.3(PLEKHG2):c.4039G>A (p.Gly1347Arg)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLEKHG2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG2 Gene

Variant ID Type Subtype PubMed ID
nsv523856 CNV loss 19592680

Variation tolerance for PLEKHG2 Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.80; 79.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHG2 Gene

Human Gene Mutation Database (HGMD)
PLEKHG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHG2
Leiden Open Variation Database (LOVD)
PLEKHG2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG2 Gene

Disorders for PLEKHG2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PLEKHG2 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PKHG2_HUMAN
  • Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) [MIM:616763]: An autosomal recessive neurologic disorder characterized by profound mental retardation, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy. {ECO:0000269 PubMed:26573021}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PLEKHG2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PLEKHG2: view

No data available for Genatlas for PLEKHG2 Gene

Publications for PLEKHG2 Gene

  1. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. (PMID: 26573021) Edvardson S … Elpeleg O (Neurogenetics 2016) 3 4 72
  2. Heterotrimeric G protein betagamma subunits stimulate FLJ00018, a guanine nucleotide exchange factor for Rac1 and Cdc42. (PMID: 18045877) Ueda H … Asano T (The Journal of biological chemistry 2008) 2 3 4
  3. Activation of clg, a novel dbl family guanine nucleotide exchange factor gene, by proviral insertion at evi24, a common integration site in B cell and myeloid leukemias. (PMID: 11839748) Himmel KL … Largaespada DA (The Journal of biological chemistry 2002) 2 3 22
  4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 40
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for PLEKHG2 Gene