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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
  • PH Domain-Containing Family G Member 2 3 4
  • Common-Site Lymphoma/Leukemia Guanine Nucleotide Exchange Factor 3
  • Pleckstrin Homology Domain-Containing Family G Member 2 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 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 PLEKHG3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for PLEKHG2 Gene

Genomics for PLEKHG2 Gene

GeneHancer (GH) Regulatory Elements for PLEKHG2 Gene

Promoters and enhancers for PLEKHG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I039397 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 604.5 -5.5 -5507 20 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZFP36 PLEKHG2 HNRNPL ZNF780B FBL ZNF780A SUPT5H AKT2 RN7SL566P RPS16
GH19I039427 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43 +19.6 19564 9.7 MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF416 ZNF143 SP3 NFYC RPS16 HNRNPL FBL ZNF780B AKT2 PLEKHG2 RN7SL566P SUPT5H ENSG00000269688 EID2B
GH19I038647 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.1 -752.8 -752789 25.6 ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC ZC3H11A ACTN4 HNRNPL ZFP30 ZNF607 ZNF781 ZNF573 SUPT5H ENSG00000267152 PAK4 RN7SL566P
GH19I039831 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.2 +420.9 420868 3.6 HDGF PKNOX1 SMAD1 SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF213 E2F8 DYRK1B HNRNPL SNRPA FBL ZNF780B AKT2 RN7SL566P ZNF780A COQ8B PLEKHG2
GH19I038846 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.1 -562.4 -562394 6.6 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 HNRNPL FBL ENSG00000269688 PLEKHG2 RN7SL566P RPS16 PAK4 PAF1 SUPT5H ENSG00000267892
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHG2 gene promoter:

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)

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; Positions=84; Evidence={ECO:0000305}; Sequence=BAB15719.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHG2 Gene

Post-translational modifications for PLEKHG2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PLEKHG2 Gene

Domains & Families for PLEKHG2 Gene

Protein Domains for PLEKHG2 Gene

Suggested Antigen Peptide Sequences for PLEKHG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA,TAS --
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

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

Interacting Proteins for PLEKHG2 Gene

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

Unigene Clusters for PLEKHG2 Gene

Pleckstrin homology domain containing, family G (with RhoGef domain) member 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
PLEKHG2

Expression for PLEKHG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of PLEKHG2 Gene:

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 33 34
  • 99.04 (n)
cow
(Bos Taurus)
Mammalia PLEKHG2 33 34
  • 83.68 (n)
dog
(Canis familiaris)
Mammalia PLEKHG2 33 34
  • 83.07 (n)
rat
(Rattus norvegicus)
Mammalia Plekhg2 33
  • 77.74 (n)
mouse
(Mus musculus)
Mammalia Plekhg2 33 16 34
  • 77.44 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHG2 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHG2 34
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plekhg2 34
  • 17 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GEFmeso 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea uig-1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
  • 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 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)

Paralogs for PLEKHG2 Gene

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

Variants for PLEKHG2 Gene

Sequence variations from dbSNP and Humsavar for PLEKHG2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs201201843 Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) [MIM:616763] 39,416,866(+) C/T coding_sequence_variant, missense_variant
rs370673772 likely-pathogenic, uncertain-significance, Abnormality of brain morphology, not provided 39,422,762(+) G/A coding_sequence_variant, missense_variant
rs373442104 benign, Abnormality of neuronal migration 39,425,206(+) T/C coding_sequence_variant, missense_variant
rs863223387 benign, Abnormality of neuronal migration 39,418,970(+) C/A coding_sequence_variant, missense_variant
rs111487768 likely-benign, not provided 39,423,362(+) G/A coding_sequence_variant, missense_variant

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

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

Disorders for PLEKHG2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PLEKHG2 Gene - From: HGMD, OMIM, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy and acquired microcephaly with or without dystonia
  • ldamd
dystonia
  • dystonic disease
microcephaly
  • microcephalus
leukodystrophy
  • leukodystrophies
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for PLEKHG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLEKHG2: view

No data available for Genatlas for PLEKHG2 Gene

Publications for PLEKHG2 Gene

  1. 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 58
  2. 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 58
  3. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. (PMID: 26573021) Edvardson S … Elpeleg O (Neurogenetics 2016) 3 4 58
  4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PLEKHG2 Gene

Sources for PLEKHG2 Gene