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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 RET signaling. 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

Regulatory Elements for PLEKHG2 Gene

Enhancers for PLEKHG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H039397 2 FANTOM5 ENCODE dbSUPER 55.3 -5.5 -5508 20 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 HNRNPL ZNF780B FBL SUPT5H AKT2 RN7SL566P ZNF780A EID2B PLEKHG2 ZFP36
GH19H038647 1.8 FANTOM5 ENCODE dbSUPER 39.9 -752.8 -752790 25 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 ZC3H11A NFYC ZFP41 HNRNPL ZFP30 ZNF781 ZNF573 ZNF607 ENSG00000267152 SUPT5H PAK4 PAF1 PLEKHG2
GH19H038846 1.4 ENCODE dbSUPER 39.8 -562.4 -562394 6 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 ZC3H11A HNRNPL FBL PLEKHG2 PAF1 SUPT5H RPS16 PAK4 ENSG00000266963 ENSG00000269688 RN7SL566P
GH19H039427 2.1 FANTOM5 Ensembl ENCODE dbSUPER 25 +19.6 19565 9 MLX ZFP64 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZFP41 SSRP1 HNRNPL RPS16 ZNF780B FBL SUPT5H AKT2 EID2B RN7SL566P PLEKHG2 SAMD4B
GH19H038862 1.6 Ensembl ENCODE dbSUPER 31.1 -548.3 -548288 4 PKNOX1 ARNT SIN3A FEZF1 YBX1 ZNF2 YY1 FOS ZNF548 REST HNRNPL FBL RN7SL566P ENSG00000269688 PLEKHG2 RPS16 ENSG00000268756 EID2B PAF1 SUPT5H
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHG2 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000288346 618 2801 MLX FEZF1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A

Genomic Location for PLEKHG2 Gene

Chromosome:
19
Start:
39,412,582 bp from pter
End:
39,428,415 bp from pter
Size:
15,834 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; 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Animal Model Products

CRISPR Products

miRNA for PLEKHG2 Gene

miRTarBase miRNAs that target PLEKHG2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLEKHG2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: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:0043547 positive regulation of GTPase 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

Unigene Clusters for PLEKHG2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLEKHG2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 Sequence Context AA Info Type
rs201201843 Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) [MIM:616763] 39,416,866(+) TGCTC(C/T)GGGAG reference, missense
rs373442104 Benign 39,425,206(+) CCGGT(C/T)GAACC reference, missense
rs863223387 Benign 39,418,970(+) CTCTT(A/C)TTTGA reference, missense
rs1000198214 -- 39,417,373(+) GTCTC(A/G)AACTC intron-variant
rs1000374028 -- 39,420,214(+) AATTA(C/T)CGGGT intron-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)

Relevant External Links 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.

Relevant External Links for PLEKHG2

Genetic Association Database (GAD)
PLEKHG2
Human Genome Epidemiology (HuGE) Navigator
PLEKHG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHG2
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 60
  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 60
  3. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. (PMID: 26573021) Edvardson S … Elpeleg O (Neurogenetics 2016) 3 4 60
  4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for PLEKHG2 Gene

Sources for PLEKHG2 Gene

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