Aliases for PLEKHG3 Gene

Aliases for PLEKHG3 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G3 2 3 5
  • KIAA0599 2 3 4
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 3 2 3
  • Pleckstrin Homology Domain-Containing Family G Member 3 3 4
  • PH Domain-Containing Family G Member 3 3 4
  • Pleckstrin Homology Domain Containing, Family G, Member 3 3
  • ARHGEF43 3

External Ids for PLEKHG3 Gene

Previous HGNC Symbols for PLEKHG3 Gene

  • KIAA0599

Previous GeneCards Identifiers for PLEKHG3 Gene

  • GC14P064240
  • GC14P065172
  • GC14P045343

Summaries for PLEKHG3 Gene

GeneCards Summary for PLEKHG3 Gene

PLEKHG3 (Pleckstrin Homology And RhoGEF Domain Containing G3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity.

Additional gene information for PLEKHG3 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHG3 Gene

Genomics for PLEKHG3 Gene

GeneHancer (GH) Regulatory Elements for PLEKHG3 Gene

Promoters and enhancers for PLEKHG3 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
GH14J064700 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 530.3 +1.9 1929 10.4 HNRNPK TCF12 USF1 NCOR1 PHF8 FOS TEAD4 ZFX ZIC2 CLOCK PLEKHG3 lnc-SPTB-1 MAX ENSG00000214770 PPP1R36 GPX2 CHURC1 SYNE2 MTHFD1 ZBTB1
GH14J064737 Promoter/Enhancer 0.7 EPDnew dbSUPER 500.3 +33.9 33881 0.1 ZNF263 ZNF513 PLEKHG3 PPP1R36 piR-36975 lnc-SPTB-1
GH14J064714 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.8 +17.1 17059 14 ZNF217 ZSCAN5C TCF12 FOS ZNF639 ZIC2 POLR2A CLOCK ZNF423 TRIM28 PLEKHG3 ZBTB1 PPP1R36 MAX ZBTB25 CHURC1 lnc-SPTB-1 piR-36975
GH14J064733 Enhancer 1 Ensembl ENCODE dbSUPER 25.9 +31.4 31360 4.1 NCOR1 ZIC2 CTCF NR3C1 TAF15 RAD21 HNF4A KDM1A ESR1 NFIA PLEKHG3 PPP1R36 SPTB piR-36975 lnc-SPTB-1
GH14J064745 Enhancer 0.8 Ensembl ENCODE dbSUPER 20.8 +42.6 42574 3 NR2F2 CTCF RAD21 BHLHE40 SMC3 CEBPB ESR1 ZNF600 piR-36975 PLEKHG3 PPP1R36 GPX2 SPTB HSPA2 piR-61945-141
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHG3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG3

Top Transcription factor binding sites by QIAGEN in the PLEKHG3 gene promoter:
  • AML1a
  • c-Myb
  • E47
  • Elk-1
  • FOXO4
  • GATA-6
  • Ik-3
  • LUN-1
  • Tal-1beta

Genomic Locations for PLEKHG3 Gene

Genomic Locations for PLEKHG3 Gene
chr14:64,704,102-64,750,249
(GRCh38/hg38)
Size:
46,148 bases
Orientation:
Plus strand
chr14:65,170,820-65,213,610
(GRCh37/hg19)
Size:
42,791 bases
Orientation:
Plus strand

Genomic View for PLEKHG3 Gene

Genes around PLEKHG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG3 Gene

Proteins for PLEKHG3 Gene

  • Protein details for PLEKHG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A1L390-PKHG3_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family G member 3
    Protein Accession:
    A1L390
    Secondary Accessions:
    • A1L389
    • B5MEC9
    • O60339
    • Q6GMS3
    • Q6P4B1
    • Q7L3S3
    • Q86SW7
    • Q8TEF5
    • Q96EW6
    • Q9BT82

    Protein attributes for PLEKHG3 Gene

    Size:
    1219 amino acids
    Molecular mass:
    134412 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB84995.1; Type=Miscellaneous discrepancy; Note=Intron retention. There are two regions of intron retention within the sequence which cause it to shift frame.; Evidence={ECO:0000305}; Sequence=CAD66586.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHG3 Gene

Post-translational modifications for PLEKHG3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHG3 Gene

Domains & Families for PLEKHG3 Gene

Gene Families for PLEKHG3 Gene

Protein Domains for PLEKHG3 Gene

Suggested Antigen Peptide Sequences for PLEKHG3 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family G member 3 (PKHG3_HUMAN)
genes like me logo Genes that share domains with PLEKHG3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHG3 Gene

Function for PLEKHG3 Gene

Phenotypes From GWAS Catalog for PLEKHG3 Gene

Gene Ontology (GO) - Molecular Function for PLEKHG3 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 PLEKHG3: view
genes like me logo Genes that share phenotypes with PLEKHG3: view

Animal Models for PLEKHG3 Gene

MGI Knock Outs for PLEKHG3:
  • Plekhg3 Plekhg3<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for PLEKHG3 Gene

miRTarBase miRNAs that target PLEKHG3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLEKHG3 Gene

Localization for PLEKHG3 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 PLEKHG3 gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
  • Centrosome (2)
  • Cytokinetic bridge (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PLEKHG3 Gene

Pathways & Interactions for PLEKHG3 Gene

PathCards logo

SuperPathways for PLEKHG3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
genes like me logo Genes that share ontologies with PLEKHG3: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHG3 Gene

Drugs & Compounds for PLEKHG3 Gene

No Compound Related Data Available

Transcripts for PLEKHG3 Gene

mRNA/cDNA for PLEKHG3 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG3 Gene

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

ExUns: 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PLEKHG3 Gene

GeneLoc Exon Structure for
PLEKHG3

Expression for PLEKHG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHG3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHG3 Gene

This gene is overexpressed in Placenta (22.9), Pancreas (15.5), Islet of Langerhans (13.5), and CD8 Tcells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHG3 Gene



Protein tissue co-expression partners for PLEKHG3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG3

SOURCE GeneReport for Unigene cluster for PLEKHG3 Gene:

Hs.509637

Evidence on tissue expression from TISSUES for PLEKHG3 Gene

  • Pancreas(4.2)
  • Spleen(4.2)
  • Nervous system(4.2)
  • Liver(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with PLEKHG3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG3 Gene

Orthologs for PLEKHG3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHG3 31 30
  • 92.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG3 31 30
  • 84.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHG3 31 30
  • 81.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhg3 30
  • 81.73 (n)
mouse
(Mus musculus)
Mammalia Plekhg3 17 31 30
  • 81.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PLEKHG3 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHG3 31
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHG3 31
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497371 30
  • 58.32 (n)
Str.10469 30
zebrafish
(Danio rerio)
Actinopterygii PLEKHG3 (2 of 2) 31
  • 64 (a)
OneToMany
LOC101886323 30
  • 53.98 (n)
PLEKHG3 (1 of 2) 31
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta GEFmeso 31
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea uig-1 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToMany
Species where no ortholog for PLEKHG3 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PLEKHG3 Gene

ENSEMBL:
Gene Tree for PLEKHG3 (if available)
TreeFam:
Gene Tree for PLEKHG3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHG3: view image

Paralogs for PLEKHG3 Gene

(3) SIMAP similar genes for PLEKHG3 Gene using alignment to 5 proteins:

  • PKHG3_HUMAN
  • G3V278_HUMAN
  • G3V2V2_HUMAN
  • G3V311_HUMAN
  • G3V3I3_HUMAN

Pseudogenes.org Pseudogenes for PLEKHG3 Gene

genes like me logo Genes that share paralogs with PLEKHG3: view

No data available for Paralogs for PLEKHG3 Gene

Variants for PLEKHG3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs1555364743 Uncertain Significance: Congenital hemolytic anemia 64,750,020(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs1555364746 Uncertain Significance: Congenital hemolytic anemia 64,750,051(+) G/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs57421986 Benign: not specified 64,749,402(+) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs229649 - p.Arg1036Trp
rs41309246 - p.Arg1014His

Additional dbSNP identifiers (rs#s) for PLEKHG3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG3 Gene

Variant ID Type Subtype PubMed ID
esv2748779 CNV deletion 23290073
nsv1035833 CNV gain 25217958
nsv1049097 CNV gain 25217958
nsv1309 CNV insertion 18451855
nsv952853 CNV deletion 24416366

Variation tolerance for PLEKHG3 Gene

Residual Variation Intolerance Score: 98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.02; 68.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHG3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG3 Gene

Disorders for PLEKHG3 Gene

Additional Disease Information for PLEKHG3

No disorders were found for PLEKHG3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHG3 Gene

Publications for PLEKHG3 Gene

  1. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 54
  2. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54

Products for PLEKHG3 Gene

Sources for PLEKHG3 Gene