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Aliases for PLEKHG6 Gene

Aliases for PLEKHG6 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G6 2 3 5
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 6 2 3
  • Myosin-Interacting Guanine Nucleotide Exchange Factor 3 4
  • PH Domain-Containing Family G Member 6 3 4
  • Myosin II Interacting GEF 2 3
  • MyoGEF 3 4
  • Myosin Interacting Guanine Nucleotide Exchange Factor 3

External Ids for PLEKHG6 Gene

Previous GeneCards Identifiers for PLEKHG6 Gene

  • GC12P006290
  • GC12P006419

Summaries for PLEKHG6 Gene

GeneCards Summary for PLEKHG6 Gene

PLEKHG6 (Pleckstrin Homology And RhoGEF Domain Containing G6) is a Protein Coding gene. Among its related pathways are Regulation of RhoA activity. GO annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG5.

UniProtKB/Swiss-Prot for PLEKHG6 Gene

  • Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHG6 Gene

Genomics for PLEKHG6 Gene

Regulatory Elements for PLEKHG6 Gene

Promoters for PLEKHG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLEKHG6 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLEKHG6 Gene

Chromosome:
12
Start:
6,310,436 bp from pter
End:
6,328,506 bp from pter
Size:
18,071 bases
Orientation:
Plus strand

Genomic View for PLEKHG6 Gene

Genes around PLEKHG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG6 Gene

Proteins for PLEKHG6 Gene

  • Protein details for PLEKHG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3KR16-PKHG6_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family G member 6
    Protein Accession:
    Q3KR16
    Secondary Accessions:
    • Q3SWR1
    • Q8N1P1
    • Q8WYY1
    • Q9H8F4
    • Q9NVK9

    Protein attributes for PLEKHG6 Gene

    Size:
    790 amino acids
    Molecular mass:
    88960 Da
    Quaternary structure:
    • Interacts with MYH10. Interacts with ELMO1 and EZR (in an open conformation). Interacts with CSPP1.

    Alternative splice isoforms for PLEKHG6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHG6 Gene

Proteomics data for PLEKHG6 Gene at MOPED

Post-translational modifications for PLEKHG6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHG6 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for PLEKHG6

No data available for DME Specific Peptides for PLEKHG6 Gene

Domains & Families for PLEKHG6 Gene

Gene Families for PLEKHG6 Gene

Protein Domains for PLEKHG6 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q3KR16

UniProtKB/Swiss-Prot:

PKHG6_HUMAN :
  • Contains 1 DH (DBL-homology) domain.
Domain:
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with PLEKHG6: view

Function for PLEKHG6 Gene

Molecular function for PLEKHG6 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis.

Gene Ontology (GO) - Molecular Function for PLEKHG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with PLEKHG6: view
genes like me logo Genes that share phenotypes with PLEKHG6: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PLEKHG6 Gene

Localization for PLEKHG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHG6 Gene

Cell projection, microvillus. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Cleavage furrow. Note=During mitosis, localizes to the spindle pole, central spindle and cleavage furrow (PubMed:16721066). In epithelial cells, recruited to the apical membrane by EZR where it participates in macropinocytosis (PubMed:17881735). {ECO:0000269 PubMed:16721066, ECO:0000269 PubMed:17881735}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHG6 Gene COMPARTMENTS Subcellular localization image for PLEKHG6 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for PLEKHG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PLEKHG6: view

Pathways & Interactions for PLEKHG6 Gene

SuperPathways for PLEKHG6 Gene

Superpath Contained pathways
1 Regulation of RhoA activity
genes like me logo Genes that share pathways with PLEKHG6: view

Pathways by source for PLEKHG6 Gene

1 BioSystems pathway for PLEKHG6 Gene

SIGNOR curated interactions for PLEKHG6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLEKHG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with PLEKHG6: view

Drugs & Compounds for PLEKHG6 Gene

(3) Drugs for PLEKHG6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PLEKHG6: view

Transcripts for PLEKHG6 Gene

mRNA/cDNA for PLEKHG6 Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PLEKHG6 Gene

Pleckstrin homology domain containing, family G (with RhoGef domain) member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG6 Gene

No ASD Table

Relevant External Links for PLEKHG6 Gene

GeneLoc Exon Structure for
PLEKHG6
ECgene alternative splicing isoforms for
PLEKHG6

Expression for PLEKHG6 Gene

mRNA expression in normal human tissues for PLEKHG6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHG6 Gene

This gene is overexpressed in Colon - Transverse (x9.3), Esophagus - Mucosa (x6.7), and Small Intestine - Terminal Ileum (x4.4).

Protein differential expression in normal tissues from HIPED for PLEKHG6 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLEKHG6 Gene



SOURCE GeneReport for Unigene cluster for PLEKHG6 Gene Hs.631660

mRNA Expression by UniProt/SwissProt for PLEKHG6 Gene

Q3KR16-PKHG6_HUMAN
Tissue specificity: Highest expression in the placenta. Low levels in small intestine, lung, liver, kidney, thymus and heart.
genes like me logo Genes that share expression patterns with PLEKHG6: view

Protein tissue co-expression partners for PLEKHG6 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PLEKHG6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PLEKHG6 35
  • 81.81 (n)
  • 77.48 (a)
PLEKHG6 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG6 35
  • 84.62 (n)
  • 80.86 (a)
PLEKHG6 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhg6 35
  • 82.55 (n)
  • 82.25 (a)
Plekhg6 16
Plekhg6 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLEKHG6 35
  • 99.37 (n)
  • 99.62 (a)
PLEKHG6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhg6 35
  • 81.18 (n)
  • 80.41 (a)
oppossum
(Monodelphis domestica)
Mammalia PLEKHG6 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42674 36
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhgf-2 36
  • 13 (a)
OneToMany
Species with no ortholog for PLEKHG6:
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for PLEKHG6 Gene

ENSEMBL:
Gene Tree for PLEKHG6 (if available)
TreeFam:
Gene Tree for PLEKHG6 (if available)

Paralogs for PLEKHG6 Gene

Paralogs for PLEKHG6 Gene

(1) SIMAP similar genes for PLEKHG6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PLEKHG6: view

Variants for PLEKHG6 Gene

Sequence variations from dbSNP and Humsavar for PLEKHG6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs740842 - 6,312,329(-) GCCAG(C/T)AGTGC nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, missense
rs740841 -- 6,324,123(+) CTTTT(C/T)CTTTC intron-variant
rs749927 -- 6,311,239(-) CCCCC(C/G/T)TAAAC intron-variant, upstream-variant-2KB
rs749928 -- 6,311,130(-) CGACC(A/G)GGTGG intron-variant, upstream-variant-2KB
rs749929 -- 6,310,980(-) GTCCT(G/T)TCTCA intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG6 Gene

Variant ID Type Subtype PubMed ID
nsv832320 CNV Loss 17160897

Variation tolerance for PLEKHG6 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.40; 71.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHG6 Gene

HapMap Linkage Disequilibrium report
PLEKHG6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG6 Gene

Disorders for PLEKHG6 Gene

Relevant External Links for PLEKHG6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHG6

No disorders were found for PLEKHG6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHG6 Gene

Publications for PLEKHG6 Gene

  1. Interaction of ezrin with the novel guanine nucleotide exchange factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton rearrangements in epithelial cells. (PMID: 17881735) D'Angelo R. … Arpin M. (Mol. Biol. Cell 2007) 2 3 4 67
  2. A novel guanine nucleotide exchange factor MyoGEF is required for cytokinesis. (PMID: 16721066) Wu D. … Wei Q. (Cell Cycle 2006) 2 3
  3. Phosphorylation of myosin II-interacting guanine nucleotide exchange factor (MyoGEF) at threonine 544 by aurora B kinase promotes the binding of polo-like kinase 1 to MyoGEF. (PMID: 24482237) Wu D. … Wei Q. (J. Biol. Chem. 2014) 3
  4. Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. (PMID: 24836286) Zhang B. … Zheng W. (Nat. Genet. 2014) 3
  5. Intramolecular interactions between the Dbl homology (DH) domain and the carboxyl-terminal region of myosin II-interacting guanine nucleotide exchange factor (MyoGEF) act as an autoinhibitory mechanism for the regulation of MyoGEF functions. (PMID: 25336641) Wu D. … Wei Q. (J. Biol. Chem. 2014) 3

Products for PLEKHG6 Gene

Sources for PLEKHG6 Gene

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