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
  • Pleckstrin Homology Domain-Containing Family G Member 6 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
  • Myosin-Interacting Guanine Nucleotide Exchange Factor 4
  • FLJ10665 2
  • PLEKHG6 5
  • MYOGEF 2

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. Diseases associated with PLEKHG6 include Joubert Syndrome 21. Among its related pathways are Regulation of RhoA activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF18.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for PLEKHG6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHG6 Gene

Genomics for PLEKHG6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHG6 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 PLEKHG6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG6

Top Transcription factor binding sites by QIAGEN in the PLEKHG6 gene promoter:
  • AP-1
  • Bach1
  • NRSF form 1
  • RFX1

Genomic Locations for PLEKHG6 Gene

Genomic Locations for PLEKHG6 Gene
chr12:6,310,436-6,328,506
(GRCh38/hg38)
Size:
18,071 bases
Orientation:
Plus strand
chr12:6,419,602-6,437,672
(GRCh37/hg19)
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

Post-translational modifications for PLEKHG6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:
  • DH domain
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHG6 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain containing, family G (With RhoGef domain) member 6, isoform CRA_a (D3DUR0_HUMAN)
  • Myosin-interacting guanine nucleotide exchange factor (PKHG6_HUMAN)
genes like me logo Genes that share domains with PLEKHG6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHG6 Gene

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.

Phenotypes From GWAS Catalog for PLEKHG6 Gene

Gene Ontology (GO) - Molecular Function for PLEKHG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 19129481
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG6

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
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 PLEKHG6 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 3
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Centrosome (2)
See all subcellular structures

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 --
GO:0005813 centrosome IDA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PLEKHG6: view

Pathways & Interactions for PLEKHG6 Gene

PathCards logo

SuperPathways for PLEKHG6 Gene

SuperPathway 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

Activates:
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

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG6

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

No ASD Table

Relevant External Links for PLEKHG6 Gene

GeneLoc Exon Structure for
PLEKHG6

Expression for PLEKHG6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for PLEKHG6 Gene



Protein tissue co-expression partners for PLEKHG6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG6

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

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG6 Gene

Orthologs for PLEKHG6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLEKHG6 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLEKHG6 30 31
  • 84.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plekhg6 30 17 31
  • 82.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHG6 30 31
  • 81.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekhg6 30
  • 81.18 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLEKHG6 31
  • 71 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG42674 31
  • 10 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rhgf-2 31
  • 13 (a)
OneToMany
Species where no ortholog for PLEKHG6 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)
  • 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHG6: view image

Paralogs for PLEKHG6 Gene

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

  • PKHG6_HUMAN
  • D3DUR0_HUMAN
  • F5H731_HUMAN
genes like me logo Genes that share paralogs with PLEKHG6: view

Variants for PLEKHG6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs740842 - p.Ala35Thr

Additional dbSNP identifiers (rs#s) for PLEKHG6 Gene

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

Variant ID Type Subtype PubMed ID
nsv832320 CNV loss 17160897
nsv952789 CNV deletion 24416366

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)

Additional Variant Information for PLEKHG6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHG6

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

Disorders for PLEKHG6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHG6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 21
  • jbts21
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PLEKHG6: view

No data available for 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 (Molecular biology of the cell 2007) 2 3 4
  2. A novel guanine nucleotide exchange factor MyoGEF is required for cytokinesis. (PMID: 16721066) Wu D … Wei Q (Cell cycle (Georgetown, Tex.) 2006) 2 3 4
  3. Centrosome/spindle pole-associated protein regulates cytokinesis via promoting the recruitment of MyoGEF to the central spindle. (PMID: 19129481) Asiedu M … Wei Q (Molecular biology of the cell 2009) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for PLEKHG6 Gene

  • Signalway Proteins for PLEKHG6

Sources for PLEKHG6 Gene