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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
  • 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

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. 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 ARHGEF28.

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.

Additional gene information for PLEKHG6 Gene

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

Genomics for PLEKHG6 Gene

GeneHancer (GH) Regulatory Elements for PLEKHG6 Gene

Promoters and enhancers for PLEKHG6 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
GH12J006307 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 606.9 +0.2 233 6.7 ZNF652 ELF3 CBFA2T2 ZNF687 AHR TFE3 RELA SP1 CREM MLLT1 PLEKHG6 TNFRSF1A VAMP1 TAPBPL CD27-AS1 CD9 RPL13P5
GH12J006331 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 +27.7 27702 12.7 CC2D1A ZNF652 ZFX SP1 ELF3 MNT CBFA2T2 ZNF148 NKRF POLR2A TNFRSF1A NCAPD2 ENSG00000219410 NOP2 ZNF384 ENSG00000247853 CHD4 ING4 SPSB2 VAMP1
GH12J006382 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.4 +73.7 73737 3.3 ZNF652 ZFX ELF3 CEBPG RERE GTF2F1 AHR MYC TFE3 TRIM24 LTBR TNFRSF1A PLEKHG6 TAPBPL CD27-AS1 IFFO1 ENSG00000256433 LOC105369628 SCNN1A
GH12J006359 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.7 +51.5 51453 5.4 ZNF652 ELF3 POLR2A MLLT1 AHR NCOA3 MAFK TFE3 ELF1 SP1 SCNN1A PLEKHG6 CD27-AS1 TAPBPL VAMP1 VWF LOC105369626 GC12P006346
GH12J006221 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -81.6 -81562 15.2 SP1 ELF3 MNT CEBPG ZNF687 AHR NCOA3 MYC TFE3 SP7 CD9 PLEKHG6 VWF LPAR5 PIANP TAPBPL VAMP1 SCNN1A IFFO1 GC12M006235
- 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 UCSC Golden Path with GeneCards custom track

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

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)

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI,IBA 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

Clone Products

  • Applied Biological Materials (abm): Clones for PLEKHG6 - Now 50% OFF >
  • * PLEKHG6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PLEKHG6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
cytoskeleton 4
plasma membrane 3
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Centrosome (1)
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,IBA --
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

Is activated by:

Gene Ontology (GO) - Biological Process for PLEKHG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
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) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PLEKHG6 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PLEKHG6 - Now 50% OFF >
  • * PLEKHG6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PLEKHG6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PLEKHG6 Gene:

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 35 34
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG6 35 34
  • 84.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhg6 17 35 34
  • 82.55 (n)
cow
(Bos Taurus)
Mammalia PLEKHG6 35 34
  • 81.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhg6 34
  • 81.18 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHG6 35
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42674 35
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhgf-2 35
  • 13 (a)
OneToMany
Species where no ortholog for PLEKHG6 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)
  • 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)
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 from dbSNP and Humsavar for PLEKHG6 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs115682467 likely-benign, Familial Periodic Fever 6,328,925(+) T/C downstream_transcript_variant
rs150426904 uncertain-significance, Familial Periodic Fever 6,328,918(+) T/A downstream_transcript_variant
rs200167144 uncertain-significance, Familial Periodic Fever 6,328,938(+) A/C downstream_transcript_variant
rs201099296 likely-benign, Familial Periodic Fever 6,328,962(+) AAAAAAAA/AAAAAAAAA downstream_transcript_variant
rs4149646 likely-benign, Familial Periodic Fever 6,328,979(+) C/T downstream_transcript_variant

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

Additional Disease Information for 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 (Molecular biology of the cell 2007) 2 3 4 58
  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 58
  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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Myosin II-interacting guanine nucleotide exchange factor promotes bleb retraction via stimulating cortex reassembly at the bleb membrane. (PMID: 29321250) Jiao M … Wei Q (Molecular biology of the cell 2018) 3 58

Products for PLEKHG6 Gene

Sources for PLEKHG6 Gene

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