Aliases for PARD6G Gene

Aliases for PARD6G Gene

  • Par-6 Family Cell Polarity Regulator Gamma 2 3 5
  • Partitioning Defective 6 Homolog Gamma 3 4
  • PAR6gamma 2 3
  • PAR-6G 2 3
  • PAR6D 3 4
  • Par-6 (Partitioning Defective 6, C.Elegans) Homolog Gamma 2
  • Par-6 Partitioning Defective 6 Homolog Gamma (C. Elegans) 2
  • Par-6 Partitioning Defective 6 Homolog Gamma 3
  • PAR-6 Gamma Protein 3
  • PAR-6 Gamma 4
  • PARD6G 5
  • PAR6G 4

External Ids for PARD6G Gene

Previous GeneCards Identifiers for PARD6G Gene

  • GC18M077432
  • GC18M077971
  • GC18M077652
  • GC18M076016
  • GC18M076014
  • GC18M075999
  • GC18M077915
  • GC18M074536

Summaries for PARD6G Gene

GeneCards Summary for PARD6G Gene

PARD6G (Par-6 Family Cell Polarity Regulator Gamma) is a Protein Coding gene. Diseases associated with PARD6G include Myoclonic Epilepsy Associated With Ragged-Red Fibers. Among its related pathways are G-protein signaling RAC1 in cellular process and Ras signaling pathway. An important paralog of this gene is PARD6B.

UniProtKB/Swiss-Prot Summary for PARD6G Gene

  • Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (By similarity).

Additional gene information for PARD6G Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PARD6G Gene

Genomics for PARD6G Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PARD6G 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
GH18J080246 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 603.9 +0.6 614 3 PRDM10 RBFOX2 CTCF ZNF341 ZFX POLR2A KLF9 SP2 ZBTB26 ZFHX2 PARD6G RBFADN ENSG00000267127 piR-30835 ADNP2
GH18J079392 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +847.3 847348 14.4 SP1 PRDM10 ZNF629 RFX1 KDM1A POLR2A BACH1 LARP7 ZIC2 PATZ1 NFATC1 CTDP1 LOC107985163 MN297545 lnc-PQLC1-16 ATP9B ADNP2 RBFA PARD6G ENSG00000267287
GH18J080178 Enhancer 1.1 FANTOM5 Ensembl ENCODE 5.8 +67.1 67114 4.4 TCF12 IKZF2 DPF2 CEBPB GATAD2B ESRRA ZFHX2 IKZF1 CTCF BATF RBFADN ENSG00000267251 ENSG00000267127 PARD6G CTDP1 piR-31109-002 PARD6G-AS1 ADNP2
GH18J080174 Enhancer 0.6 ENCODE CraniofacialAtlas 5.4 +71.5 71546 2 FOXA1 ZIC2 BHLHE40 MLLT1 RBFADN ENSG00000267251 PARD6G piR-31109-002 PARD6G-AS1 ADNP2
GH18J080129 Enhancer 0.3 Ensembl 5.8 +117.1 117113 2.4 SCRT2 RBFADN PARD6G-AS1 ENSG00000267251 ENSG00000267127 TXNL4A PARD6G ADNP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PARD6G on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PARD6G

Top Transcription factor binding sites by QIAGEN in the PARD6G gene promoter:
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Brachyury
  • CREB
  • E47
  • Hand1
  • Nkx5-1
  • p53
  • POU3F2

Genomic Locations for PARD6G Gene

Genomic Locations for PARD6G Gene
chr18:80,157,232-80,247,514
(GRCh38/hg38)
Size:
90,283 bases
Orientation:
Minus strand
chr18:77,915,115-78,005,429
(GRCh37/hg19)
Size:
90,315 bases
Orientation:
Minus strand

Genomic View for PARD6G Gene

Genes around PARD6G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PARD6G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PARD6G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PARD6G Gene

Proteins for PARD6G Gene

  • Protein details for PARD6G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYG4-PAR6G_HUMAN
    Recommended name:
    Partitioning defective 6 homolog gamma
    Protein Accession:
    Q9BYG4
    Secondary Accessions:
    • A8QM57

    Protein attributes for PARD6G Gene

    Size:
    376 amino acids
    Molecular mass:
    40883 Da
    Quaternary structure:
    • Interacts with PARD3 (Probable). Interacts with GTP-bound forms of CDC42, ARHQ/TC10 and RAC1. Interacts with the N-terminal part of PRKCI and PRKCZ.

    Alternative splice isoforms for PARD6G Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PARD6G Gene

Post-translational modifications for PARD6G Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PARD6G Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PARD6G Gene

Domains & Families for PARD6G Gene

Gene Families for PARD6G Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PARD6G Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • Octicosapeptide/Phox/Bem1p
ProtoNet:

Suggested Antigen Peptide Sequences for PARD6G Gene

GenScript: Design optimal peptide antigens:
  • Par6 gamma short form 1 (A8QM56_HUMAN)
  • Par6 gamma short form 2 (A8QM57_HUMAN)
  • PAR6D (PAR6G_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYG4

UniProtKB/Swiss-Prot:

PAR6G_HUMAN :
  • The pseudo-CRIB domain together with the PDZ domain is required for the interaction with Rho small GTPases.
  • Belongs to the PAR6 family.
Domain:
  • The pseudo-CRIB domain together with the PDZ domain is required for the interaction with Rho small GTPases.
Family:
  • Belongs to the PAR6 family.
genes like me logo Genes that share domains with PARD6G: view

Function for PARD6G Gene

Molecular function for PARD6G Gene

UniProtKB/Swiss-Prot Function:
Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (By similarity).

Phenotypes From GWAS Catalog for PARD6G Gene

Gene Ontology (GO) - Molecular Function for PARD6G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005080 protein kinase C binding IBA 21873635
GO:0005515 protein binding IEA,IPI 11260256
GO:0017048 Rho GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with PARD6G: view
genes like me logo Genes that share phenotypes with PARD6G: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PARD6G

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PARD6G Gene

Localization for PARD6G Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARD6G Gene

Cytoplasm. Cell membrane. Cell junction, tight junction.

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 PARD6G gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PARD6G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with PARD6G: view

Pathways & Interactions for PARD6G Gene

PathCards logo

SuperPathways for PARD6G Gene

SuperPathway Contained pathways
1 Cell junction organization
2 G-protein signaling RAC1 in cellular process
.37
.37
3 Axon guidance
4 Endocytosis
5 Hippo signaling pathway
genes like me logo Genes that share pathways with PARD6G: view

Pathways by source for PARD6G Gene

3 GeneGo (Thomson Reuters) pathways for PARD6G Gene
  • Cytoskeleton remodeling CDC42 in cellular processes
  • Development A2A receptor signaling
  • G-protein signaling RAC1 in cellular process

Gene Ontology (GO) - Biological Process for PARD6G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007098 centrosome cycle IBA 21873635
GO:0007163 establishment or maintenance of cell polarity IEA,IBA 21873635
GO:0051301 cell division IEA --
GO:0060341 regulation of cellular localization IBA 21873635
genes like me logo Genes that share ontologies with PARD6G: view

No data available for SIGNOR curated interactions for PARD6G Gene

Drugs & Compounds for PARD6G Gene

(1) Drugs for PARD6G Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PARD6G: view

Transcripts for PARD6G Gene

mRNA/cDNA for PARD6G Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 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 PARD6G

Alternative Splicing Database (ASD) splice patterns (SP) for PARD6G Gene

No ASD Table

Relevant External Links for PARD6G Gene

GeneLoc Exon Structure for
PARD6G

Expression for PARD6G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PARD6G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PARD6G Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x6.2) and Skin - Not Sun Exposed (Suprapubic) (x5.7).

Protein differential expression in normal tissues from HIPED for PARD6G Gene

This gene is overexpressed in Adipocyte (39.4) and Heart (29.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PARD6G Gene



Protein tissue co-expression partners for PARD6G Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PARD6G

SOURCE GeneReport for Unigene cluster for PARD6G Gene:

Hs.654920

mRNA Expression by UniProt/SwissProt for PARD6G Gene:

Q9BYG4-PAR6G_HUMAN
Tissue specificity: Widely expressed, with a higher expression in fetal and adult kidney.

Evidence on tissue expression from TISSUES for PARD6G Gene

  • Nervous system(3.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with PARD6G: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PARD6G Gene

Orthologs for PARD6G Gene

This gene was present in the common ancestor of animals.

Orthologs for PARD6G Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PARD6G 30 31
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PARD6G 30 31
  • 82.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PARD6G 30 31
  • 80.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pard6g 30
  • 79.41 (n)
Mouse
(Mus musculus)
Mammalia Pard6g 30 17 31
  • 77.9 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PARD6G 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PARD6G 30 31
  • 68.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PARD6G 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pard6g 30
  • 64.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1701 30
Zebrafish
(Danio rerio)
Actinopterygii pard6gb 30 31
  • 66.49 (n)
OneToMany
pard6ga 31
  • 42 (a)
OneToMany
Dr.27686 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010494 30
  • 60.92 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta par-6 30 31 32
  • 60.22 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea par-6 30 31 32
  • 53.65 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7159 31
  • 40 (a)
OneToMany
Species where no ortholog for PARD6G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 PARD6G Gene

ENSEMBL:
Gene Tree for PARD6G (if available)
TreeFam:
Gene Tree for PARD6G (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PARD6G: view image

Paralogs for PARD6G Gene

Paralogs for PARD6G Gene

(3) SIMAP similar genes for PARD6G Gene using alignment to 4 proteins:

  • PAR6G_HUMAN
  • A8QM56_HUMAN
  • K7ELH1_HUMAN
  • L8EAJ7_HUMAN
genes like me logo Genes that share paralogs with PARD6G: view

Variants for PARD6G Gene

Additional dbSNP identifiers (rs#s) for PARD6G Gene

Structural Variations from Database of Genomic Variants (DGV) for PARD6G Gene

Variant ID Type Subtype PubMed ID
dgv3413n100 CNV gain 25217958
dgv3414n100 CNV gain 25217958
dgv3415n100 CNV gain 25217958
dgv3416n100 CNV gain 25217958
dgv3417n100 CNV loss 25217958
dgv3418n100 CNV gain 25217958
dgv649e214 CNV loss 21293372
esv2661105 CNV deletion 23128226
esv2663498 CNV deletion 23128226
esv2676946 CNV deletion 23128226
esv2678187 CNV deletion 23128226
esv2763194 CNV gain 21179565
esv3410531 CNV duplication 20981092
esv3434904 CNV duplication 20981092
esv3443388 CNV duplication 20981092
esv3574208 CNV gain 25503493
esv3643330 CNV loss 21293372
esv3643331 CNV gain 21293372
esv3643332 CNV loss 21293372
esv3643333 CNV gain 21293372
esv3643335 CNV loss 21293372
esv3643336 CNV loss 21293372
esv3643337 CNV loss 21293372
nsv1062516 CNV gain 25217958
nsv1065653 CNV gain+loss 25217958
nsv1065902 CNV gain 25217958
nsv1145787 CNV deletion 26484159
nsv1151423 CNV deletion 26484159
nsv1160552 CNV duplication 26073780
nsv428359 CNV gain 18775914
nsv458317 CNV gain 19166990
nsv507886 OTHER sequence alteration 20534489
nsv577970 CNV gain 21841781
nsv577971 CNV loss 21841781
nsv953932 CNV deletion 24416366

Variation tolerance for PARD6G Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PARD6G Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PARD6G

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PARD6G Gene

Disorders for PARD6G Gene

MalaCards: The human disease database

(1) MalaCards diseases for PARD6G Gene - From: DISEASES

Disorder Aliases PubMed IDs
myoclonic epilepsy associated with ragged-red fibers
  • merrf
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PARD6G

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PARD6G: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PARD6G Gene

Publications for PARD6G Gene

  1. Human homologues of the Caenorhabditis elegans cell polarity protein PAR6 as an adaptor that links the small GTPases Rac and Cdc42 to atypical protein kinase C. (PMID: 11260256) Noda Y … Sumimoto H (Genes to cells : devoted to molecular & cellular mechanisms 2001) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The cell-polarity protein Par6 links Par3 and atypical protein kinase C to Cdc42. (PMID: 10934474) Joberty G … Macara IG (Nature cell biology 2000) 3 4
  5. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3

Products for PARD6G Gene

Sources for PARD6G Gene