Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PARD6A Gene

Aliases for PARD6A Gene

  • Par-6 Family Cell Polarity Regulator Alpha 2 3 5
  • Tax Interaction Protein 40 3 4
  • PAR-6 Alpha 3 4
  • PAR-6A 3 4
  • TIP-40 3 4
  • PAR6C 3 4
  • Par-6 (Partitioning Defective 6, C.Elegans) Homolog Alpha 2
  • Par-6 Partitioning Defective 6 Homolog Alpha (C. Elegans) 2
  • Par-6 Partitioning Defective 6 Homolog Alpha 3
  • Partitioning Defective 6 Homolog Alpha 3
  • Partitioning-Defective Protein 6 3
  • Tax-Interacting Protein 40 3
  • PAR6alpha 3
  • TAX40 3
  • PAR-6 4
  • PAR6A 4
  • PAR6 3

External Ids for PARD6A Gene

Previous GeneCards Identifiers for PARD6A Gene

  • GC16P058389
  • GC16P068072
  • GC16P067430
  • GC16P067471
  • GC16P066252
  • GC16P053567

Summaries for PARD6A Gene

Entrez Gene Summary for PARD6A Gene

  • This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for PARD6A Gene

PARD6A (Par-6 Family Cell Polarity Regulator Alpha) is a Protein Coding gene. Diseases associated with PARD6A include Dyskeratosis Congenita, Autosomal Dominant 6 and Dyskeratosis Congenita Autosomal Dominant. Among its related pathways are Signaling by Wnt and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include transcription factor binding and Rho GTPase binding. An important paralog of this gene is PARD6G.

UniProtKB/Swiss-Prot for PARD6A Gene

  • Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10873802). Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization (PubMed:20719959).

Gene Wiki entry for PARD6A Gene

Additional gene information for PARD6A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PARD6A Gene

Genomics for PARD6A Gene

GeneHancer (GH) Regulatory Elements for PARD6A Gene

Promoters and enhancers for PARD6A 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
GH16J067658 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.5 -506 2.9 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B E2F8 ACD PARD6A EDC4 CENPT CTCF E2F4 ENSG00000263276 DUS2 DPEP2 CARMIL2
GH16J068077 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +424.7 424735 16 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC NFATC3 GC16M068083 PRMT7 CTCF EDC4 ZDHHC1 DPEP2 DUS2 E2F4 SLC7A6OS
GH16J067479 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 -178.9 -178894 5 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ATP6V0D1 LOC101927837 ZDHHC1 ENKD1 NAE1 EDC4 CENPT CTCF SLC7A6OS E2F4
GH16J067992 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.2 +333.9 333933 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF213 E2F8 DPEP2 EDC4 PRMT7 ACD CENPT CTCF ENSG00000263276 E2F4 DDX28 KIAA0895L
GH16J067718 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.5 +58.4 58440 2.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 GFOD2 ENKD1 RANBP10 TSNAXIP1 PARD6A ACD TMEM208 EDC4 DUS2 PIR36768
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PARD6A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PARD6A gene promoter:
  • AML1a
  • Pax-5
  • GATA-1
  • Nkx2-5
  • STAT5A
  • AhR

Genomic Locations for PARD6A Gene

Genomic Locations for PARD6A Gene
chr16:67,660,946-67,662,778
(GRCh38/hg38)
Size:
1,833 bases
Orientation:
Plus strand
chr16:67,694,849-67,696,681
(GRCh37/hg19)
Size:
1,833 bases
Orientation:
Plus strand

Genomic View for PARD6A Gene

Genes around PARD6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PARD6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PARD6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PARD6A Gene

Proteins for PARD6A Gene

  • Protein details for PARD6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPB6-PAR6A_HUMAN
    Recommended name:
    Partitioning defective 6 homolog alpha
    Protein Accession:
    Q9NPB6
    Secondary Accessions:
    • O14911
    • Q9NPJ7

    Protein attributes for PARD6A Gene

    Size:
    346 amino acids
    Molecular mass:
    37388 Da
    Quaternary structure:
    • Interacts with MAP2K5 (By similarity). Interacts with PARD3. Interacts with GTP-bound forms of CDC42, ARHQ/TC10 and RAC1. Interacts with the N-terminal part of PRKCI and PRKCZ. Part of a complex with PARD3, CDC42 or RAC1 and PRKCI or PRKCZ. Part of a complex with LLGL1 and PRKCI (By similarity). Interacts with human T-cell leukemia virus type I TAX protein. Interacts with MPP5 and CRB3. Interacts with TGFBR1; involved in TGF-beta induced epithelial to mesenchymal transition. Interacts with ECT2 (Thr-359 phosphorylated form) and PRKCI. Interacts with DCTN1 and PCM1 (PubMed:20719959).

    Three dimensional structures from OCA and Proteopedia for PARD6A Gene

    Alternative splice isoforms for PARD6A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PARD6A Gene

Post-translational modifications for PARD6A Gene

Other Protein References for PARD6A Gene

No data available for DME Specific Peptides for PARD6A Gene

Domains & Families for PARD6A Gene

Gene Families for PARD6A Gene

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

Protein Domains for PARD6A Gene

Suggested Antigen Peptide Sequences for PARD6A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPB6

UniProtKB/Swiss-Prot:

PAR6A_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.
  • The PB1 domain mediates interactions with MAP2K5.
  • The PDZ domain mediates the interaction with CRB3.
Family:
  • Belongs to the PAR6 family.
genes like me logo Genes that share domains with PARD6A: view

Function for PARD6A Gene

Molecular function for PARD6A Gene

UniProtKB/Swiss-Prot Function:
Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10873802). Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization (PubMed:20719959).

Phenotypes From GWAS Catalog for PARD6A Gene

Gene Ontology (GO) - Molecular Function for PARD6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005080 protein kinase C binding IEA --
GO:0005515 protein binding IPI 10934474
GO:0008134 transcription factor binding TAS 9482110
GO:0017048 Rho GTPase binding IEA,ISS --
GO:0030742 GTP-dependent protein binding ISS,IEA --
genes like me logo Genes that share ontologies with PARD6A: view
genes like me logo Genes that share phenotypes with PARD6A: view

Animal Models for PARD6A Gene

MGI Knock Outs for PARD6A:
  • Pard6a Pard6a<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for PARD6A Gene

miRTarBase miRNAs that target PARD6A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PARD6A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PARD6A Gene

Localization for PARD6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARD6A Gene

Cytoplasm. Cell membrane. Cell projection, ruffle. Cell junction, tight junction. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with GTP-bound CDC42 or RAC1 at membrane ruffles and with PARD3 and PRKCI at epithelial tight junctions. Recruited to the centrosome by a microtubule and dynein-dynactin-dependent mechanism. {ECO:0000269 PubMed:20719959}.

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 PARD6A gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cell Junctions (3)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PARD6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005634 nucleus IEA,ISS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20719959
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with PARD6A: view

Pathways & Interactions for PARD6A Gene

genes like me logo Genes that share pathways with PARD6A: view

SIGNOR curated interactions for PARD6A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PARD6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0007049 cell cycle IEA --
GO:0007098 centrosome cycle IMP 20719959
GO:0007163 establishment or maintenance of cell polarity IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with PARD6A: view

Drugs & Compounds for PARD6A Gene

(3) Drugs for PARD6A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for PARD6A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PARD6A: view

Transcripts for PARD6A Gene

mRNA/cDNA for PARD6A Gene

Unigene Clusters for PARD6A Gene

Par-6 partitioning defective 6 homolog alpha (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PARD6A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PARD6A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d
SP1: - -
SP2: - -
SP3: -
SP4:

Relevant External Links for PARD6A Gene

GeneLoc Exon Structure for
PARD6A
ECgene alternative splicing isoforms for
PARD6A

Expression for PARD6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PARD6A Gene

mRNA differential expression in normal tissues according to GTEx for PARD6A Gene

This gene is overexpressed in Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for PARD6A Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PARD6A Gene



Protein tissue co-expression partners for PARD6A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PARD6A Gene:

PARD6A

SOURCE GeneReport for Unigene cluster for PARD6A Gene:

Hs.112933

mRNA Expression by UniProt/SwissProt for PARD6A Gene:

Q9NPB6-PAR6A_HUMAN
Tissue specificity: Expressed in pancreas, skeletal muscle, brain and heart. Weakly expressed in kidney and placenta.

Evidence on tissue expression from TISSUES for PARD6A Gene

  • Kidney(4.2)
  • Nervous system(4.2)
  • Blood(4)
  • Eye(4)
genes like me logo Genes that share expression patterns with PARD6A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PARD6A Gene

Orthologs for PARD6A Gene

This gene was present in the common ancestor of animals.

Orthologs for PARD6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PARD6A 34 33
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PARD6A 34 33
  • 91.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PARD6A 34 33
  • 91.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pard6a 16 34 33
  • 90.27 (n)
rat
(Rattus norvegicus)
Mammalia Pard6a 33
  • 89.28 (n)
oppossum
(Monodelphis domestica)
Mammalia PARD6A 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PARD6A 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves PARD6A 34 33
  • 68.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PARD6A 34
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pard6a 34 33
  • 65.99 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta par-6 34 35
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea par-6 34 35
  • 47 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7159 34
  • 40 (a)
OneToMany
Species where no ortholog for PARD6A 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PARD6A Gene

ENSEMBL:
Gene Tree for PARD6A (if available)
TreeFam:
Gene Tree for PARD6A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PARD6A: view image

Paralogs for PARD6A Gene

Paralogs for PARD6A Gene

(3) SIMAP similar genes for PARD6A Gene using alignment to 2 proteins:

  • PAR6A_HUMAN
  • R4GMM2_HUMAN
genes like me logo Genes that share paralogs with PARD6A: view

Variants for PARD6A Gene

Sequence variations from dbSNP and Humsavar for PARD6A Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs138527794 likely-benign, benign, not specified, Dyskeratosis congenita, autosomal dominant 6 67,660,013(+) G/A/C upstream_transcript_variant
rs142507451 benign, Dyskeratosis congenita, autosomal dominant 6 67,660,141(+) C/T upstream_transcript_variant
rs142662151 uncertain-significance, Dyskeratosis congenita, autosomal dominant 6 67,660,036(+) C/T upstream_transcript_variant
rs73597595 benign, Dyskeratosis congenita, autosomal dominant 6 67,660,317(+) G/A upstream_transcript_variant
rs797045144 pathogenic, Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7 67,659,786(+) CTTCT/CT upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PARD6A Gene

Variant ID Type Subtype PubMed ID
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv952046 CNV deletion 24416366

Variation tolerance for PARD6A Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.52; 44.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PARD6A Gene

Human Gene Mutation Database (HGMD)
PARD6A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PARD6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PARD6A Gene

Disorders for PARD6A Gene

MalaCards: The human disease database

(4) MalaCards diseases for PARD6A Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal dominant 6
  • dkca6
dyskeratosis congenita autosomal dominant
  • autosomal dominant dyskeratosis congenita
dyskeratosis congenita autosomal recessive
  • autosomal recessive dyskeratosis congenita
dyskeratosis congenita
  • zinsser-cole-engman syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PARD6A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PARD6A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PARD6A Gene

Publications for PARD6A 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 22 58
  2. Ect2 links the PKCiota-Par6alpha complex to Rac1 activation and cellular transformation. (PMID: 19617897) Justilien V … Fields AP (Oncogene 2009) 3 4 22 58
  3. Structure of a cell polarity regulator, a complex between atypical PKC and Par6 PB1 domains. (PMID: 15590654) Hirano Y … Inagaki F (The Journal of biological chemistry 2005) 3 4 22 58
  4. A novel functional polymorphism (-336A/G) in the promoter of the partitioning-defective protein-6alpha gene is associated with increased glucose tolerance and lower concentrations of serum non-esterified fatty acids. (PMID: 15744531) Weyrich P … Stefan N (Diabetologia 2005) 3 22 44 58
  5. 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 22 58

Products for PARD6A Gene

Sources for PARD6A Gene

Content
Loading form....