Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PARD6A (par-6 family cell polarity regulator alpha)

Identity

Alias_namespar-6 (partitioning defective 6, C.elegans) homolog alpha
par-6 partitioning defective 6 homolog alpha (C. elegans)
Alias_symbol (synonym)PAR-6
PAR-6A
TAX40
PAR6alpha
TIP-40
Other aliasPAR6
PAR6C
HGNC (Hugo) PARD6A
LocusID (NCBI) 50855
Atlas_Id 51178
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67660948 and ends at 67662778 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CTCF (16q22.1) / PARD6A (16q22.1)PARD6A (16q22.1) / LOC100507412 (-)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(16)(q22q22) CTCF/PARD6A

External links

Nomenclature
HGNC (Hugo)PARD6A   15943
Cards
Entrez_Gene (NCBI)PARD6A  50855  par-6 family cell polarity regulator alpha
AliasesPAR-6A; PAR6; PAR6C; PAR6alpha; 
TAX40; TIP-40
GeneCards (Weizmann)PARD6A
Ensembl hg19 (Hinxton)ENSG00000102981 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102981 [Gene_View]  ENSG00000102981 [Sequence]  chr16:67660948-67662778 [Contig_View]  PARD6A [Vega]
ICGC DataPortalENSG00000102981
TCGA cBioPortalPARD6A
AceView (NCBI)PARD6A
Genatlas (Paris)PARD6A
WikiGenes50855
SOURCE (Princeton)PARD6A
Genetics Home Reference (NIH)PARD6A
Genomic and cartography
GoldenPath hg38 (UCSC)PARD6A  -     chr16:67660948-67662778 +  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PARD6A  -     16q22.1   [Description]    (hg19-Feb_2009)
GoldenPathPARD6A - 16q22.1 [CytoView hg19]  PARD6A - 16q22.1 [CytoView hg38]
ImmunoBaseENSG00000102981
Mapping of homologs : NCBIPARD6A [Mapview hg19]  PARD6A [Mapview hg38]
OMIM607484   
Gene and transcription
Genbank (Entrez)AB041642 AB043634 AF028827 AF252292 AF265565
RefSeq transcript (Entrez)NM_001037281 NM_016948
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PARD6A
Cluster EST : UnigeneHs.112933 [ NCBI ]
CGAP (NCI)Hs.112933
Alternative Splicing GalleryENSG00000102981
Gene ExpressionPARD6A [ NCBI-GEO ]   PARD6A [ EBI - ARRAY_EXPRESS ]   PARD6A [ SEEK ]   PARD6A [ MEM ]
Gene Expression Viewer (FireBrowse)PARD6A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50855
GTEX Portal (Tissue expression)PARD6A
Human Protein AtlasENSG00000102981-PARD6A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPB6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPB6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPB6
Splice isoforms : SwissVarQ9NPB6
PhosPhoSitePlusQ9NPB6
Domaine pattern : Prosite (Expaxy)PB1 (PS51745)    PDZ (PS50106)   
Domains : Interpro (EBI)PAR-6_a    PB1_dom    PB1_Par6    PDZ    PDZ_sf   
Domain families : Pfam (Sanger)PB1 (PF00564)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00564    pfam00595   
Domain families : Smart (EMBL)PB1 (SM00666)  PDZ (SM00228)  
Conserved Domain (NCBI)PARD6A
DMDM Disease mutations50855
Blocks (Seattle)PARD6A
PDB (RSDB)1WMH   
PDB Europe1WMH   
PDB (PDBSum)1WMH   
PDB (IMB)1WMH   
Structural Biology KnowledgeBase1WMH   
SCOP (Structural Classification of Proteins)1WMH   
CATH (Classification of proteins structures)1WMH   
SuperfamilyQ9NPB6
Human Protein Atlas [tissue]ENSG00000102981-PARD6A [tissue]
Peptide AtlasQ9NPB6
HPRD06316
IPIIPI00027217   IPI00295048   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPB6
IntAct (EBI)Q9NPB6
FunCoupENSG00000102981
BioGRIDPARD6A
STRING (EMBL)PARD6A
ZODIACPARD6A
Ontologies - Pathways
QuickGOQ9NPB6
Ontology : AmiGOruffle  negative regulation of protein phosphorylation  protein kinase C binding  protein binding  nucleus  nucleus  centrosome  cytosol  plasma membrane  bicellular tight junction  cell cortex  centrosome cycle  centrosome cycle  establishment or maintenance of cell polarity  transforming growth factor beta receptor signaling pathway  transcription factor binding  viral process  apical plasma membrane  Rho GTPase binding  Rho GTPase binding  GTP-dependent protein binding  centriolar satellite  cell-cell junction maintenance  positive regulation of protein secretion  cell division  Wnt signaling pathway, planar cell polarity pathway  regulation of cellular localization  bicellular tight junction assembly  positive regulation of protein localization to centrosome  
Ontology : EGO-EBIruffle  negative regulation of protein phosphorylation  protein kinase C binding  protein binding  nucleus  nucleus  centrosome  cytosol  plasma membrane  bicellular tight junction  cell cortex  centrosome cycle  centrosome cycle  establishment or maintenance of cell polarity  transforming growth factor beta receptor signaling pathway  transcription factor binding  viral process  apical plasma membrane  Rho GTPase binding  Rho GTPase binding  GTP-dependent protein binding  centriolar satellite  cell-cell junction maintenance  positive regulation of protein secretion  cell division  Wnt signaling pathway, planar cell polarity pathway  regulation of cellular localization  bicellular tight junction assembly  positive regulation of protein localization to centrosome  
Pathways : KEGGRap1 signaling pathway    Endocytosis    Hippo signaling pathway    Tight junction   
NDEx NetworkPARD6A
Atlas of Cancer Signalling NetworkPARD6A
Wikipedia pathwaysPARD6A
Orthology - Evolution
OrthoDB50855
GeneTree (enSembl)ENSG00000102981
Phylogenetic Trees/Animal Genes : TreeFamPARD6A
HOGENOMQ9NPB6
Homologs : HomoloGenePARD6A
Homology/Alignments : Family Browser (UCSC)PARD6A
Gene fusions - Rearrangements
Fusion : QuiverPARD6A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPARD6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PARD6A
dbVarPARD6A
ClinVarPARD6A
1000_GenomesPARD6A 
Exome Variant ServerPARD6A
ExAC (Exome Aggregation Consortium)ENSG00000102981
GNOMAD BrowserENSG00000102981
Varsome BrowserPARD6A
Genetic variants : HAPMAP50855
Genomic Variants (DGV)PARD6A [DGVbeta]
DECIPHERPARD6A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPARD6A 
Mutations
ICGC Data PortalPARD6A 
TCGA Data PortalPARD6A 
Broad Tumor PortalPARD6A
OASIS PortalPARD6A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPARD6A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPARD6A
Mutations and Diseases : HGMDPARD6A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PARD6A
DgiDB (Drug Gene Interaction Database)PARD6A
DoCM (Curated mutations)PARD6A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PARD6A (select a term)
intoGenPARD6A
Cancer3DPARD6A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607484   
Orphanet
DisGeNETPARD6A
MedgenPARD6A
Genetic Testing Registry PARD6A
NextProtQ9NPB6 [Medical]
TSGene50855
GENETestsPARD6A
Target ValidationPARD6A
Huge Navigator PARD6A [HugePedia]
snp3D : Map Gene to Disease50855
BioCentury BCIQPARD6A
ClinGenPARD6A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50855
Chemical/Pharm GKB GenePA32937
Clinical trialPARD6A
Miscellaneous
canSAR (ICR)PARD6A (select the gene name)
DataMed IndexPARD6A
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePARD6A
EVEXPARD6A
GoPubMedPARD6A
iHOPPARD6A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:59:44 CET 2019
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