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PDZD2 (PDZ domain containing 2)

Identity

Alias_namesPDZK3
PDZ domain containing 3
Alias_symbol (synonym)KIAA0300
Other aliasAIPC
PAPIN
PIN1
HGNC (Hugo) PDZD2
LocusID (NCBI) 23037
Atlas_Id 41688
Location 5p13.3  [Link to chromosome band 5p13]
Location_base_pair Starts at 31639410 and ends at 32110932 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)
MEG3 (14q32.2) / PDZD2 (5p13.3)PDZD2 (5p13.3) / COL27A1 (9q32)PDZD2 (5p13.3) / MAP3K9 (14q24.2)
PDZD2 (5p13.3) / PDZD2 (5p13.3)PDZD2 5p13.3 / COL27A1 9q32

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;9)(p13;q32) PDZD2/COL27A1

External links

Nomenclature
HGNC (Hugo)PDZD2   18486
Cards
Entrez_Gene (NCBI)PDZD2  23037  PDZ domain containing 2
AliasesAIPC; PAPIN; PDZK3; PIN1
GeneCards (Weizmann)PDZD2
Ensembl hg19 (Hinxton)ENSG00000133401 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133401 [Gene_View]  ENSG00000133401 [Sequence]  chr5:31639410-32110932 [Contig_View]  PDZD2 [Vega]
ICGC DataPortalENSG00000133401
TCGA cBioPortalPDZD2
AceView (NCBI)PDZD2
Genatlas (Paris)PDZD2
WikiGenes23037
SOURCE (Princeton)PDZD2
Genetics Home Reference (NIH)PDZD2
Genomic and cartography
GoldenPath hg38 (UCSC)PDZD2  -     chr5:31639410-32110932 +  5p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDZD2  -     5p13.3   [Description]    (hg19-Feb_2009)
GoldenPathPDZD2 - 5p13.3 [CytoView hg19]  PDZD2 - 5p13.3 [CytoView hg38]
ImmunoBaseENSG00000133401
Mapping of homologs : NCBIPDZD2 [Mapview hg19]  PDZD2 [Mapview hg38]
OMIM610697   
Gene and transcription
Genbank (Entrez)AB002298 AF338650 AK021922 AK091490 AK128686
RefSeq transcript (Entrez)NM_015022 NM_178140
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDZD2
Alternative Splicing GalleryENSG00000133401
Gene ExpressionPDZD2 [ NCBI-GEO ]   PDZD2 [ EBI - ARRAY_EXPRESS ]   PDZD2 [ SEEK ]   PDZD2 [ MEM ]
Gene Expression Viewer (FireBrowse)PDZD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23037
GTEX Portal (Tissue expression)PDZD2
Human Protein AtlasENSG00000133401-PDZD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15018   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15018  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15018
Splice isoforms : SwissVarO15018
PhosPhoSitePlusO15018
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ    PDZ_sf   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)PDZD2
DMDM Disease mutations23037
Blocks (Seattle)PDZD2
SuperfamilyO15018
Human Protein Atlas [tissue]ENSG00000133401-PDZD2 [tissue]
Peptide AtlasO15018
HPRD10142
IPIIPI00745746   IPI00155647   IPI00984106   IPI00329826   IPI00967037   
Protein Interaction databases
DIP (DOE-UCLA)O15018
IntAct (EBI)O15018
FunCoupENSG00000133401
BioGRIDPDZD2
STRING (EMBL)PDZD2
ZODIACPDZD2
Ontologies - Pathways
QuickGOO15018
Ontology : AmiGOextracellular region  nucleus  cytoplasm  endoplasmic reticulum  cell-cell junction  cell adhesion  
Ontology : EGO-EBIextracellular region  nucleus  cytoplasm  endoplasmic reticulum  cell-cell junction  cell adhesion  
NDEx NetworkPDZD2
Atlas of Cancer Signalling NetworkPDZD2
Wikipedia pathwaysPDZD2
Orthology - Evolution
OrthoDB23037
GeneTree (enSembl)ENSG00000133401
Phylogenetic Trees/Animal Genes : TreeFamPDZD2
HOGENOMO15018
Homologs : HomoloGenePDZD2
Homology/Alignments : Family Browser (UCSC)PDZD2
Gene fusions - Rearrangements
Fusion : MitelmanPDZD2/COL27A1 [5p13.3/9q32]  
Fusion PortalPDZD2 5p13.3 COL27A1 9q32 LUAD
Fusion : QuiverPDZD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDZD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDZD2
dbVarPDZD2
ClinVarPDZD2
1000_GenomesPDZD2 
Exome Variant ServerPDZD2
ExAC (Exome Aggregation Consortium)ENSG00000133401
GNOMAD BrowserENSG00000133401
Varsome BrowserPDZD2
Genetic variants : HAPMAP23037
Genomic Variants (DGV)PDZD2 [DGVbeta]
DECIPHERPDZD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDZD2 
Mutations
ICGC Data PortalPDZD2 
TCGA Data PortalPDZD2 
Broad Tumor PortalPDZD2
OASIS PortalPDZD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDZD2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPDZD2
Mutations and Diseases : HGMDPDZD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PDZD2
DgiDB (Drug Gene Interaction Database)PDZD2
DoCM (Curated mutations)PDZD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDZD2 (select a term)
intoGenPDZD2
Cancer3DPDZD2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610697   
Orphanet
DisGeNETPDZD2
MedgenPDZD2
Genetic Testing Registry PDZD2
NextProtO15018 [Medical]
TSGene23037
GENETestsPDZD2
Target ValidationPDZD2
Huge Navigator PDZD2 [HugePedia]
snp3D : Map Gene to Disease23037
BioCentury BCIQPDZD2
ClinGenPDZD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23037
Chemical/Pharm GKB GenePA33164
Clinical trialPDZD2
Miscellaneous
canSAR (ICR)PDZD2 (select the gene name)
HarmonizomePDZD2
DataMed IndexPDZD2
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDZD2
EVEXPDZD2
GoPubMedPDZD2
iHOPPDZD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 10 12:27:32 CEST 2020
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