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PDZD11 (PDZ domain containing 11)

Identity

Alias_namesPDZK11
Other aliasAIPP1
PISP
HGNC (Hugo) PDZD11
LocusID (NCBI) 51248
Atlas_Id 71814
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 70286361 and ends at 70289948 bp from pter ( according to hg38-Dec_2013)

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

 


External links

Nomenclature
HGNC (Hugo)PDZD11   28034
Cards
Entrez_Gene (NCBI)PDZD11  51248  PDZ domain containing 11
AliasesAIPP1; PDZK11; PISP
GeneCards (Weizmann)PDZD11
Ensembl hg19 (Hinxton)ENSG00000120509 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120509 [Gene_View]  chrX:70286361-70289948 [Contig_View]  PDZD11 [Vega]
ICGC DataPortalENSG00000120509
TCGA cBioPortalPDZD11
AceView (NCBI)PDZD11
Genatlas (Paris)PDZD11
WikiGenes51248
SOURCE (Princeton)PDZD11
Genetics Home Reference (NIH)PDZD11
Genomic and cartography
GoldenPath hg38 (UCSC)PDZD11  -     chrX:70286361-70289948 -  Xq13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDZD11  -     Xq13.1   [Description]    (hg19-Feb_2009)
EnsemblPDZD11 - Xq13.1 [CytoView hg19]  PDZD11 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIPDZD11 [Mapview hg19]  PDZD11 [Mapview hg38]
OMIM300632   
Gene and transcription
Genbank (Entrez)AF151061 AK024746 AK311539 AM393208 AY358829
RefSeq transcript (Entrez)NM_016484
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDZD11
Cluster EST : UnigeneHs.11042 [ NCBI ]
CGAP (NCI)Hs.11042
Alternative Splicing GalleryENSG00000120509
Gene ExpressionPDZD11 [ NCBI-GEO ]   PDZD11 [ EBI - ARRAY_EXPRESS ]   PDZD11 [ SEEK ]   PDZD11 [ MEM ]
Gene Expression Viewer (FireBrowse)PDZD11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51248
GTEX Portal (Tissue expression)PDZD11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5EBL8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5EBL8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5EBL8
Splice isoforms : SwissVarQ5EBL8
PhosPhoSitePlusQ5EBL8
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)PDZD11
DMDM Disease mutations51248
Blocks (Seattle)PDZD11
SuperfamilyQ5EBL8
Human Protein AtlasENSG00000120509
Peptide AtlasQ5EBL8
HPRD06622
IPIIPI00550841   IPI00641523   
Protein Interaction databases
DIP (DOE-UCLA)Q5EBL8
IntAct (EBI)Q5EBL8
FunCoupENSG00000120509
BioGRIDPDZD11
STRING (EMBL)PDZD11
ZODIACPDZD11
Ontologies - Pathways
QuickGOQ5EBL8
Ontology : AmiGOprotein binding  extracellular region  cytosol  cell-cell junction  biotin metabolic process  neurotransmitter secretion  pantothenate metabolic process  basolateral plasma membrane  antimicrobial humoral response  ion transmembrane transport  maintenance of epithelial cell apical/basal polarity  synapse  transmembrane transport  presynapse  protein localization to basolateral plasma membrane  
Ontology : EGO-EBIprotein binding  extracellular region  cytosol  cell-cell junction  biotin metabolic process  neurotransmitter secretion  pantothenate metabolic process  basolateral plasma membrane  antimicrobial humoral response  ion transmembrane transport  maintenance of epithelial cell apical/basal polarity  synapse  transmembrane transport  presynapse  protein localization to basolateral plasma membrane  
NDEx NetworkPDZD11
Atlas of Cancer Signalling NetworkPDZD11
Wikipedia pathwaysPDZD11
Orthology - Evolution
OrthoDB51248
GeneTree (enSembl)ENSG00000120509
Phylogenetic Trees/Animal Genes : TreeFamPDZD11
HOVERGENQ5EBL8
HOGENOMQ5EBL8
Homologs : HomoloGenePDZD11
Homology/Alignments : Family Browser (UCSC)PDZD11
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDZD11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDZD11
dbVarPDZD11
ClinVarPDZD11
1000_GenomesPDZD11 
Exome Variant ServerPDZD11
ExAC (Exome Aggregation Consortium)PDZD11 (select the gene name)
Genetic variants : HAPMAP51248
Genomic Variants (DGV)PDZD11 [DGVbeta]
DECIPHERPDZD11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDZD11 
Mutations
ICGC Data PortalPDZD11 
TCGA Data PortalPDZD11 
Broad Tumor PortalPDZD11
OASIS PortalPDZD11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDZD11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDZD11
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PDZD11
DgiDB (Drug Gene Interaction Database)PDZD11
DoCM (Curated mutations)PDZD11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDZD11 (select a term)
intoGenPDZD11
Cancer3DPDZD11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300632   
Orphanet
MedgenPDZD11
Genetic Testing Registry PDZD11
NextProtQ5EBL8 [Medical]
TSGene51248
GENETestsPDZD11
Target ValidationPDZD11
Huge Navigator PDZD11 [HugePedia]
snp3D : Map Gene to Disease51248
BioCentury BCIQPDZD11
ClinGenPDZD11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51248
Chemical/Pharm GKB GenePA134968632
Clinical trialPDZD11
Miscellaneous
canSAR (ICR)PDZD11 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDZD11
EVEXPDZD11
GoPubMedPDZD11
iHOPPDZD11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:17 CEST 2017

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