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PDZD8 (PDZ domain containing 8)

Identity

Alias (NCBI)PDZK8
HGNC (Hugo) PDZD8
HGNC Alias symbbA129M16.2
FLJ34427
HGNC Previous namePDZK8
LocusID (NCBI) 118987
Atlas_Id 71818
Location 10q25.3  [Link to chromosome band 10q25]
Location_base_pair Starts at 117277274 and ends at 117375440 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)
GRK5 (10q26.11) / PDZD8 (10q25.3)PDZD8 (10q25.3) / CHRNB1 (17p13.1)

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)PDZD8   26974
Cards
Entrez_Gene (NCBI)PDZD8    PDZ domain containing 8
AliasesPDZK8
GeneCards (Weizmann)PDZD8
Ensembl hg19 (Hinxton)ENSG00000165650 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165650 [Gene_View]  ENSG00000165650 [Sequence]  chr10:117277274-117375440 [Contig_View]  PDZD8 [Vega]
ICGC DataPortalENSG00000165650
TCGA cBioPortalPDZD8
AceView (NCBI)PDZD8
Genatlas (Paris)PDZD8
SOURCE (Princeton)PDZD8
Genetics Home Reference (NIH)PDZD8
Genomic and cartography
GoldenPath hg38 (UCSC)PDZD8  -     chr10:117277274-117375440 -  10q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDZD8  -     10q25.3   [Description]    (hg19-Feb_2009)
GoldenPathPDZD8 - 10q25.3 [CytoView hg19]  PDZD8 - 10q25.3 [CytoView hg38]
ImmunoBaseENSG00000165650
Genome Data Viewer NCBIPDZD8 [Mapview hg19]  
OMIM614235   
Gene and transcription
Genbank (Entrez)AF086138 AK058141 AK091746 AL122051 AY211924
RefSeq transcript (Entrez)NM_173791
Consensus coding sequences : CCDS (NCBI)PDZD8
Gene ExpressionPDZD8 [ NCBI-GEO ]   PDZD8 [ EBI - ARRAY_EXPRESS ]   PDZD8 [ SEEK ]   PDZD8 [ MEM ]
Gene Expression Viewer (FireBrowse)PDZD8 [ Firebrowse - Broad ]
GenevisibleExpression of PDZD8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)118987
GTEX Portal (Tissue expression)PDZD8
Human Protein AtlasENSG00000165650-PDZD8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEN9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEN9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEN9
PhosPhoSitePlusQ8NEN9
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    SMP (PS51847)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)PDZ    PDZ_6    PDZ_sf    PDZD8    PE/DAG-bd    SMP_LBD   
Domain families : Pfam (Sanger)C1_1 (PF00130)    PDZ_6 (PF17820)   
Domain families : Pfam (NCBI)pfam00130    pfam17820   
Domain families : Smart (EMBL)C1 (SM00109)  PDZ (SM00228)  
Conserved Domain (NCBI)PDZD8
SuperfamilyQ8NEN9
AlphaFold pdb e-kbQ8NEN9   
Human Protein Atlas [tissue]ENSG00000165650-PDZD8 [tissue]
HPRD11423
Protein Interaction databases
DIP (DOE-UCLA)Q8NEN9
IntAct (EBI)Q8NEN9
BioGRIDPDZD8
STRING (EMBL)PDZD8
ZODIACPDZD8
Ontologies - Pathways
QuickGOQ8NEN9
Ontology : AmiGOmitochondrion  endoplasmic reticulum membrane  lipid transport  cytoskeleton organization  lipid binding  membrane  integral component of membrane  regulation of cell morphogenesis  intracellular signal transduction  mitochondria-associated endoplasmic reticulum membrane  metal ion binding  mitochondrial calcium ion homeostasis  mitochondrion-endoplasmic reticulum membrane tethering  
Ontology : EGO-EBImitochondrion  endoplasmic reticulum membrane  lipid transport  cytoskeleton organization  lipid binding  membrane  integral component of membrane  regulation of cell morphogenesis  intracellular signal transduction  mitochondria-associated endoplasmic reticulum membrane  metal ion binding  mitochondrial calcium ion homeostasis  mitochondrion-endoplasmic reticulum membrane tethering  
NDEx NetworkPDZD8
Atlas of Cancer Signalling NetworkPDZD8
Wikipedia pathwaysPDZD8
Orthology - Evolution
OrthoDB118987
GeneTree (enSembl)ENSG00000165650
Phylogenetic Trees/Animal Genes : TreeFamPDZD8
Homologs : HomoloGenePDZD8
Homology/Alignments : Family Browser (UCSC)PDZD8
Gene fusions - Rearrangements
Fusion : QuiverPDZD8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDZD8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDZD8
dbVarPDZD8
ClinVarPDZD8
MonarchPDZD8
1000_GenomesPDZD8 
Exome Variant ServerPDZD8
GNOMAD BrowserENSG00000165650
Varsome BrowserPDZD8
ACMGPDZD8 variants
VarityQ8NEN9
Genomic Variants (DGV)PDZD8 [DGVbeta]
DECIPHERPDZD8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDZD8 
Mutations
ICGC Data PortalPDZD8 
TCGA Data PortalPDZD8 
Broad Tumor PortalPDZD8
OASIS PortalPDZD8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDZD8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPDZD8
Mutations and Diseases : HGMDPDZD8
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPDZD8
DgiDB (Drug Gene Interaction Database)PDZD8
DoCM (Curated mutations)PDZD8
CIViC (Clinical Interpretations of Variants in Cancer)PDZD8
Cancer3DPDZD8
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614235   
Orphanet
DisGeNETPDZD8
MedgenPDZD8
Genetic Testing Registry PDZD8
NextProtQ8NEN9 [Medical]
GENETestsPDZD8
Target ValidationPDZD8
Huge Navigator PDZD8 [HugePedia]
ClinGenPDZD8
Clinical trials, drugs, therapy
MyCancerGenomePDZD8
Protein Interactions : CTDPDZD8
Pharm GKB GenePA134916380
PharosQ8NEN9
Clinical trialPDZD8
Miscellaneous
canSAR (ICR)PDZD8
HarmonizomePDZD8
DataMed IndexPDZD8
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPDZD8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:15:52 CEST 2021

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