Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel)

Identity

Alias_namesPKD2L
PKDL
polycystic kidney disease 2-like 1
Alias_symbol (synonym)PCL
TRPP3
Other alias
HGNC (Hugo) PKD2L1
LocusID (NCBI) 9033
Atlas_Id 71940
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100288146 and ends at 100330486 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)

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)PKD2L1   9011
Cards
Entrez_Gene (NCBI)PKD2L1  9033  polycystin 2 like 1, transient receptor potential cation channel
AliasesPCL; PKD2L; PKDL; TRPP3
GeneCards (Weizmann)PKD2L1
Ensembl hg19 (Hinxton)ENSG00000107593 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107593 [Gene_View]  chr10:100288146-100330486 [Contig_View]  PKD2L1 [Vega]
ICGC DataPortalENSG00000107593
TCGA cBioPortalPKD2L1
AceView (NCBI)PKD2L1
Genatlas (Paris)PKD2L1
WikiGenes9033
SOURCE (Princeton)PKD2L1
Genetics Home Reference (NIH)PKD2L1
Genomic and cartography
GoldenPath hg38 (UCSC)PKD2L1  -     chr10:100288146-100330486 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKD2L1  -     10q24.31   [Description]    (hg19-Feb_2009)
EnsemblPKD2L1 - 10q24.31 [CytoView hg19]  PKD2L1 - 10q24.31 [CytoView hg38]
Mapping of homologs : NCBIPKD2L1 [Mapview hg19]  PKD2L1 [Mapview hg38]
OMIM604532   
Gene and transcription
Genbank (Entrez)AF053316 AF073481 AF092170 AF094827 BC025665
RefSeq transcript (Entrez)NM_001253837 NM_016112
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKD2L1
Cluster EST : UnigeneHs.159241 [ NCBI ]
CGAP (NCI)Hs.159241
Alternative Splicing GalleryENSG00000107593
Gene ExpressionPKD2L1 [ NCBI-GEO ]   PKD2L1 [ EBI - ARRAY_EXPRESS ]   PKD2L1 [ SEEK ]   PKD2L1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKD2L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9033
GTEX Portal (Tissue expression)PKD2L1
Human Protein AtlasENSG00000107593-PKD2L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0L9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0L9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0L9
Splice isoforms : SwissVarQ9P0L9
PhosPhoSitePlusQ9P0L9
Domains : Interpro (EBI)EF-hand-dom_pair    PKD1_2_channel    PKD_2   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
Conserved Domain (NCBI)PKD2L1
DMDM Disease mutations9033
Blocks (Seattle)PKD2L1
PDB (SRS)3TE3    4GIF   
PDB (PDBSum)3TE3    4GIF   
PDB (IMB)3TE3    4GIF   
PDB (RSDB)3TE3    4GIF   
Structural Biology KnowledgeBase3TE3    4GIF   
SCOP (Structural Classification of Proteins)3TE3    4GIF   
CATH (Classification of proteins structures)3TE3    4GIF   
SuperfamilyQ9P0L9
Human Protein Atlas [tissue]ENSG00000107593-PKD2L1 [tissue]
Peptide AtlasQ9P0L9
HPRD16063
IPIIPI00103744   IPI00219270   IPI00219271   IPI00219272   IPI01013078   IPI00383867   IPI00981931   IPI00978178   IPI00982500   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0L9
IntAct (EBI)Q9P0L9
FunCoupENSG00000107593
BioGRIDPKD2L1
STRING (EMBL)PKD2L1
ZODIACPKD2L1
Ontologies - Pathways
QuickGOQ9P0L9
Ontology : AmiGOdetection of chemical stimulus involved in sensory perception of sour taste  calcium activated cation channel activity  cation channel activity  calcium channel activity  sodium channel activity  calcium ion binding  calcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  cation transport  smoothened signaling pathway  cytoskeletal protein binding  cation transmembrane transporter activity  cell surface  calcium-activated potassium channel activity  membrane  integral component of membrane  sour taste receptor activity  calcium channel complex  sodium ion transmembrane transport  identical protein binding  intracellular membrane-bounded organelle  receptor complex  sensory perception of sour taste  detection of mechanical stimulus  muscle alpha-actinin binding  alpha-actinin binding  ciliary membrane  protein homotrimerization  calcium ion transmembrane transport  cellular response to acidic pH  potassium ion transmembrane transport  non-motile cilium  
Ontology : EGO-EBIdetection of chemical stimulus involved in sensory perception of sour taste  calcium activated cation channel activity  cation channel activity  calcium channel activity  sodium channel activity  calcium ion binding  calcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  cation transport  smoothened signaling pathway  cytoskeletal protein binding  cation transmembrane transporter activity  cell surface  calcium-activated potassium channel activity  membrane  integral component of membrane  sour taste receptor activity  calcium channel complex  sodium ion transmembrane transport  identical protein binding  intracellular membrane-bounded organelle  receptor complex  sensory perception of sour taste  detection of mechanical stimulus  muscle alpha-actinin binding  alpha-actinin binding  ciliary membrane  protein homotrimerization  calcium ion transmembrane transport  cellular response to acidic pH  potassium ion transmembrane transport  non-motile cilium  
NDEx NetworkPKD2L1
Atlas of Cancer Signalling NetworkPKD2L1
Wikipedia pathwaysPKD2L1
Orthology - Evolution
OrthoDB9033
GeneTree (enSembl)ENSG00000107593
Phylogenetic Trees/Animal Genes : TreeFamPKD2L1
HOVERGENQ9P0L9
HOGENOMQ9P0L9
Homologs : HomoloGenePKD2L1
Homology/Alignments : Family Browser (UCSC)PKD2L1
Gene fusions - Rearrangements
Tumor Fusion PortalPKD2L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKD2L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKD2L1
dbVarPKD2L1
ClinVarPKD2L1
1000_GenomesPKD2L1 
Exome Variant ServerPKD2L1
ExAC (Exome Aggregation Consortium)ENSG00000107593
GNOMAD BrowserENSG00000107593
Genetic variants : HAPMAP9033
Genomic Variants (DGV)PKD2L1 [DGVbeta]
DECIPHERPKD2L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKD2L1 
Mutations
ICGC Data PortalPKD2L1 
TCGA Data PortalPKD2L1 
Broad Tumor PortalPKD2L1
OASIS PortalPKD2L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKD2L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKD2L1
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 PKD2L1
DgiDB (Drug Gene Interaction Database)PKD2L1
DoCM (Curated mutations)PKD2L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKD2L1 (select a term)
intoGenPKD2L1
Cancer3DPKD2L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604532   
Orphanet
DisGeNETPKD2L1
MedgenPKD2L1
Genetic Testing Registry PKD2L1
NextProtQ9P0L9 [Medical]
TSGene9033
GENETestsPKD2L1
Target ValidationPKD2L1
Huge Navigator PKD2L1 [HugePedia]
snp3D : Map Gene to Disease9033
BioCentury BCIQPKD2L1
ClinGenPKD2L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9033
Chemical/Pharm GKB GenePA33344
Clinical trialPKD2L1
Miscellaneous
canSAR (ICR)PKD2L1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKD2L1
EVEXPKD2L1
GoPubMedPKD2L1
iHOPPKD2L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:22:22 CET 2017

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