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

Identity

Alias (NCBI)PCL
PKD2L
PKDL
TRPP3
HGNC (Hugo) PKD2L1
HGNC Alias symbPCL
TRPP3
HGNC Alias nametransient receptor potential cation channel, subfamily P, member 3
HGNC Previous namePKD2L
 PKDL
HGNC Previous namepolycystic kidney disease 2-like 1
LocusID (NCBI) 9033
Atlas_Id 71940
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100288151 and ends at 100330228 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    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]  ENSG00000107593 [Sequence]  chr10:100288151-100330228 [Contig_View]  PKD2L1 [Vega]
ICGC DataPortalENSG00000107593
TCGA cBioPortalPKD2L1
AceView (NCBI)PKD2L1
Genatlas (Paris)PKD2L1
SOURCE (Princeton)PKD2L1
Genetics Home Reference (NIH)PKD2L1
Genomic and cartography
GoldenPath hg38 (UCSC)PKD2L1  -     chr10:100288151-100330228 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKD2L1  -     10q24.31   [Description]    (hg19-Feb_2009)
GoldenPathPKD2L1 - 10q24.31 [CytoView hg19]  PKD2L1 - 10q24.31 [CytoView hg38]
ImmunoBaseENSG00000107593
Genome Data Viewer NCBIPKD2L1 [Mapview hg19]  
OMIM604532   
Gene and transcription
Genbank (Entrez)AF053316 AF073481 AF092170 AF094827 BC025665
RefSeq transcript (Entrez)NM_001253837 NM_016112
Consensus coding sequences : CCDS (NCBI)PKD2L1
Gene ExpressionPKD2L1 [ NCBI-GEO ]   PKD2L1 [ EBI - ARRAY_EXPRESS ]   PKD2L1 [ SEEK ]   PKD2L1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKD2L1 [ Firebrowse - Broad ]
GenevisibleExpression of PKD2L1 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
PhosPhoSitePlusQ9P0L9
Domains : Interpro (EBI)PKD1_2_channel    PKD_2    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
Conserved Domain (NCBI)PKD2L1
PDB (RSDB)3TE3    4GIF    6DU8   
PDB Europe3TE3    4GIF    6DU8   
PDB (PDBSum)3TE3    4GIF    6DU8   
PDB (IMB)3TE3    4GIF    6DU8   
Structural Biology KnowledgeBase3TE3    4GIF    6DU8   
SCOP (Structural Classification of Proteins)3TE3    4GIF    6DU8   
CATH (Classification of proteins structures)3TE3    4GIF    6DU8   
SuperfamilyQ9P0L9
AlphaFold pdb e-kbQ9P0L9   
Human Protein Atlas [tissue]ENSG00000107593-PKD2L1 [tissue]
HPRD16063
Protein Interaction databases
DIP (DOE-UCLA)Q9P0L9
IntAct (EBI)Q9P0L9
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  calcium channel activity  sodium channel activity  sodium channel activity  calcium ion binding  calcium ion binding  calcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  smoothened signaling pathway  cytoskeletal protein binding  cation transmembrane transporter activity  response to water  cell surface  calcium-activated potassium channel activity  calcium-activated potassium channel activity  membrane  membrane  integral component of membrane  cytoplasmic vesicle  sour taste receptor activity  calcium channel complex  sodium ion transmembrane transport  identical protein binding  intracellular membrane-bounded organelle  receptor complex  detection of chemical stimulus involved in sensory perception of taste  sensory perception of sour taste  detection of mechanical stimulus  protein homotetramerization  muscle alpha-actinin binding  muscle alpha-actinin binding  alpha-actinin binding  ciliary membrane  calcium ion transmembrane transport  cellular response to acidic pH  potassium ion transmembrane transport  potassium ion transmembrane transport  non-motile cilium  inorganic cation transmembrane transport  
Ontology : EGO-EBIdetection of chemical stimulus involved in sensory perception of sour taste  calcium activated cation channel activity  cation channel activity  calcium channel activity  calcium channel activity  sodium channel activity  sodium channel activity  calcium ion binding  calcium ion binding  calcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  smoothened signaling pathway  cytoskeletal protein binding  cation transmembrane transporter activity  response to water  cell surface  calcium-activated potassium channel activity  calcium-activated potassium channel activity  membrane  membrane  integral component of membrane  cytoplasmic vesicle  sour taste receptor activity  calcium channel complex  sodium ion transmembrane transport  identical protein binding  intracellular membrane-bounded organelle  receptor complex  detection of chemical stimulus involved in sensory perception of taste  sensory perception of sour taste  detection of mechanical stimulus  protein homotetramerization  muscle alpha-actinin binding  muscle alpha-actinin binding  alpha-actinin binding  ciliary membrane  calcium ion transmembrane transport  cellular response to acidic pH  potassium ion transmembrane transport  potassium ion transmembrane transport  non-motile cilium  inorganic cation transmembrane transport  
NDEx NetworkPKD2L1
Atlas of Cancer Signalling NetworkPKD2L1
Wikipedia pathwaysPKD2L1
Orthology - Evolution
OrthoDB9033
GeneTree (enSembl)ENSG00000107593
Phylogenetic Trees/Animal Genes : TreeFamPKD2L1
Homologs : HomoloGenePKD2L1
Homology/Alignments : Family Browser (UCSC)PKD2L1
Gene fusions - Rearrangements
Fusion : QuiverPKD2L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKD2L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKD2L1
dbVarPKD2L1
ClinVarPKD2L1
MonarchPKD2L1
1000_GenomesPKD2L1 
Exome Variant ServerPKD2L1
GNOMAD BrowserENSG00000107593
Varsome BrowserPKD2L1
ACMGPKD2L1 variants
VarityQ9P0L9
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]  
Somatic Mutations in Cancer : COSMIC3DPKD2L1
Mutations and Diseases : HGMDPKD2L1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPKD2L1
DgiDB (Drug Gene Interaction Database)PKD2L1
DoCM (Curated mutations)PKD2L1
CIViC (Clinical Interpretations of Variants in Cancer)PKD2L1
Cancer3DPKD2L1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604532   
Orphanet
DisGeNETPKD2L1
MedgenPKD2L1
Genetic Testing Registry PKD2L1
NextProtQ9P0L9 [Medical]
GENETestsPKD2L1
Target ValidationPKD2L1
Huge Navigator PKD2L1 [HugePedia]
ClinGenPKD2L1
Clinical trials, drugs, therapy
MyCancerGenomePKD2L1
Protein Interactions : CTDPKD2L1
Pharm GKB GenePA33344
PharosQ9P0L9
Clinical trialPKD2L1
Miscellaneous
canSAR (ICR)PKD2L1
HarmonizomePKD2L1
DataMed IndexPKD2L1
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPKD2L1
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 16:16:18 CEST 2021

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