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PKD2L2 (polycystin 2 like 2, transient receptor potential cation channel)

Identity

Alias_namespolycystic kidney disease 2-like 2
Alias_symbol (synonym)TRPP5
Other alias
HGNC (Hugo) PKD2L2
LocusID (NCBI) 27039
Atlas_Id 71941
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 137889436 and ends at 137940467 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)PKD2L2   9012
Cards
Entrez_Gene (NCBI)PKD2L2  27039  polycystin 2 like 2, transient receptor potential cation channel
AliasesTRPP5
GeneCards (Weizmann)PKD2L2
Ensembl hg19 (Hinxton)ENSG00000078795 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078795 [Gene_View]  chr5:137889436-137940467 [Contig_View]  PKD2L2 [Vega]
ICGC DataPortalENSG00000078795
TCGA cBioPortalPKD2L2
AceView (NCBI)PKD2L2
Genatlas (Paris)PKD2L2
WikiGenes27039
SOURCE (Princeton)PKD2L2
Genetics Home Reference (NIH)PKD2L2
Genomic and cartography
GoldenPath hg38 (UCSC)PKD2L2  -     chr5:137889436-137940467 +  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKD2L2  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblPKD2L2 - 5q31.2 [CytoView hg19]  PKD2L2 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBIPKD2L2 [Mapview hg19]  PKD2L2 [Mapview hg38]
OMIM604669   
Gene and transcription
Genbank (Entrez)AF118125 AF182034 AK301924 BC034619 BC038714
RefSeq transcript (Entrez)NM_001258448 NM_001258449 NM_001300921 NM_014386
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKD2L2
Cluster EST : UnigeneHs.716884 [ NCBI ]
CGAP (NCI)Hs.716884
Alternative Splicing GalleryENSG00000078795
Gene ExpressionPKD2L2 [ NCBI-GEO ]   PKD2L2 [ EBI - ARRAY_EXPRESS ]   PKD2L2 [ SEEK ]   PKD2L2 [ MEM ]
Gene Expression Viewer (FireBrowse)PKD2L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27039
GTEX Portal (Tissue expression)PKD2L2
Human Protein AtlasENSG00000078795-PKD2L2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZM6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZM6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZM6
Splice isoforms : SwissVarQ9NZM6
PhosPhoSitePlusQ9NZM6
Domains : Interpro (EBI)PKD1_2_channel    PKD_2   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
Conserved Domain (NCBI)PKD2L2
DMDM Disease mutations27039
Blocks (Seattle)PKD2L2
SuperfamilyQ9NZM6
Human Protein Atlas [tissue]ENSG00000078795-PKD2L2 [tissue]
Peptide AtlasQ9NZM6
HPRD05238
IPIIPI00021443   IPI00216678   IPI00216679   IPI00216680   IPI00070729   IPI00910627   IPI00967867   IPI00384675   IPI00967262   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZM6
IntAct (EBI)Q9NZM6
FunCoupENSG00000078795
BioGRIDPKD2L2
STRING (EMBL)PKD2L2
ZODIACPKD2L2
Ontologies - Pathways
QuickGOQ9NZM6
Ontology : AmiGOcalcium channel activity  calcium ion binding  biological_process  integral component of membrane  detection of mechanical stimulus  calcium ion transmembrane transport  
Ontology : EGO-EBIcalcium channel activity  calcium ion binding  biological_process  integral component of membrane  detection of mechanical stimulus  calcium ion transmembrane transport  
NDEx NetworkPKD2L2
Atlas of Cancer Signalling NetworkPKD2L2
Wikipedia pathwaysPKD2L2
Orthology - Evolution
OrthoDB27039
GeneTree (enSembl)ENSG00000078795
Phylogenetic Trees/Animal Genes : TreeFamPKD2L2
HOVERGENQ9NZM6
HOGENOMQ9NZM6
Homologs : HomoloGenePKD2L2
Homology/Alignments : Family Browser (UCSC)PKD2L2
Gene fusions - Rearrangements
Fusion: Tumor Portal PKD2L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKD2L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKD2L2
dbVarPKD2L2
ClinVarPKD2L2
1000_GenomesPKD2L2 
Exome Variant ServerPKD2L2
ExAC (Exome Aggregation Consortium)ENSG00000078795
GNOMAD BrowserENSG00000078795
Genetic variants : HAPMAP27039
Genomic Variants (DGV)PKD2L2 [DGVbeta]
DECIPHERPKD2L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKD2L2 
Mutations
ICGC Data PortalPKD2L2 
TCGA Data PortalPKD2L2 
Broad Tumor PortalPKD2L2
OASIS PortalPKD2L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKD2L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKD2L2
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 PKD2L2
DgiDB (Drug Gene Interaction Database)PKD2L2
DoCM (Curated mutations)PKD2L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKD2L2 (select a term)
intoGenPKD2L2
Cancer3DPKD2L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604669   
Orphanet
MedgenPKD2L2
Genetic Testing Registry PKD2L2
NextProtQ9NZM6 [Medical]
TSGene27039
GENETestsPKD2L2
Target ValidationPKD2L2
Huge Navigator PKD2L2 [HugePedia]
snp3D : Map Gene to Disease27039
BioCentury BCIQPKD2L2
ClinGenPKD2L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27039
Chemical/Pharm GKB GenePA33345
Clinical trialPKD2L2
Miscellaneous
canSAR (ICR)PKD2L2 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKD2L2
EVEXPKD2L2
GoPubMedPKD2L2
iHOPPKD2L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:22:39 CET 2017

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