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PKD1L2 (polycystin 1 like 2 (gene/pseudogene))

Identity

Other aliasPC1L2
HGNC (Hugo) PKD1L2
LocusID (NCBI) 114780
Atlas_Id 56939
Location 16q23.2  [Link to chromosome band 16q23]
Location_base_pair Starts at 81170290 and ends at 81220370 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)PKD1L2   21715
Cards
Entrez_Gene (NCBI)PKD1L2  114780  polycystin 1 like 2 (gene/pseudogene)
AliasesPC1L2
GeneCards (Weizmann)PKD1L2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr16:81170290-81220370 [Contig_View]  PKD1L2 [Vega]
TCGA cBioPortalPKD1L2
AceView (NCBI)PKD1L2
Genatlas (Paris)PKD1L2
WikiGenes114780
SOURCE (Princeton)PKD1L2
Genetics Home Reference (NIH)PKD1L2
Genomic and cartography
GoldenPath hg38 (UCSC)PKD1L2  -     chr16:81170290-81220370 -  16q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKD1L2  -     16q23.2   [Description]    (hg19-Feb_2009)
EnsemblPKD1L2 - 16q23.2 [CytoView hg19]  PKD1L2 - 16q23.2 [CytoView hg38]
Mapping of homologs : NCBIPKD1L2 [Mapview hg19]  PKD1L2 [Mapview hg38]
OMIM607894   
Gene and transcription
Genbank (Entrez)AB067466 AK098052 AK127266 AK131378 AL832135
RefSeq transcript (Entrez)NM_001076780 NM_001278423 NM_001278425 NM_052892 NM_182740
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKD1L2
Cluster EST : UnigeneHs.413525 [ NCBI ]
CGAP (NCI)Hs.413525
Gene ExpressionPKD1L2 [ NCBI-GEO ]   PKD1L2 [ EBI - ARRAY_EXPRESS ]   PKD1L2 [ SEEK ]   PKD1L2 [ MEM ]
Gene Expression Viewer (FireBrowse)PKD1L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114780
GTEX Portal (Tissue expression)PKD1L2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z442   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z442  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z442
Splice isoforms : SwissVarQ7Z442
PhosPhoSitePlusQ7Z442
Domaine pattern : Prosite (Expaxy)C_TYPE_LECTIN_2 (PS50041)    GPS (PS50221)    PLAT (PS50095)    REJ (PS51111)    SUEL_LECTIN (PS50228)   
Domains : Interpro (EBI)C-type_lectin-like    C-type_lectin-like/link    CTDL_fold    GPS    Lectin_gal-bd_dom    PKD/REJ-like    PKD1_2_channel    PKD_2    PLAT/LH2_dom    REJ_dom   
Domain families : Pfam (Sanger)Gal_Lectin (PF02140)    GPS (PF01825)    Lectin_C (PF00059)    PKD_channel (PF08016)    PLAT (PF01477)    REJ (PF02010)   
Domain families : Pfam (NCBI)pfam02140    pfam01825    pfam00059    pfam08016    pfam01477    pfam02010   
Domain families : Smart (EMBL)CLECT (SM00034)  GPS (SM00303)  LH2 (SM00308)  
Conserved Domain (NCBI)PKD1L2
DMDM Disease mutations114780
Blocks (Seattle)PKD1L2
SuperfamilyQ7Z442
Peptide AtlasQ7Z442
IPIIPI00373872   IPI00884918   IPI00983380   IPI00884899   IPI00885146   IPI00060442   IPI00885202   IPI00060460   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z442
IntAct (EBI)Q7Z442
BioGRIDPKD1L2
STRING (EMBL)PKD1L2
ZODIACPKD1L2
Ontologies - Pathways
QuickGOQ7Z442
Ontology : AmiGOcalcium channel activity  calcium ion binding  membrane  integral component of membrane  carbohydrate binding  detection of mechanical stimulus  calcium ion transmembrane transport  
Ontology : EGO-EBIcalcium channel activity  calcium ion binding  membrane  integral component of membrane  carbohydrate binding  detection of mechanical stimulus  calcium ion transmembrane transport  
NDEx NetworkPKD1L2
Atlas of Cancer Signalling NetworkPKD1L2
Wikipedia pathwaysPKD1L2
Orthology - Evolution
OrthoDB114780
Phylogenetic Trees/Animal Genes : TreeFamPKD1L2
HOVERGENQ7Z442
HOGENOMQ7Z442
Homologs : HomoloGenePKD1L2
Homology/Alignments : Family Browser (UCSC)PKD1L2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKD1L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKD1L2
dbVarPKD1L2
ClinVarPKD1L2
1000_GenomesPKD1L2 
Exome Variant ServerPKD1L2
ExAC (Exome Aggregation Consortium)PKD1L2 (select the gene name)
Genetic variants : HAPMAP114780
Genomic Variants (DGV)PKD1L2 [DGVbeta]
DECIPHERPKD1L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKD1L2 
Mutations
ICGC Data PortalPKD1L2 
TCGA Data PortalPKD1L2 
Broad Tumor PortalPKD1L2
OASIS PortalPKD1L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKD1L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKD1L2
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 PKD1L2
DgiDB (Drug Gene Interaction Database)PKD1L2
DoCM (Curated mutations)PKD1L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKD1L2 (select a term)
intoGenPKD1L2
Cancer3DPKD1L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607894   
Orphanet
MedgenPKD1L2
Genetic Testing Registry PKD1L2
NextProtQ7Z442 [Medical]
TSGene114780
GENETestsPKD1L2
Target ValidationPKD1L2
Huge Navigator PKD1L2 [HugePedia]
snp3D : Map Gene to Disease114780
BioCentury BCIQPKD1L2
ClinGenPKD1L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114780
Chemical/Pharm GKB GenePA134874396
Clinical trialPKD1L2
Miscellaneous
canSAR (ICR)PKD1L2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKD1L2
EVEXPKD1L2
GoPubMedPKD1L2
iHOPPKD1L2
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 14:03:26 CEST 2017

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