Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PKDREJ (polycystin family receptor for egg jelly)

Identity

Alias_namespolycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like
polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like
polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)
Other alias-
HGNC (Hugo) PKDREJ
LocusID (NCBI) 10343
Atlas_Id 71943
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 46255663 and ends at 46263322 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)PKDREJ   9015
Cards
Entrez_Gene (NCBI)PKDREJ  10343  polycystin family receptor for egg jelly
Aliases
GeneCards (Weizmann)PKDREJ
Ensembl hg19 (Hinxton)ENSG00000130943 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130943 [Gene_View]  chr22:46255663-46263322 [Contig_View]  PKDREJ [Vega]
ICGC DataPortalENSG00000130943
TCGA cBioPortalPKDREJ
AceView (NCBI)PKDREJ
Genatlas (Paris)PKDREJ
WikiGenes10343
SOURCE (Princeton)PKDREJ
Genetics Home Reference (NIH)PKDREJ
Genomic and cartography
GoldenPath hg38 (UCSC)PKDREJ  -     chr22:46255663-46263322 -  22q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKDREJ  -     22q13.31   [Description]    (hg19-Feb_2009)
EnsemblPKDREJ - 22q13.31 [CytoView hg19]  PKDREJ - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBIPKDREJ [Mapview hg19]  PKDREJ [Mapview hg38]
OMIM604670   
Gene and transcription
Genbank (Entrez)AF116458 AL137288 BC027601
RefSeq transcript (Entrez)NM_006071
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKDREJ
Cluster EST : UnigeneHs.241383 [ NCBI ]
CGAP (NCI)Hs.241383
Alternative Splicing GalleryENSG00000130943
Gene ExpressionPKDREJ [ NCBI-GEO ]   PKDREJ [ EBI - ARRAY_EXPRESS ]   PKDREJ [ SEEK ]   PKDREJ [ MEM ]
Gene Expression Viewer (FireBrowse)PKDREJ [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10343
GTEX Portal (Tissue expression)PKDREJ
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NTG1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NTG1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NTG1
Splice isoforms : SwissVarQ9NTG1
PhosPhoSitePlusQ9NTG1
Domaine pattern : Prosite (Expaxy)PLAT (PS50095)    REJ (PS51111)   
Domains : Interpro (EBI)GPS    PKD/REJ-like    PKD1_2_channel    PKD_2    PLAT/LH2_dom    REJ_dom   
Domain families : Pfam (Sanger)PKD_channel (PF08016)    PLAT (PF01477)    REJ (PF02010)   
Domain families : Pfam (NCBI)pfam08016    pfam01477    pfam02010   
Domain families : Smart (EMBL)GPS (SM00303)  LH2 (SM00308)  
Conserved Domain (NCBI)PKDREJ
DMDM Disease mutations10343
Blocks (Seattle)PKDREJ
SuperfamilyQ9NTG1
Human Protein AtlasENSG00000130943
Peptide AtlasQ9NTG1
HPRD05239
IPIIPI00005750   
Protein Interaction databases
DIP (DOE-UCLA)Q9NTG1
IntAct (EBI)Q9NTG1
FunCoupENSG00000130943
BioGRIDPKDREJ
STRING (EMBL)PKDREJ
ZODIACPKDREJ
Ontologies - Pathways
QuickGOQ9NTG1
Ontology : AmiGOcalcium channel activity  calcium ion binding  acrosome reaction  membrane  integral component of membrane  detection of mechanical stimulus  calcium ion transmembrane transport  
Ontology : EGO-EBIcalcium channel activity  calcium ion binding  acrosome reaction  membrane  integral component of membrane  detection of mechanical stimulus  calcium ion transmembrane transport  
NDEx NetworkPKDREJ
Atlas of Cancer Signalling NetworkPKDREJ
Wikipedia pathwaysPKDREJ
Orthology - Evolution
OrthoDB10343
GeneTree (enSembl)ENSG00000130943
Phylogenetic Trees/Animal Genes : TreeFamPKDREJ
HOVERGENQ9NTG1
HOGENOMQ9NTG1
Homologs : HomoloGenePKDREJ
Homology/Alignments : Family Browser (UCSC)PKDREJ
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKDREJ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKDREJ
dbVarPKDREJ
ClinVarPKDREJ
1000_GenomesPKDREJ 
Exome Variant ServerPKDREJ
ExAC (Exome Aggregation Consortium)PKDREJ (select the gene name)
Genetic variants : HAPMAP10343
Genomic Variants (DGV)PKDREJ [DGVbeta]
DECIPHERPKDREJ [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKDREJ 
Mutations
ICGC Data PortalPKDREJ 
TCGA Data PortalPKDREJ 
Broad Tumor PortalPKDREJ
OASIS PortalPKDREJ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKDREJ  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKDREJ
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 PKDREJ
DgiDB (Drug Gene Interaction Database)PKDREJ
DoCM (Curated mutations)PKDREJ (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKDREJ (select a term)
intoGenPKDREJ
Cancer3DPKDREJ(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604670   
Orphanet
MedgenPKDREJ
Genetic Testing Registry PKDREJ
NextProtQ9NTG1 [Medical]
TSGene10343
GENETestsPKDREJ
Target ValidationPKDREJ
Huge Navigator PKDREJ [HugePedia]
snp3D : Map Gene to Disease10343
BioCentury BCIQPKDREJ
ClinGenPKDREJ
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10343
Chemical/Pharm GKB GenePA33347
Clinical trialPKDREJ
Miscellaneous
canSAR (ICR)PKDREJ (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKDREJ
EVEXPKDREJ
GoPubMedPKDREJ
iHOPPKDREJ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:36:28 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.