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KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)

Identity

Alias_namesKDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
Alias_symbol (synonym)ELP-1
ERD2.2
Other alias
HGNC (Hugo) KDELR2
LocusID (NCBI) 11014
Atlas_Id 54402
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 6461081 and ends at 6484218 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KDELR2 (7p22.1) / GOPC (6q22.1)KDELR2 (7p22.1) / ROS1 (6q22.1)SNX8 (7p22.3) / KDELR2 (7p22.1)
SNX8 7p22.3 / KDELR2 7p22.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)KDELR2   6305
Cards
Entrez_Gene (NCBI)KDELR2  11014  KDEL endoplasmic reticulum protein retention receptor 2
AliasesELP-1; ERD2.2
GeneCards (Weizmann)KDELR2
Ensembl hg19 (Hinxton)ENSG00000136240 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136240 [Gene_View]  chr7:6461081-6484218 [Contig_View]  KDELR2 [Vega]
ICGC DataPortalENSG00000136240
TCGA cBioPortalKDELR2
AceView (NCBI)KDELR2
Genatlas (Paris)KDELR2
WikiGenes11014
SOURCE (Princeton)KDELR2
Genetics Home Reference (NIH)KDELR2
Genomic and cartography
GoldenPath hg38 (UCSC)KDELR2  -     chr7:6461081-6484218 -  7p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KDELR2  -     7p22.1   [Description]    (hg19-Feb_2009)
EnsemblKDELR2 - 7p22.1 [CytoView hg19]  KDELR2 - 7p22.1 [CytoView hg38]
Mapping of homologs : NCBIKDELR2 [Mapview hg19]  KDELR2 [Mapview hg38]
OMIM609024   
Gene and transcription
Genbank (Entrez)AK093917 AK124072 AK315702 AL547016 AV660600
RefSeq transcript (Entrez)NM_001100603 NM_006854
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KDELR2
Cluster EST : UnigeneHs.654552 [ NCBI ]
CGAP (NCI)Hs.654552
Alternative Splicing GalleryENSG00000136240
Gene ExpressionKDELR2 [ NCBI-GEO ]   KDELR2 [ EBI - ARRAY_EXPRESS ]   KDELR2 [ SEEK ]   KDELR2 [ MEM ]
Gene Expression Viewer (FireBrowse)KDELR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11014
GTEX Portal (Tissue expression)KDELR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP33947   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP33947  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP33947
Splice isoforms : SwissVarP33947
PhosPhoSitePlusP33947
Domaine pattern : Prosite (Expaxy)ER_LUMEN_RECEPTOR_1 (PS00951)    ER_LUMEN_RECEPTOR_2 (PS00952)   
Domains : Interpro (EBI)ER_ret_rcpt   
Domain families : Pfam (Sanger)ER_lumen_recept (PF00810)   
Domain families : Pfam (NCBI)pfam00810   
Conserved Domain (NCBI)KDELR2
DMDM Disease mutations11014
Blocks (Seattle)KDELR2
SuperfamilyP33947
Human Protein AtlasENSG00000136240
Peptide AtlasP33947
HPRD06598
IPIIPI00018248   IPI00450783   IPI00894313   
Protein Interaction databases
DIP (DOE-UCLA)P33947
IntAct (EBI)P33947
FunCoupENSG00000136240
BioGRIDKDELR2
STRING (EMBL)KDELR2
ZODIACKDELR2
Ontologies - Pathways
QuickGOP33947
Ontology : AmiGOGolgi membrane  KDEL sequence binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  cis-Golgi network  protein retention in ER lumen  intracellular protein transport  retrograde vesicle-mediated transport, Golgi to ER  integral component of membrane  transport vesicle  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  KDEL sequence binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  cis-Golgi network  protein retention in ER lumen  intracellular protein transport  retrograde vesicle-mediated transport, Golgi to ER  integral component of membrane  transport vesicle  extracellular exosome  
Pathways : KEGGVibrio cholerae infection   
NDEx NetworkKDELR2
Atlas of Cancer Signalling NetworkKDELR2
Wikipedia pathwaysKDELR2
Orthology - Evolution
OrthoDB11014
GeneTree (enSembl)ENSG00000136240
Phylogenetic Trees/Animal Genes : TreeFamKDELR2
HOVERGENP33947
HOGENOMP33947
Homologs : HomoloGeneKDELR2
Homology/Alignments : Family Browser (UCSC)KDELR2
Gene fusions - Rearrangements
Fusion : MitelmanKDELR2/GOPC [7p22.1/6q22.1]  
Fusion : MitelmanKDELR2/ROS1 [7p22.1/6q22.1]  [t(6;7)(q22;p22)]  
Fusion : MitelmanSNX8/KDELR2 [7p22.3/7p22.1]  [t(7;7)(p22;p22)]  
Fusion: TCGASNX8 7p22.3 KDELR2 7p22.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKDELR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KDELR2
dbVarKDELR2
ClinVarKDELR2
1000_GenomesKDELR2 
Exome Variant ServerKDELR2
ExAC (Exome Aggregation Consortium)KDELR2 (select the gene name)
Genetic variants : HAPMAP11014
Genomic Variants (DGV)KDELR2 [DGVbeta]
DECIPHERKDELR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKDELR2 
Mutations
ICGC Data PortalKDELR2 
TCGA Data PortalKDELR2 
Broad Tumor PortalKDELR2
OASIS PortalKDELR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKDELR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKDELR2
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch KDELR2
DgiDB (Drug Gene Interaction Database)KDELR2
DoCM (Curated mutations)KDELR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KDELR2 (select a term)
intoGenKDELR2
Cancer3DKDELR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609024   
Orphanet
MedgenKDELR2
Genetic Testing Registry KDELR2
NextProtP33947 [Medical]
TSGene11014
GENETestsKDELR2
Target ValidationKDELR2
Huge Navigator KDELR2 [HugePedia]
snp3D : Map Gene to Disease11014
BioCentury BCIQKDELR2
ClinGenKDELR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11014
Chemical/Pharm GKB GenePA30084
Clinical trialKDELR2
Miscellaneous
canSAR (ICR)KDELR2 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKDELR2
EVEXKDELR2
GoPubMedKDELR2
iHOPKDELR2
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 25 19:14:16 CEST 2017

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