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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KDELR2 Gene

protein-coding   GIFtS: 59
GCID: GC07M006485

KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor
21 2
     KDEL Receptor 22 3
ELP-12 3     (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor 22
ERD2.22 3     ER Lumen Protein Retaining Receptor 22
ERD2-Like Protein 12 3     ERD-2-Like Protein2
KDEL Endoplasmic Reticulum Protein Retention Receptor 22 3     

External Ids:    HGNC: 63051   Entrez Gene: 110142   Ensembl: ENSG000001362407   OMIM: 6090245   UniProtKB: P339473   

Export aliases for KDELR2 gene to outside databases

Previous GC identifers: GC07M006146 GC07M006246 GC07M006275 GC07M006467


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KDELR2 Gene:
Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast
and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these
proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and
his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the
tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single
gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting
the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified,
and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in
multiple transcript variants encoding distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for KDELR2 Gene: 
KDELR2 (KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2) is a protein-coding gene. Diseases associated with KDELR2 include cholera, and hepatocellular carcinoma, and among its related super-pathways are Activation of cAMP-Dependent PKA and Signal transduction PKA signaling. GO annotations related to this gene include KDEL sequence binding. An important paralog of this gene is KDELR3.

UniProtKB/Swiss-Prot: ERD22_HUMAN, P33947
Function: Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the
luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor
recognizes K-D-E-L

Gene Wiki entry for KDELR2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KDELR2 gene promoter:
         Max1   C/EBPbeta   Sp1   FOXD1   MyoD   CREB   RORalpha1   deltaCREB   MRF-2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): KDELR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for KDELR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KDELR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22.1   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p

KDELR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KDELR2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M006485:  view genomic region     (about GC identifiers)

Start:
6,485,584 bp from pter      End:
6,523,873 bp from pter
Size:
38,290 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 6,547,172-6,570,287     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ERD22_HUMAN, P33947 (See protein sequence)
Recommended Name: ER lumen protein retaining receptor 2  
Size: 212 amino acids; 24422 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: A4D2P4 Q6IPC5 Q96E30
Alternative splicing: 2 isoforms:  P33947-1   P33947-2   

Explore the universe of human proteins at neXtProt for KDELR2: NX_P33947

Explore proteomics data for KDELR2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P33947

  • KDELR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KDELR2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001094073.1  NP_006845.1  

    ENSEMBL proteins: 
     ENSP00000258739   ENSP00000420501   ENSP00000371702  

    Human Recombinant Protein Products for KDELR2: 
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    Novus Biologicals KDELR2 Protein
    Novus Biologicals KDELR2 Lysates
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for KDELR2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS1316805
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus TAS1316805
    GO:0005801cis-Golgi network IEA--
    GO:0016021integral to membrane IEA--

    KDELR2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000133 ER_ret_rcpt

    Graphical View of Domain Structure for InterPro Entry P33947

    ProtoNet protein and cluster: P33947

    1 Blocks protein domain: IPB000133 ER lumen protein retaining receptor

    UniProtKB/Swiss-Prot: ERD22_HUMAN, P33947
    Similarity: Belongs to the ERD2 family


    KDELR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERD22_HUMAN, P33947
    Function: Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the
    luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor
    recognizes K-D-E-L

         Genatlas biochemistry entry for KDELR2:
    endoplasmic reticulum protein retention receptor 2 (Lys-Asp-Glu-Leu),S cerevisiae ERD2 ortholog,allowing the
    retrieval of proteins from Golgi complex to ER,mimicking the brefeldin A (BFA)-like phenotype,when overexpressed

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005046KDEL sequence binding TAS1316805
    GO:0046923ER retention sequence binding ----
         
    KDELR2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KDELR2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KDELR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KDELR2 
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    miRNA
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    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate KDELR2 (see all 37):
    hsa-miR-607 hsa-miR-4272 hsa-let-7a-2* hsa-miR-507 hsa-miR-374c hsa-miR-124 hsa-miR-4325 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidKDELR2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KDELR2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Signal transduction PKA signaling
    Signal transduction PKA signaling1.00
    3Signal transduction cAMP signaling
    Signal transduction cAMP signaling0.44
    4Insulin receptor recycling
    Vibrio cholerae infection0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KDELR2
        Signal transduction cAMP signaling
    Signal transduction PKA signaling

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KDELR2
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    2 GeneGo (Thomson Reuters) Pathways for KDELR2
        Signal transduction cAMP signaling
    Signal transduction PKA signaling


    1         Kegg Pathway  (Kegg details for KDELR2):
        Vibrio cholerae infection


    KDELR2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KDELR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/15 Interacting proteins for KDELR2 (P339471, 2, 3 ENSP000002587394) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERINC3Q135301, 3, ENSP000002551754EBI-1056498,EBI-1045571 I2D: score=2 STRING: ENSP00000255175
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8201997 I2D: score=1 STRING: ENSP00000250416
    EXOC2Q96KP13I2D: score=5 
    CLINT1Q146773I2D: score=2 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006621protein retention in ER lumen IEA--
    GO:0006886intracellular protein transport TAS1325562
    GO:0016192vesicle-mediated transport IEA--

    KDELR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KDELR2 (ERD22)

    Search CenterWatch for drugs/clinical trials and news about KDELR2 / ERD22

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KDELR2 gene (2 alternative transcripts): 
    NM_001100603.1  NM_006854.3  

    Unigene Cluster for KDELR2:

    KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
    Hs.654552  [show with all ESTs]
    Unigene Representative Sequence: NM_006854
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463747 ENST00000258739(uc003sqe.4 uc003sqf.4) ENST00000454368
    ENST00000490996 ENST00000382267 ENST00000462052
    miRNA
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    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate KDELR2 (see all 37):
    hsa-miR-607 hsa-miR-4272 hsa-let-7a-2* hsa-miR-507 hsa-miR-374c hsa-miR-124 hsa-miR-4325 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidKDELR2 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    OriGene clones in human, mouse for KDELR2 (see all 13)
    OriGene ORF clones in mouse, rat for KDELR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KDELR2 (NM_006854)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KDELR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KDELR2
    Sirion Biotech Customized lentivirus for stable overexpression of KDELR2 
                         Customized lentivirus expression plasmids for stable overexpression of KDELR2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KDELR2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KDELR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KDELR2

    Additional mRNA sequence: 

    AK093917.1 AK124072.1 AK315702.1 BC008081.2 BC012994.2 BC071982.1 M88458.1 X63745.1 

    24/31 DOTS entries (see all 31):

    DT.100728052  DT.451887  DT.95327210  DT.92411857  DT.100728080  DT.100728072  DT.91799331  DT.91770992 
    DT.100727543  DT.91770998  DT.97864637  DT.100728066  DT.451889  DT.100863169  DT.100728048  DT.100728063 
    DT.100728084  DT.100728047  DT.91770990  DT.100728088  DT.100861958  DT.92324173  DT.100728085  DT.100861883 

    24/842 AceView cDNA sequences (see all 842):

    CK429644 BI260540 AI224857 AI571090 AI963278 AI445050 BQ026727 CD672698 
    CR625485 CA429346 AW194076 AA588839 N54581 AU125682 N22130 AI659457 
    AW149403 BU737125 BQ447192 AA485911 AI587251 BM663251 AI208359 CR617298 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KDELR2    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c
    SP1:              -     -                                 
    SP2:              -     -           -                     
    SP3:                                                      
    SP4:                                                      


    ECgene alternative splicing isoforms for KDELR2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KDELR2 expression in normal human tissues (normalized intensities)      KDELR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAGGTCTG
    KDELR2 Expression
    About this image


    KDELR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Thoracic Rib
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   

    See KDELR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KDELR2

    SOURCE GeneReport for Unigene cluster: Hs.654552
        SABiosciences Custom PCR Arrays for KDELR2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KDELR2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDELR2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KDELR2 gene from 10/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kdelr21 , 5 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein more1, 5 90.57(n)1
    98.58(a)1
      5 (82.12 cM)5
    669131  NM_025841.41  NP_080117.11 
     1434038205 
    chicken
    (Gallus gallus)
    Aves KDELR21 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein more 85.85(n)
    95.75(a)
      771927  NM_001159715.1  NP_001153187.1 
    lizard
    (Anolis carolinensis)
    Reptilia KDELR26
    ER lumen protein retaining receptor
    95(a)
    1 ↔ 1
    GL343507.1(72359-85120)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044272.12   -- 83.49(n)    BC044272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056773.12   -- 79.97(n)   373129  BC056773.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta KdelR3 retrograde (Golgi to ER) transport KDEL
    receptor
    74(a)   31E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea C28H8.43 ER lumen protein retaining receptor 66(a)   III(5978584-5980088)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERD26
    HDEL receptor, an integral membrane protein that b...
    48(a)
    1 → many
    II(142112-142868)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ERD2B1 ER lumen protein retaining receptor 58.25(n)
    54.29(a)
      822095  NM_113408.3  NP_566758.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g04730001 hypothetical protein 57.39(n)
    54.25(a)
      4350496  NM_001074413.1  NP_001067881.1 


    ENSEMBL Gene Tree for KDELR2 (if available)
    TreeFam Gene Tree for KDELR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KDELR2 gene
    KDELR32  KDELR12  
    2 SIMAP similar genes for KDELR2 using alignment to 2 protein entries:     ERD22_HUMAN (see all proteins):
    KDELR1    KDELR3

    KDELR2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/659 SNPs in KDELR2 are shown (see all 659)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1895505801,2
    --6500242(+) GGGAAC/TCAAGC 2 -- ds50010--------
    rs1815624161,2
    --6500301(+) TCCCAC/TAAATC 2 -- ds50010--------
    rs1866828811,2
    --6500376(+) GGGAAA/GCTTCT 2 -- ds50010--------
    rs1158392741,2
    C,F--6500424(+) GATTGG/ATCTCT 2 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1906062571,2
    --6500492(+) TAGTTG/TTTTAA 2 -- ds50010--------
    rs730573941,2
    C,F--6500633(+) TTCCTA/GTATCC 2 -- ds50015Minor allele frequency- G:0.08WA NA EA 362
    rs77880911,2
    C,F,A,H--6500638(+) ATATCA/CATTAC 2 -- ds500116Minor allele frequency- C:0.27NS EA NA WA CSA 780
    rs795712141,2
    C--6500717(+) TAAAAA/GTATTA 2 -- ut313Minor allele frequency- G:0.19NA WA 240
    rs1396134811,2
    C--6500721(+) AATATG/TAATTA 2 -- ut310--------
    rs1123741841,2
    C--6500726(+) TAATTT/ACCTGG 2 -- ut311Minor allele frequency- A:0.00CSA 1

    HapMap Linkage Disequilibrium report for KDELR2 (6485584 - 6523873 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KDELR2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2733928CNV Deletion23290073
    nsv436904CNV Insertion17901297
    dgv7147n71CNV Loss21882294
    nsv830895CNV Loss17160897
    esv1914954OTHER Inversion16254605
    nsv7392OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609024    OMIM disorders: --

    2 diseases for KDELR2:    About MalaCards
    cholera    hepatocellular carcinoma


    KDELR2 for disorders           About GeneDecksing


    Export disorders for KDELR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KDELR2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with KDELR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A brefeldin A-like phenotype is induced by the overexpression of a human ERD-2-like protein, ELP-1. (PubMed id 1316805)1, 2, 3, 9 Hsu V.W.... Klausner R.D. (1992)
    2. Sequence of a second human KDEL receptor. (PubMed id 1325562)1, 2, 3 Lewis M.J. and Pelham H.R. (1992)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    10. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11014 HGNC: 6305 AceView: KDELR2 Ensembl:ENSG00000136240 euGenes: HUgn11014
    ECgene: KDELR2 Kegg: 11014 H-InvDB: KDELR2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KDELR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KDELR2 gene:
    Search GeneIP for patents involving KDELR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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