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KDELR2 Gene

protein-coding   GIFtS: 60
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   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 Chromatin IP Primers for KDELR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ERD22_HUMAN, P33947 (See protein sequence)
Recommended Name: ER lumen protein retaining receptor 2  
Size: 212 amino acids; 24422 Da
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: 

  • Ubiquitination2 at Lys83
  • Modification sites at PhosphoSitePlus

  • See KDELR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000258739   ENSP00000420501   ENSP00000371702  

    KDELR2 Human Recombinant Protein Products:

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    Novus Biologicals KDELR2 Protein
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    KDELR2 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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: Let us create your new Knockout/Knockin mouse model for KDELR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KDELR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KDELR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KDELR2

    miRNA
    Products:
        
    miRTarBase miRNAs that target KDELR2:
    hsa-mir-324-3p (MIRT042919), hsa-mir-124-3p (MIRT022164), hsa-mir-301a-3p (MIRT044224), hsa-mir-100-5p (MIRT048554), hsa-mir-19a-3p (MIRT050641)

    Block miRNA regulation of human, mouse, rat KDELR2 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for KDELR2
    Predesigned siRNA for gene silencing in human, mouse, rat KDELR2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for KDELR2 (see all 11)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KDELR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KDELR2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for KDELR2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDELR2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERD22_HUMAN, P33947: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus4
    extracellular2
    plasma membrane2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    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 component of membrane IEA--

    KDELR2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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
    2G Protein Signaling Pathways
    Signal transduction cAMP signaling0.44
    3Insulin receptor recycling
    Vibrio cholerae infection0.40
    4Signal transduction PKA signaling
    Signal transduction PKA signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KDELR2
    Interactions:

        Search GeneGlobe Interaction Network for KDELR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KDELR2 (P339471, 2, 3 ENSP000002587394) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    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 
    SSR2ENSP000002957024STRING: ENSP00000295702
    About this table

    Gene Ontology (GO): 3 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat KDELR2 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for KDELR2
    Predesigned siRNA for gene silencing in human, mouse, rat KDELR2
    Clone
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    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KDELR2
    OriGene qSTAR qPCR primer pairs in human, mouse for KDELR2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KDELR2
      QuantiTect SYBR Green Assays in human, mouse, rat KDELR2
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 842):

    CR616528 CK429644 BM782282 N62663 CR617298 AA961421 CA429346 BQ026727 
    AA250896 AI017874 AI278571 AI287851 AA629520 BQ447192 CR625485 AA485911 
    BQ019744 AW194076 N54581 AA588839 AU125682 AW074237 AA988515 N22130 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KDELR2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 16) fully expand
     
     Bone (Muscoskeletal System)
             Rib
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Testis (Reproductive System)
    KDELR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KDELR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654552
        Custom PCR Arrays for KDELR2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KDELR2
    OriGene qSTAR qPCR primer pairs in human, mouse for KDELR2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KDELR2
    QuantiTect SYBR Green Assays in human, mouse, rat KDELR2
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KDELR2 gene from Selected 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
    KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum prote...
    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
    erd-21
    ER lumen protein retaining receptor3
    erd-21
    66(a)3
    62.8(n)1
    66.67(a)1
      III(5978584-5980088)3
    1812281  NM_077302.51  NP_509703.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERD26
    HDEL receptor, an integral membrane protein that b...
    49(a)
    1 → many
    II(142112-142868) YBL040C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ERD2B1 ERD2B 58.1(n)
    54.29(a)
      822095  NM_113408.3  NP_566758.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g04730001 Os11g0473000 57.78(n)
    55.24(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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KDELR2 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KDELR2
    DNA2.0 Custom Variant and Variant Library Synthesis for KDELR2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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)
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    PubMed articles for KDELR2 gene, integrated from 10 sources (see all 19):
    (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. (Cell 1992)
    2. Sequence of a second human KDEL receptor. (PubMed id 1325562)1, 2, 3 Lewis M.J. and Pelham H.R.B. (J. Mol. Biol. 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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11014 HGNC: 6305 AceView: KDELR2 Ensembl:ENSG00000136240 euGenes: HUgn11014
    ECgene: KDELR2 Kegg: 11014 H-InvDB: KDELR2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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