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FLASH GENE
Symbol KDELR2 contributors: KTN/npt - updated : 08/10/2008
HGNC name KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
HGNC id 6305
Location 7p22.1      Physical location : 6.500.712 - 6.523.849
Synonym symbol(s) ELP1, ERD2-2, ELP-1, ERD2.2
DNA
TYPE functioning gene
STRUCTURE 23.14 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D7S481 - KDELR2 - D7S2553 - D7S2464 - cen
Authors Gene Map (98)
Physical map
KDELR2 7p22-p21 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 FLJ20306 7p22.2 hypothetical protein FLJ20306 LOC392861 7 similar to ribosomal protein L31 LOC392862 7 similar to GluR-delta2 philic-protein USP42 7p22.2 ubiquitin specific protease 42 PIK3CG 7q21.11 phosphoinositide-3-kinase, catalytic, gamma polypeptide PSCD3 7q21 pleckstrin homology, Sec7 and coiled-coil domains 3 ZDHHC4 7p22.2 zinc finger, DHHC domain containing 4 C7orf26 7p22.1 chromosome 7 open reading frame 26 LOC392626 7 similar to zinc finger protein 316; kruppel-related zinc finger protein; transcription factor MZF-3 LOC392627 7 LOC392627 PRKAR2B 7q22-q31.1 protein kinase, cAMP-dependent, regulatory, type II, beta ZNF325 7p22.2 zinc finger protein 325 MGC12966 7p22.2 hypothetical protein MGC12966 LOC392628 7 hypothetical gene supported by AB116525; NM_000535 RAC1 7p22 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) LOC221955 7p22.2 KCCR13L C7orf28B 7p22.2 chromosome 7 open reading frame 28B HBP1 7q22-q31 HMG-box transcription factor 1 LOC392863 7 similar to olfactory receptor MOR145-1 COG5 7q31 component of oligomeric golgi complex 5 KDELR2 7p22-p21 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 LOC392629 7 similar to unc-93 homolog B1; unc93 (C.elegans) homolog B; unc-93 related protein LOC392864 7 hypothetical gene supported by AK122996 FLJ20306 7p22.2 hypothetical protein FLJ20306 LOC391999 7 similar to ribosomal protein L31 LOC340265 7p22.2 similar to GluR-delta2 philic-protein LOC392865 7 similar to Asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) LOC392866 7 similar to hypothetical protein FLJ10661 ZDHHC4 7p22.2 zinc finger, DHHC domain containing 4 C7orf26 7p22.1 chromosome 7 open reading frame 26 LOC389461 7 similar to zinc finger protein 316; kruppel-related zinc finger protein; transcription factor MZF-3 ZNF325 7p22.2 zinc finger protein 325 LOC392867 7 similar to vav-1 interacting Kruppel-like protein isoform a GPR22 7q22-q31.1 G protein-coupled receptor 22
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 2874 24.3 212 - -
4 splicing 2621 21.2 186 - -
  • lacking an exon in the coding region compared to variant 1 which results in a frameshift
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
     vessel   highly
    Digestiveintestine   highly
     liver   moderately
     mouth   moderately
     stomach   highly
    Endocrineadrenal gland   moderately
     thyroid   moderately
    Hearing/Equilibriumear   moderately
    Nervousnerve   moderately
    Reproductivefemale systemuteruscervix moderately
     female systembreastmammary gland moderately
     female systemplacenta  highly
     male systemprostate  moderately
     male systemtestis  moderately
    Respiratoryrespiratory tracttrachea  moderately
    Skin/Tegumentskin   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text moderately in umbilical cord, highly in placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to dog KDELR2 (98.6 pc)
    homolog to cow KDELR2 (98.6 pc)
    homolog to rattus Kdelr2 (98.6 pc)
    homolog to murine Kdelr2 (98.6 pc)
    homolog to chicken KDELR2 (95.3 pc)
    intraspecies homolog to KDELR 1
    Homologene
    FAMILY
  • KDELR family
  • ERD2 family
  • CATEGORY receptor membrane G , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text multi-pass membrane protein
    basic FUNCTION
  • allowing the retrieval of proteins from Golgi complex to ER
  • mediating a retrieval mechanism contributing to quality control at the RE
  • required for the retention of luminal endoplasmic reticulum proteins
  • determining the specificity of the luminal ER protein retention system
  • required for normal vesicular traffic through the Golgi
  • CELLULAR PROCESS protein
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text
  • protein transport
  • Er-Golgi transport
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    mimicking the brefeldin A (BFA)-like phenotype
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS