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FLASH GENE
Symbol KDELR2 contributors: mct - updated : 29-05-2019
HGNC name KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
HGNC id 6305
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)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 2874 24.3 212 - 2015 25682866
4 splicing 2621 21.2 186 - 2015 25682866
  • 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
    Cardiovascularvessel   highly
    Digestiveintestine   highly
     stomach   highly
    Endocrineadrenal gland   moderately
    Hearing/Equilibriumear   moderately
    Reproductivefemale systembreastmammary gland moderately
     female systemuteruscervix moderately
     female systemplacenta  highly
     male systemprostate  moderately
     male systemtestis  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 rattus Kdelr2 (98.6 pc)
    homolog to murine Kdelr2 (98.6 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
  • at the Golgi, KDELR1, KDELR2 acts as a traffic sensor (presumably via binding to chaperones that leave the ER) and triggers signalling pathways that balance membrane fluxes between ER and Golgi
  • localize mainly to the Golgi-complex (usually cis-side), the endoplasmic reticulum (ER), and the intermediate ER-Golgi compartment (ERGIC)
  • 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
  • KDELR2 competes with MV envelope proteins for binding to calnexin and HSPA5, and this interaction limits the availability of the chaperones for Measles Virus (MV) proteins, causing the reduction of virus spread and titers
  • KDELR1, KDELR2 regulates secretion by lysosome relocation- and autophagy-dependent modulation of lipid-droplet turnover
  • 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
  • KDELR1, KDELR2 activates CREB1 and other transcription factors that upregulate transport-related genes
  • KDELR1, KDELR2 induces SRC activation at the invadopodia and leads to phosphorylation of the SRC substrates cortactin and ASAP1, which are required for basal and KDELR-stimulated ECM (extracellular matrix) degradation
  • PHB can act as a signalling scaffold protein to assist in KDELR1, KDELR2-dependent Src activation
  • crucial role of SERPINH1 in the KDELR2-associated pathogenic mechanism leading to Osteogenesis imperfecta (OI)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OIXXI
    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