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Aliases for KDELR2 Gene

Aliases for KDELR2 Gene

  • KDEL Endoplasmic Reticulum Protein Retention Receptor 2 2 3 4 5
  • KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor 2 2 3
  • ERD2-Like Protein 1 3 4
  • KDEL Receptor 2 3 4
  • ERD2.2 3 4
  • ELP-1 3 4
  • (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor 2 3
  • ER Lumen Protein Retaining Receptor 2 3
  • ERD-2-Like Protein 3

External Ids for KDELR2 Gene

Previous GeneCards Identifiers for KDELR2 Gene

  • GC07M006146
  • GC07M006246
  • GC07M006275
  • GC07M006467

Summaries for KDELR2 Gene

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 Endoplasmic Reticulum Protein Retention Receptor 2) is a Protein Coding gene. Among its related pathways are Golgi-to-ER retrograde transport and Activation of cAMP-Dependent PKA. GO annotations related to this gene include ER retention sequence binding and KDEL sequence binding. An important paralog of this gene is KDELR1.

UniProtKB/Swiss-Prot for KDELR2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDELR2 Gene

Genomics for KDELR2 Gene

Regulatory Elements for KDELR2 Gene

Enhancers for KDELR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KDELR2 on UCSC Golden Path with GeneCards custom track

Promoters for KDELR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KDELR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KDELR2 Gene

Chromosome:
7
Start:
6,445,953 bp from pter
End:
6,484,242 bp from pter
Size:
38,290 bases
Orientation:
Minus strand

Genomic View for KDELR2 Gene

Genes around KDELR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDELR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KDELR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KDELR2 Gene

Proteins for KDELR2 Gene

  • Protein details for KDELR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33947-ERD22_HUMAN
    Recommended name:
    ER lumen protein-retaining receptor 2
    Protein Accession:
    P33947
    Secondary Accessions:
    • A4D2P4
    • Q6IPC5
    • Q96E30

    Protein attributes for KDELR2 Gene

    Size:
    212 amino acids
    Molecular mass:
    24422 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KDELR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KDELR2 Gene

Proteomics data for KDELR2 Gene at MOPED

Post-translational modifications for KDELR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KDELR2 Gene

No data available for DME Specific Peptides for KDELR2 Gene

Domains & Families for KDELR2 Gene

Protein Domains for KDELR2 Gene

Suggested Antigen Peptide Sequences for KDELR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P33947

UniProtKB/Swiss-Prot:

ERD22_HUMAN :
  • Belongs to the ERD2 family.
Family:
  • Belongs to the ERD2 family.
genes like me logo Genes that share domains with KDELR2: view

No data available for Gene Families for KDELR2 Gene

Function for KDELR2 Gene

Molecular function for KDELR2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Phenotypes for KDELR2 Gene

genes like me logo Genes that share phenotypes with KDELR2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KDELR2 Gene

Localization for KDELR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDELR2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KDELR2 Gene COMPARTMENTS Subcellular localization image for KDELR2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KDELR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,TAS 1316805
GO:0016021 integral component of membrane IEA --
GO:0030133 transport vesicle TAS --
genes like me logo Genes that share ontologies with KDELR2: view

Pathways & Interactions for KDELR2 Gene

genes like me logo Genes that share pathways with KDELR2: view

Gene Ontology (GO) - Biological Process for KDELR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006621 protein retention in ER lumen IEA --
genes like me logo Genes that share ontologies with KDELR2: view

No data available for SIGNOR curated interactions for KDELR2 Gene

Drugs & Compounds for KDELR2 Gene

No Compound Related Data Available

Transcripts for KDELR2 Gene

Unigene Clusters for KDELR2 Gene

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KDELR2 Gene

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

Relevant External Links for KDELR2 Gene

GeneLoc Exon Structure for
KDELR2
ECgene alternative splicing isoforms for
KDELR2

Expression for KDELR2 Gene

mRNA expression in normal human tissues for KDELR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KDELR2 Gene

This gene is overexpressed in Fetal gut (25.0), Urine (10.4), and Liver (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KDELR2 Gene



SOURCE GeneReport for Unigene cluster for KDELR2 Gene Hs.654552

genes like me logo Genes that share expression patterns with KDELR2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for KDELR2 Gene

Orthologs for KDELR2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KDELR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KDELR2 35
  • 93.55 (n)
  • 98.58 (a)
KDELR2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KDELR2 35
  • 92.92 (n)
  • 98.58 (a)
KDELR2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kdelr2 35
  • 90.57 (n)
  • 98.58 (a)
Kdelr2 16
Kdelr2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kdelr2 35
  • 90.88 (n)
  • 98.58 (a)
oppossum
(Monodelphis domestica)
Mammalia KDELR2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KDELR2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves KDELR2 35
  • 85.85 (n)
  • 95.75 (a)
KDELR2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KDELR2 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdelr1 35
  • 81.76 (n)
  • 92.92 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
kdelr2b 35
  • 78.14 (n)
  • 93.4 (a)
kdelr2a 36
  • 91 (a)
OneToMany
kdelr2b 36
  • 93 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta KdelR 37
  • 74 (a)
KdelR 36
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C28H8.4 37
  • 66 (a)
erd-2 35
  • 62.8 (n)
  • 66.67 (a)
C28H8.4 36
  • 64 (a)
ManyToMany
erd-2 36
  • 64 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERD2 36
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ERD2B 35
  • 58.1 (n)
  • 54.29 (a)
rice
(Oryza sativa)
Liliopsida Os11g0473000 35
  • 57.78 (n)
  • 55.24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 87 (a)
ManyToMany
-- 36
  • 87 (a)
ManyToMany
Species with no ortholog for KDELR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KDELR2 Gene

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

Paralogs for KDELR2 Gene

Paralogs for KDELR2 Gene

(2) SIMAP similar genes for KDELR2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KDELR2: view

Variants for KDELR2 Gene

Sequence variations from dbSNP and Humsavar for KDELR2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs870433 -- 6,475,960(+) AGGCT(G/T)GAGTG intron-variant
rs940243 -- 6,475,714(+) GACGC(A/G)AACTA intron-variant
rs1054401 -- 6,461,788(-) GATAC(A/C)CCATA utr-variant-3-prime
rs1055413 -- 6,461,151(-) GCCAC(A/G)CCTTA utr-variant-3-prime
rs1055591 -- 6,461,181(-) TCGCC(A/G/T)GCGTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KDELR2 Gene

Variant ID Type Subtype PubMed ID
nsv436904 CNV Insertion 17901297
nsv7392 OTHER Inversion 18451855
esv1914954 OTHER Inversion 16254605
nsv830895 CNV Loss 17160897
esv2733928 CNV Deletion 23290073
dgv7147n71 CNV Loss 21882294

Variation tolerance for KDELR2 Gene

Residual Variation Intolerance Score: 30.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.49% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KDELR2 Gene

Disorders for KDELR2 Gene

Relevant External Links for KDELR2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KDELR2

No disorders were found for KDELR2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KDELR2 Gene

Publications for KDELR2 Gene

  1. A brefeldin A-like phenotype is induced by the overexpression of a human ERD-2-like protein, ELP-1. (PMID: 1316805) Hsu V.W. … Klausner R.D. (Cell 1992) 2 3 4 23 67
  2. Sequence of a second human KDEL receptor. (PMID: 1325562) Lewis M.J. … Pelham H.R.B. (J. Mol. Biol. 1992) 2 3
  3. Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. (PMID: 25248455) Ek W.E. … D'Amato M. (Gut 2015) 3
  4. Phosphorylation of Elp1 by Hrr25 is required for elongator-dependent tRNA modification in yeast. (PMID: 25569479) Abdel-Fattah W. … Stark M.J. (PLoS Genet. 2015) 3
  5. A Golgi-based KDELR-dependent signalling pathway controls extracellular matrix degradation. (PMID: 25682866) Ruggiero C. … Sallese M. (Oncotarget 2015) 3

Products for KDELR2 Gene

Sources for KDELR2 Gene

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