Free for academic non-profit institutions. Other users need a Commercial license

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 Activation of cAMP-Dependent PKA and Vesicle-mediated transport. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G006481 1.1 ENCODE 18.2 +0.6 587 4.4 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS ZHX2 SMARCB1 ZNF316 KDELR2 C7orf26 ANKRD61 USP42 GRID2IP DAGLB GC07M006445
GH07G006441 1.6 Ensembl ENCODE dbSUPER 12.5 +40.5 40482 3.8 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS NFYC ZHX2 DAGLB ZNF316 C7orf26 USP42 ANKRD61 KDELR2 RAC1 ZNF815P ZDHHC4 GC07M006445
GH07G006502 1.2 Ensembl ENCODE 16.5 -19.8 -19772 2.6 PKNOX1 MLX SIN3A ARID4B ZBTB7B TCF12 ZNF121 GLIS2 ZNF143 SP3 KDELR2 GRID2IP LOC101927325 RPL31P34
GH07G006446 1.4 ENCODE dbSUPER 12.5 +35.5 35458 4.4 MLX CREB3L1 ZFP64 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 ZNF610 GLIS1 DAGLB ZNF316 ENSG00000198580 C7orf26 ENSG00000228010 ANKRD61 KDELR2 CCZ1 USP42 RAC1
GH07G006476 0.9 ENCODE 17.9 +7.4 7418 0.2 HDAC1 ELF3 RB1 KLF17 ARID4B ZSCAN9 ZNF48 ZNF2 RAD21 ZNF143 KDELR2 ZDHHC4 DAGLB GC07M006445
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000208231 642 2001 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS ZHX2 SMARCB1 ZNF592

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

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.

Gene Ontology (GO) - Molecular Function for KDELR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005046 KDEL sequence binding TAS 1316805
GO:0046923 ER retention sequence binding IEA --
genes like me logo Genes that share ontologies with KDELR2: view
genes like me logo Genes that share phenotypes with KDELR2: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KDELR2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 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:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA,TAS 1316805
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus TAS 1316805
GO:0005801 cis-Golgi network IEA --
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 --
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport TAS 1325562
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with KDELR2: view

No data available for SIGNOR curated interactions for KDELR2 Gene

Transcripts for KDELR2 Gene

Unigene Clusters for KDELR2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KDELR2 Gene



NURSA nuclear receptor signaling pathways regulating expression of KDELR2 Gene:

KDELR2

SOURCE GeneReport for Unigene cluster for KDELR2 Gene:

Hs.654552

Evidence on tissue expression from TISSUES for KDELR2 Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Intestine(3)
  • Kidney(2.2)
  • Liver(2.2)
  • Stomach(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with KDELR2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
platypus
(Ornithorhynchus anatinus)
Mammalia KDELR2 35
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KDELR2 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KDELR2 34 35
  • 93.55 (n)
dog
(Canis familiaris)
Mammalia KDELR2 34 35
  • 92.92 (n)
rat
(Rattus norvegicus)
Mammalia Kdelr2 34
  • 90.88 (n)
mouse
(Mus musculus)
Mammalia Kdelr2 34 16 35
  • 90.57 (n)
chicken
(Gallus gallus)
Aves KDELR2 34 35
  • 85.85 (n)
lizard
(Anolis carolinensis)
Reptilia KDELR2 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdelr1 34
  • 81.76 (n)
zebrafish
(Danio rerio)
Actinopterygii kdelr2a 35
  • 91 (a)
OneToMany
kdelr2b 34 35
  • 78.14 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta KdelR 36 35
  • 74 (a)
worm
(Caenorhabditis elegans)
Secernentea C28H8.4 36 35
  • 66 (a)
erd-2 34 35
  • 62.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERD2 35
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ERD2B 34
  • 58.1 (n)
rice
(Oryza sativa)
Liliopsida Os11g0473000 34
  • 57.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 87 (a)
ManyToMany
-- 35
  • 87 (a)
ManyToMany
Species where no ortholog for KDELR2 was found in the sources mined by GeneCards:
  • 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
rs1000038533 -- 6,461,193(+) GATGA(A/G)GCCCA utr-variant-3-prime
rs1000260888 -- 6,476,769(+) AGCAC(A/G)TAAGG intron-variant
rs1000289132 -- 6,466,668(+) GTAGG(A/G)GCCCT intron-variant
rs1000317508 -- 6,471,399(+) GGTCT(C/T)GAACT intron-variant
rs1000347057 -- 6,471,075(+) TCTCG(C/T)CACTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv1914954 OTHER inversion 16254605
esv2733928 CNV deletion 23290073
esv3612031 CNV loss 21293372
nsv1020236 CNV gain 25217958
nsv1026878 CNV loss 25217958
nsv1074480 CNV deletion 25765185
nsv1128298 CNV deletion 24896259
nsv436904 CNV insertion 17901297
nsv7392 OTHER inversion 18451855
nsv830895 CNV loss 17160897

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)

Relevant External Links for KDELR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KDELR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 64
  2. Sequence of a second human KDEL receptor. (PMID: 1325562) Lewis M.J. … Pelham H.R.B. (J. Mol. Biol. 1992) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64

Products for KDELR2 Gene

Sources for KDELR2 Gene

Content
Loading form....