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 ... See more...

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
  • ER Lumen Protein-Retaining Receptor 2 3 4
  • 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
  • ERD-2-Like Protein 3

External Ids for KDELR2 Gene

Previous GeneCards Identifiers for KDELR2 Gene

  • GC07M006146
  • GC07M006246
  • GC07M006275
  • GC07M006467
  • GC07M006485

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 Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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 Summary for KDELR2 Gene

  • Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum (PubMed:1325562, PubMed:18086916). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity).

Gene Wiki entry for KDELR2 Gene

Additional gene information for KDELR2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KDELR2 Gene

Genomics for KDELR2 Gene

GeneHancer (GH) Regulatory Elements for KDELR2 Gene

Promoters and enhancers for KDELR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KDELR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KDELR2

Top Transcription factor binding sites by QIAGEN in the KDELR2 gene promoter:
  • C/EBPbeta
  • CREB
  • deltaCREB
  • FOXD1
  • Hlf
  • Max1
  • MRF-2
  • MyoD
  • RORalpha1
  • Sp1

Genomic Locations for KDELR2 Gene

Genomic Locations for KDELR2 Gene
chr7:6,445,953-6,484,218
(GRCh38/hg38)
Size:
38,266 bases
Orientation:
Minus strand
chr7:6,485,584-6,523,873
(GRCh37/hg19)
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

Gene Families for KDELR2 Gene

Protein Domains for KDELR2 Gene

Blocks:
  • ER lumen protein retaining receptor
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KDELR2 Gene

GenScript: Design optimal peptide antigens:
  • KDEL endoplasmic reticulum protein retention receptor 2 (ERD22_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P33947

UniProtKB/Swiss-Prot:

ERD22_HUMAN :
  • Binds the C-terminal sequence motif K-D-E-L in a hydrophilic cavity between the transmembrane domains. This triggers a conformation change that exposes a Lys-rich patch on the cytosolic surface of the protein (By similarity). This patch mediates recycling from the Golgi to the endoplasmic reticulum, probably via COPI vesicles (By similarity).
  • Belongs to the ERD2 family.
Domain:
  • Binds the C-terminal sequence motif K-D-E-L in a hydrophilic cavity between the transmembrane domains. This triggers a conformation change that exposes a Lys-rich patch on the cytosolic surface of the protein (By similarity). This patch mediates recycling from the Golgi to the endoplasmic reticulum, probably via COPI vesicles (By similarity).
Family:
  • Belongs to the ERD2 family.
genes like me logo Genes that share domains with KDELR2: view

Function for KDELR2 Gene

Molecular function for KDELR2 Gene

UniProtKB/Swiss-Prot Function:
Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum (PubMed:1325562, PubMed:18086916). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity).
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

Phenotypes From GWAS Catalog for KDELR2 Gene

Gene Ontology (GO) - Molecular Function for KDELR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005046 KDEL sequence binding IDA 1325562
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

CRISPR Products

Clone 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. Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic vesicle, COPI-coated vesicle membrane; Multi-pass membrane protein. Note=Localized in the Golgi in the absence of bound proteins with the sequence motif K-D-E-L. Trafficks back to the endoplasmic reticulum together with cargo proteins containing the sequence motif K-D-E-L. {ECO:0000269 PubMed:1325562, ECO:0000305 PubMed:18086916}.

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
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 2
extracellular 2
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
mitochondrion 0

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,IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0005801 cis-Golgi network IBA 21873635
genes like me logo Genes that share ontologies with KDELR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KDELR2 Gene

Pathways & Interactions for KDELR2 Gene

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

Pathways by source for KDELR2 Gene

2 GeneGo (Thomson Reuters) pathways for KDELR2 Gene
  • Signal transduction cAMP signaling
  • Signal transduction_PKA signaling
4 Qiagen pathways for KDELR2 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • cAMP Pathway
  • PKA Signaling

Gene Ontology (GO) - Biological Process for KDELR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006621 protein retention in ER lumen IBA,IEA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport IBA 21873635
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport 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

mRNA/cDNA for KDELR2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for KDELR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for KDELR2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.9)
  • Kidney(2.2)
  • Liver(2.2)
  • Stomach(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with KDELR2: view

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 31
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KDELR2 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KDELR2 31 30
  • 93.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KDELR2 31 30
  • 92.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kdelr2 30
  • 90.88 (n)
mouse
(Mus musculus)
Mammalia Kdelr2 17 31 30
  • 90.57 (n)
chicken
(Gallus gallus)
Aves KDELR2 31 30
  • 85.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KDELR2 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdelr1 30
  • 81.76 (n)
zebrafish
(Danio rerio)
Actinopterygii kdelr2a 31
  • 91 (a)
OneToMany
kdelr2b 31 30
  • 78.14 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta KdelR 31 32
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C28H8.4 31 32
  • 64 (a)
ManyToMany
erd-2 31 30
  • 62.8 (n)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERD2 31
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ERD2B 30
  • 58.1 (n)
rice
(Oryza sativa)
Liliopsida Os11g0473000 30
  • 57.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 87 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KDELR2: view image

Paralogs for KDELR2 Gene

Paralogs for KDELR2 Gene

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

  • ERD22_HUMAN
  • H7BYF7_HUMAN
genes like me logo Genes that share paralogs with KDELR2: view

Variants for KDELR2 Gene

Additional dbSNP identifiers (rs#s) for KDELR2 Gene

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)

Additional Variant Information for KDELR2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KDELR2 Gene

Disorders for KDELR2 Gene

Additional Disease Information for 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 VW … Klausner RD (Cell 1992) 2 3 4 23 54
  2. Sequence of a second human KDEL receptor. (PMID: 1325562) Lewis MJ … Pelham HR (Journal of molecular biology 1992) 2 3 4 54
  3. A molecular specificity code for the three mammalian KDEL receptors. (PMID: 18086916) Raykhel I … Ruddock L (The Journal of cell biology 2007) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for KDELR2 Gene

Sources for KDELR2 Gene