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KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 [ Homo sapiens (human) ]

Gene ID: 11014, updated on 25-Nov-2021

Summary

Official Symbol
KDELR2provided by HGNC
Official Full Name
KDEL endoplasmic reticulum protein retention receptor 2provided by HGNC
Primary source
HGNC:HGNC:6305
See related
Ensembl:ENSG00000136240 MIM:609024
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ELP1; OI21; ELP-1; ERD2.2
Summary
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]
Expression
Ubiquitous expression in placenta (RPKM 79.8), stomach (RPKM 78.5) and 25 other tissues See more
Orthologs
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Genomic context

See KDELR2 in Genome Data Viewer
Location:
7p22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (6461089..6484152, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6500720..6523783, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Rac family small GTPase 1 Neighboring gene diacylglycerol lipase beta Neighboring gene ribosomal protein L31 pseudogene 34 Neighboring gene uncharacterized LOC101927325 Neighboring gene Grid2 interacting protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
GeneReviews: Not available
Osteogenesis imperfecta, type 21
MedGen: C5436875 OMIM: 619131 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: DAGLB

Homology

Clone Names

  • FLJ45532

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ER retention sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables KDEL sequence binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with COPI-coated vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
is_active_in cis-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in transport vesicle TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ER lumen protein-retaining receptor 2
Names
(Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
ERD-2-like protein
ERD2-like protein 1
KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
KDEL receptor 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001100603.2NP_001094073.1  ER lumen protein-retaining receptor 2 isoform 2

    See identical proteins and their annotated locations for NP_001094073.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC072052, AK124072, BC071982
    Consensus CDS
    CCDS43550.1
    UniProtKB/Swiss-Prot
    P33947
    Related
    ENSP00000420501.1, ENST00000490996.1
    Conserved Domains (1) summary
    pfam00810
    Location:28119
    ER_lumen_recept; ER lumen protein retaining receptor
  2. NM_006854.4NP_006845.1  ER lumen protein-retaining receptor 2 isoform 1

    See identical proteins and their annotated locations for NP_006845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC072052, AK124072, AL547016, DA713413
    Consensus CDS
    CCDS5351.1
    UniProtKB/Swiss-Prot
    P33947
    UniProtKB/TrEMBL
    A0A024QZT7
    Related
    ENSP00000258739.4, ENST00000258739.9
    Conserved Domains (1) summary
    pfam00810
    Location:28169
    ER_lumen_recept; ER lumen protein retaining receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    6461089..6484152 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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