KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)

Gene

• Entrez ID: 11014
• Gene name: KDEL endoplasmic reticulum protein retention receptor 2
• Gene symbol: KDELR2
• Synonyms: ELP-1, ELP1, ERD2.2, OI21
• Chromosome: 7
• Chromosome location: 7p22.1
• 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022164	hsa-miR-124-3p	Microarray	18668037
MIRT042919	hsa-miR-324-3p	CLASH	23622248
MIRT044224	hsa-miR-301a-3p	CLASH	23622248
MIRT048554	hsa-miR-100-5p	CLASH	23622248
MIRT050641	hsa-miR-19a-3p	CLASH	23622248
MIRT556820	hsa-miR-550a-3p	PAR-CLIP	21572407
MIRT556821	hsa-miR-200c-5p	PAR-CLIP	21572407
MIRT556822	hsa-miR-600	PAR-CLIP	21572407
MIRT556823	hsa-miR-1245b-3p	PAR-CLIP	21572407
MIRT556824	hsa-miR-4501	PAR-CLIP	21572407
MIRT556825	hsa-miR-5683	PAR-CLIP	21572407
MIRT556826	hsa-miR-513b-3p	PAR-CLIP	21572407

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	1325562, 18086916
GO:0000139	Component	Golgi membrane	TAS
GO:0005046	Function	KDEL sequence binding	IDA	1325562, 18086916
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	1325562, 18086916
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005801	Component	Cis-Golgi network	IBA	21873635
GO:0006621	Process	Protein retention in ER lumen	IBA	21873635
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	21873635
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IDA	1325562, 18086916
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016021	Component	Integral component of membrane	ISS
GO:0030133	Component	Transport vesicle	TAS
GO:0030663	Component	COPI-coated vesicle membrane	IDA	18086916
GO:0046923	Function	ER retention sequence binding	IBA	21873635

Other IDs

• MIM: 609024
• HGNC: 6305
• e!Ensembl: ENSG00000136240

Protein

• UniProt ID: P33947
• Protein name: ER lumen protein-retaining receptor 2 (ERD2-like protein 1) (ELP-1) (KDEL endoplasmic reticulum protein retention receptor 2) (KDEL receptor 2)
• Protein 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).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00810	ER_lumen_recept	28 → 169	ER lumen protein retaining receptor	Family

• Sequence:

  MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYN
  TSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPVGGLSFLVNHDFSPLEILW
  TFSIYLESVAILPQLFMISKTGEAETITTHYLFFLGLYRALYLVNWIWRFYFEGFFDLIA
  VVAGVVQTILYCDFFYLYITKVLKGKKLSLPA

• Sequence length: 212

Pathways

KEGG:

Vibrio cholerae infection

Reactome:

COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778