• Gene id: 11014

Gene Summary

• Gene Symbol: KDELR2   Gene   UCSC   Ensembl
• Aliases: ELP-1, ERD2.2
• Gene name: KDEL endoplasmic reticulum protein retention receptor 2
• Alternate names: ER lumen protein-retaining receptor 2, (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,
• Gene location: 7p22.1 (6484151: 6461088)     Exons: 5     NC_000007.14
• Gene summary(Entrez): 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-ter
• OMIM: 609024

Protein Summary

• Protein general information: P33947  
  • Name: ER lumen protein retaining receptor 2 (ERD2 like protein 1) (ELP 1) (KDEL endoplasmic reticulum protein retention receptor 2) (KDEL receptor 2)
  • Length: 212  
  • Mass: 24422
• Sequence:

  MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATV
  YLIYLKFKATYDGNHDTFRVEFLVVPVGGLSFLVNHDFSPLEILWTFSIYLESVAILPQLFMISKTGEAETITTH
  YLFFLGLYRALYLVNWIWRFYFEGFFDLIAVVAGVVQTILYCDFFYLYITKVLKGKKLSLPA

• Structural information:
  • Interpro: IPR000133  
  • Prosite: PS00951 PS00952
  • STRING: ENSP00000258739
• Other Databases: GeneCards:  KDELR2  Malacards:  KDELR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006621	protein retention in ER lumen	IBA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005801	cis-Golgi network	IBA	cellular component
GO:0046923	ER retention sequence binding	IBA	molecular function
GO:0005046	KDEL sequence binding	IDA	molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005046	KDEL sequence binding	IDA	molecular function
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IDA	biological process
GO:0030663	COPI-coated vesicle membrane	IDA	colocalizes with
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IDA	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0046923	ER retention sequence binding	IEA	molecular function
GO:0006621	protein retention in ER lumen	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005801	cis-Golgi network	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0030663	COPI-coated vesicle membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05110	Vibrio cholerae infection

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray