• Gene id: 55741

Gene Summary

• Gene Symbol: EDEM2   Gene   UCSC   Ensembl
• Aliases: C20orf31, C20orf49, bA4204.1
• Gene name: ER degradation enhancing alpha-mannosidase like protein 2
• Alternate names: ER degradation-enhancing alpha-mannosidase-like protein 2, ER degradation enhancer, mannosidase alpha-like 2, ER degradation-enhancing alpha-mannosidase-like 2, ER degradation-enhancing-mannosidase-like protein 2,
• Gene location: 20q11.22 (35147335: 35115363)     Exons: 11     NC_000020.11
• Gene summary(Entrez): In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast
• OMIM: 610302

Protein Summary

• Protein general information: Q9BV94  
  • Name: ER degradation enhancing alpha mannosidase like protein 2
  • Length: 578  
  • Mass: 64753
  • Tissue specificity: Expressed ubiquitously in all tissues tested with slightly higher levels detected in small intestine and peripheral blood leukocytes and weakest levels in brain and skeletal muscle. {ECO
• Sequence:

  MPFRLLIPLGLLCALLPQHHGAPGPDGSAPDPAHYRERVKAMFYHAYDSYLENAFPFDELRPLTCDGHDTWGSFS
  LTLIDALDTLLILGNVSEFQRVVEVLQDSVDFDIDVNASVFETNIRVVGGLLSAHLLSKKAGVEVEAGWPCSGPL
  LRMAEEAARKLLPAFQTPTGMPYGTVNLLHGVNPGETPVTCTAGIGTFIVEFATLSSLTGDPVFEDVARVALMRL
  WESRSDIGLVGNHIDVLTGKWVAQDAGIGAGVDSYFEYLVKGAILLQDKKLMAMFLEYNKAIRNYTRFDDWYLWV
  QMYKGTVSMPVFQSLEAYWPGLQSLIGDIDNAMRTFLNYYTVWKQFGGLPEFYNIPQGYTVEKREGYPLRPELIE
  SAMYLYRATGDPTLLELGRDAVESIEKISKVECGFATIKDLRDHKLDNRMESFFLAETVKYLYLLFDPTNFIHNN
  GSTFDAVITPYGECILGAGGYIFNTEAHPIDPAALHCCQRLKEEQWEVEDLMREFYSLKRSRSKFQKNTVSSGPW
  EPPARPGTLFSPENHDQARERKPAKQKVPLLSCPSQPFTSKLALLGQVFLDSS

• Structural information:
  • Interpro: IPR012341  IPR001382  IPR036026  
  • STRING: ENSP00000363616
• Other Databases: GeneCards:  EDEM2  Malacards:  EDEM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	molecular function
GO:1904154	positive regulation of retrograde protein transport, ER to cytosol	IGI	biological process
GO:1904154	positive regulation of retrograde protein transport, ER to cytosol	IMP	biological process
GO:0036509	trimming of terminal mannose on B branch	IMP	biological process
GO:0097466	ubiquitin-dependent glycoprotein ERAD pathway	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0036509	trimming of terminal mannose on B branch	TAS	biological process
GO:0036510	trimming of terminal mannose on C branch	TAS	biological process
GO:0036511	trimming of first mannose on A branch	TAS	biological process
GO:0036512	trimming of second mannose on A branch	TAS	biological process
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:1904154	positive regulation of retrograde protein transport, ER to cytosol	IEA	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	NOT|molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq