EDEM2 (ER degradation enhancing alpha-mannosidase like protein 2)

Gene

• Entrez ID: 55741
• Gene name: ER degradation enhancing alpha-mannosidase like protein 2
• Gene symbol: EDEM2
• Synonyms (NCBI Gene): C20orf31, C20orf49, bA4204.1
• Chromosome: 20
• Chromosome location: 20q11.22
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018881	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
XBP1	Unknown	15579471

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	15537790
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	25092655
GO:0005509	Function	Calcium ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15537790, 24200403
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0016020	Component	Membrane	IEA
GO:0036509	Process	Trimming of terminal mannose on B branch	IMP	25092655
GO:0036509	Process	Trimming of terminal mannose on B branch	TAS
GO:0036510	Process	Trimming of terminal mannose on C branch	TAS
GO:0036511	Process	Trimming of first mannose on A branch	TAS
GO:0036512	Process	Trimming of second mannose on A branch	TAS
GO:0044322	Component	Endoplasmic reticulum quality control compartment	TAS
GO:0097466	Process	Ubiquitin-dependent glycoprotein ERAD pathway	IMP	15537790
GO:1904154	Process	Positive regulation of retrograde protein transport, ER to cytosol	IGI	24200403
GO:1904154	Process	Positive regulation of retrograde protein transport, ER to cytosol	IMP	24200403
GO:1904382	Process	Mannose trimming involved in glycoprotein ERAD pathway	IMP	25092655

Other IDs

• MIM: 610302
• HGNC: 15877
• e!Ensembl: ENSG00000088298

Protein

• UniProt ID: Q9BV94
• Protein name: ER degradation-enhancing alpha-mannosidase-like protein 2
• Protein function: Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01532	Glyco_hydro_47	42 → 482	Glycosyl hydrolase family 47	Domain

• Tissue specificity: 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:0000269|PubMed:15537790}.
• Sequence:

  MPFRLLIPLGLLCALLPQHHGAPGPDGSAPDPAHYRERVKAMFYHAYDSYLENAFPFDEL
  RPLTCDGHDTWGSFSLTLIDALDTLLILGNVSEFQRVVEVLQDSVDFDIDVNASVFETNI
  RVVGGLLSAHLLSKKAGVEVEAGWPCSGPLLRMAEEAARKLLPAFQTPTGMPYGTVNLLH
  GVNPGETPVTCTAGIGTFIVEFATLSSLTGDPVFEDVARVALMRLWESRSDIGLVGNHID
  VLTGKWVAQDAGIGAGVDSYFEYLVKGAILLQDKKLMAMFLEYNKAIRNYTRFDDWYLWV
  QMYKGTVSMPVFQSLEAYWPGLQSLIGDIDNAMRTFLNYYTVWKQFGGLPEFYNIPQGYT
  VEKREGYPLRPELIESAMYLYRATGDPTLLELGRDAVESIEKISKVECGFATIKDLRDHK
  LDNRMESFFLAETVKYLYLLFDPTNFIHNNGSTFDAVITPYGECILGAGGYIFNTEAHPI
  DPAALHCCQRLKEEQWEVEDLMREFYSLKRSRSKFQKNTVSSGPWEPPARPGTLFSPENH
  DQARERKPAKQKVPLLSCPSQPFTSKLALLGQVFLDSS

• Sequence length: 578

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

ER Quality Control Compartment (ERQC)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	18449908
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21822266

Unknown
Disease term	Disease name	Evidence	References	Source
Coronary artery disease	Coronary artery disease			GWAS
Carcinoma	Carcinoma			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Leiomyoma	Associate	30196971
Melanoma	Associate	34332121
Mucocutaneous Lymph Node Syndrome	Associate	35755167
Neoplasms	Associate	34332121