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:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15537790, 24200403
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0019082	Process	Viral protein processing	TAS
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0036503	Process	ERAD pathway	IMP	15537790, 25092655
GO:0044322	Component	Endoplasmic reticulum quality control compartment	TAS
GO:0097466	Process	Ubiquitin-dependent glycoprotein ERAD pathway	IBA
GO:1904154	Process	Positive regulation of retrograde protein transport, ER to cytosol	IEA
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:1904380	Process	Endoplasmic reticulum mannose trimming	IEA
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	18449908		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	30196971		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	30196971	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34332121	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	35755167	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Fibroids	Uterine Fibroids	BEFREE	30196971		★☆☆☆☆ Found in Text Mining only