Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55741
Gene name Gene Name - the full gene name approved by the HGNC.	ER degradation enhancing alpha-mannosidase like protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EDEM2
Synonyms (NCBI Gene) Gene synonyms aliases	C20orf31, C20orf49, bA4204.1
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Transcription factors

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Transcription factor	Regulation	Reference
XBP1	Unknown	15579471

Show/Hide all(22)

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

MIM	HGNC	e!Ensembl
610302	15877	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

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		ER Quality Control Compartment (ERQC)

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

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

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