EDEM3 - ER degradation enhancing alpha-mannosidase like protein 3 Gene

Homo sapiens

Also known as CDG2V; C1orf22

Gene ID: 80267 | Gene type: protein coding

About EDEM3

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:184,690,237-184,754,858 (from NCBI)

This gene has 18 transcripts (splice variants), 215 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in stomach (RPKM 15.9), colon (RPKM 13.5) and 25 other tissues.

Summary

Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]

EDEM3 Products(2)

mRNA	Protein	Name
NM_001319960.2	NP_001306889.1	ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 1 precursor
NM_025191.4	NP_079467.3	ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP IMP: Inferred from mutant phenotype	25092655	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	25092655	GOA
involved in mannoprotein catabolic process	IMP IMP: Inferred from mutant phenotype	25092655	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EDEM3 Protein Structure

Glyco_hydro_47

0
200
400
600
800
932 a.a.

Protein Preferred Names

Protein Names

ER degradation-enhancing alpha-mannosidase-like protein 3

ER degradation enhancer, mannosidase alpha-like 3

Related Diseases

Diseases

Alias

Congenital Disorder Of Glycosylation, Type 2v

CDG2V	Congenital Disorder Of Glycosylation, Type Iiv
Congenital Disorder Of Glycosylation 2v

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04159	EDEM3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EDEM3	RGD	RGD:1561496
Macaca mulatta	EDEM3	VGNC	VGNC:72055
Mus musculus	EDEM3	MGD	MGI:1914217
Bos taurus	EDEM3	VGNC	VGNC:28324
Canis familiaris	EDEM3	VGNC	VGNC:40196
Felis catus	EDEM3	VGNC	VGNC:61724

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