Gene: EDEM2

Alternate names for this Gene: C20orf31|C20orf49|bA4204.1

Gene 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 et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: ER degradation enhancing alpha-mannosidase like protein 2

Type of Gene: protein-coding

Gene: MMP24-AS1-EDEM2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs1033799 in EDEM2;MMP24-AS1-EDEM2 gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

PMID 28082259 2017 Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).

rs1033799 in EDEM2;MMP24-AS1-EDEM2 gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

PMID 28082259 2017 Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).

rs2295888 in EDEM2;MMP24-AS1-EDEM2 gene and Prothrombin time assay PMID 22703881 2012 For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10(-56)) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10(-13)).