EDEM2 ER degradation enhancing alpha-mannosidase like protein 2
Gene ID: 55741, updated on 17-Jun-2024Gene type: protein coding
Also known as: C20orf31; C20orf49; bA4204.1
- See all available tests in GTR for this gene
- Go to complete Gene record for EDEM2
- Go to Variation Viewer for EDEM2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. GeneReviews: Not available | |
| Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. GeneReviews: Not available |
Genomic context
- Location:
- 20q11.22
- Sequence:
- Chromosome: 20; NC_000020.11 (35115364..35147336, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EDEM2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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