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EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 [ Homo sapiens (human) ]

Gene ID: 55741, updated on 1-Oct-2022

Summary

Official Symbol
EDEM2provided by HGNC
Official Full Name
ER degradation enhancing alpha-mannosidase like protein 2provided by HGNC
Primary source
HGNC:HGNC:15877
See related
Ensembl:ENSG00000088298 MIM:610302; AllianceGenome:HGNC:15877
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C20orf31; C20orf49; bA4204.1
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]
Expression
Ubiquitous expression in placenta (RPKM 13.1), lung (RPKM 12.7) and 25 other tissues See more
Orthologs
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Genomic context

See EDEM2 in Genome Data Viewer
Location:
20q11.22
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35115364..35147336, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36836129..36868105, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33703167..33735139, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain 7B Neighboring gene microRNA 499a Neighboring gene microRNA 499b Neighboring gene transient receptor potential cation channel subfamily C member 4 associated protein Neighboring gene RNA, U6 small nuclear 407, pseudogene Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene small nucleolar RNA SNORD56 Neighboring gene protein C receptor Neighboring gene RNA, 5S ribosomal pseudogene 483 Neighboring gene metallothionein 1 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
EBI GWAS Catalog
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough MMP24-AS1-EDEM2

Readthrough gene: MMP24-AS1-EDEM2, Included gene: MMP24OS

Homology

Clone Names

  • FLJ10783, FLJ60292

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in endoplasmic reticulum mannose trimming IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mannose trimming involved in glycoprotein ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mannose trimming involved in glycoprotein ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of retrograde protein transport, ER to cytosol IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to unfolded protein IEA
Inferred from Electronic Annotation
more info
 
involved_in trimming of first mannose on A branch TAS
Traceable Author Statement
more info
 
involved_in trimming of second mannose on A branch TAS
Traceable Author Statement
more info
 
involved_in trimming of terminal mannose on B branch IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in trimming of terminal mannose on B branch TAS
Traceable Author Statement
more info
 
involved_in trimming of terminal mannose on C branch TAS
Traceable Author Statement
more info
 
involved_in ubiquitin-dependent glycoprotein ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in viral protein processing TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum quality control compartment TAS
Traceable Author Statement
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ER degradation-enhancing alpha-mannosidase-like protein 2
Names
ER degradation enhancer, mannosidase alpha-like 2
ER degradation-enhancing alpha-mannosidase-like 2
ER degradation-enhancing-mannosidase-like protein 2
NP_001138497.1
NP_060687.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145025.2NP_001138497.1  ER degradation-enhancing alpha-mannosidase-like protein 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001138497.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region compared to variant 1 although maintains the reading frame. The encoded protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AY358580, BP297100, BU188881
    Consensus CDS
    CCDS46592.1
    UniProtKB/Swiss-Prot
    Q9BV94
    Related
    ENSP00000363615.2, ENST00000374491.3
    Conserved Domains (1) summary
    pfam01532
    Location:36443
    Glyco_hydro_47; Glycosyl hydrolase family 47
  2. NM_018217.3NP_060687.2  ER degradation-enhancing alpha-mannosidase-like protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_060687.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC001371, BP297100, BU188881
    Consensus CDS
    CCDS13247.1
    UniProtKB/Swiss-Prot
    Q9BV94, Q9NVE6
    Related
    ENSP00000363616.3, ENST00000374492.8
    Conserved Domains (1) summary
    pfam01532
    Location:42480
    Glyco_hydro_47; Glycosyl hydrolase family 47

RNA

  1. NR_026728.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks the alternate splicing in the 5' coding region observed in variant 1. This variant is represented as non-coding because the use of the expected translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK298794, AL356652, BU188881

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    35115364..35147336 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    36836129..36868105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)