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

Gene ID: 55741, updated on 2-Nov-2024

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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35115364..35147336, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36836129..36868105, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr20:33586565-33587064 Neighboring gene microRNA 499a Neighboring gene microRNA 499b Neighboring gene MPRA-validated peak4198 silencer Neighboring gene transient receptor potential cation channel subfamily C member 4 associated protein Neighboring gene RNA, U6 small nuclear 407, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17773 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:33678296-33678855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689161-33689662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689663-33690162 Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene small nucleolar RNA SNORD56 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:33721175-33722374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33734321-33734924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33761988-33762690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33763393-33764095 Neighboring gene protein C receptor Neighboring gene RNA, 5S ribosomal pseudogene 483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33803863-33804362 Neighboring gene metallothionein 1 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Clone Names

  • FLJ10783, FLJ60292

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
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/TrEMBL
    B4DQG9
    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
    B4DTG9, Q6GU33, Q6IA89, Q6UWZ4, Q9BV94, Q9H4U0, Q9H886, Q9NTL9, Q9NVE6
    UniProtKB/TrEMBL
    B4DQG9
    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: GCF_000001405.40-RS_2024_08

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)