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] See more...

Aliases for EDEM2 Gene

Aliases for EDEM2 Gene

  • ER Degradation Enhancing Alpha-Mannosidase Like Protein 2 2 3 5
  • ER Degradation-Enhancing Alpha-Mannosidase-Like Protein 2 3 4
  • ER Degradation Enhancer, Mannosidase Alpha-Like 2 2 3
  • C20orf31 3 4
  • C20orf49 3 4
  • ER Degradation-Enhancing-Mannosidase-Like Protein 2 3
  • ER Degradation-Enhancing Alpha-Mannosidase-Like 2 3
  • Chromosome 20 Open Reading Frame 31 2
  • BA4204.1 3

External Ids for EDEM2 Gene

Previous HGNC Symbols for EDEM2 Gene

  • C20orf49
  • C20orf31

Previous GeneCards Identifiers for EDEM2 Gene

  • GC20M033167
  • GC20M033703
  • GC20M030481

Summaries for EDEM2 Gene

Entrez Gene Summary for EDEM2 Gene

  • 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]

GeneCards Summary for EDEM2 Gene

EDEM2 (ER Degradation Enhancing Alpha-Mannosidase Like Protein 2) is a Protein Coding gene. Diseases associated with EDEM2 include Epiphyseal Dysplasia, Multiple, 3. Among its related pathways are Metabolism of proteins and Calnexin/calreticulin cycle. Gene Ontology (GO) annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is EDEM1.

UniProtKB/Swiss-Prot Summary for EDEM2 Gene

  • Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity).

Gene Wiki entry for EDEM2 Gene

Additional gene information for EDEM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EDEM2 Gene

Genomics for EDEM2 Gene

GeneHancer (GH) Regulatory Elements for EDEM2 Gene

Promoters and enhancers for EDEM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDEM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDEM2

Top Transcription factor binding sites by QIAGEN in the EDEM2 gene promoter:
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6
  • YY1

Genomic Locations for EDEM2 Gene

Genomic Locations for EDEM2 Gene
chr20:35,115,357-35,147,358
(GRCh38/hg38)
Size:
32,002 bases
Orientation:
Minus strand
chr20:33,703,160-33,865,928
(GRCh37/hg19)
Size:
162,769 bases
Orientation:
Minus strand

Genomic View for EDEM2 Gene

Genes around EDEM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDEM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDEM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDEM2 Gene

Proteins for EDEM2 Gene

  • Protein details for EDEM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV94-EDEM2_HUMAN
    Recommended name:
    ER degradation-enhancing alpha-mannosidase-like protein 2
    Protein Accession:
    Q9BV94
    Secondary Accessions:
    • B4DTG9
    • Q6GU33
    • Q6IA89
    • Q6UWZ4
    • Q9H4U0
    • Q9H886
    • Q9NTL9
    • Q9NVE6

    Protein attributes for EDEM2 Gene

    Size:
    578 amino acids
    Molecular mass:
    64753 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EDEM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDEM2 Gene

Post-translational modifications for EDEM2 Gene

Other Protein References for EDEM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EDEM2 Gene

Domains & Families for EDEM2 Gene

Gene Families for EDEM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EDEM2 Gene

Blocks:
  • Glycosyl hydrolase family 47 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EDEM2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61531, highly similar to ER degradation-enhancingalpha-mannosidase-like 2 (B4E1F4_HUMAN)
  • ER degradation-enhancing alpha-mannosidase-like 2 (EDEM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BV94

UniProtKB/Swiss-Prot:

EDEM2_HUMAN :
  • Belongs to the glycosyl hydrolase 47 family.
Family:
  • Belongs to the glycosyl hydrolase 47 family.
genes like me logo Genes that share domains with EDEM2: view

Function for EDEM2 Gene

Molecular function for EDEM2 Gene

UniProtKB/Swiss-Prot Function:
Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity).

Phenotypes From GWAS Catalog for EDEM2 Gene

Gene Ontology (GO) - Molecular Function for EDEM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA,IMP 25092655
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EDEM2: view
genes like me logo Genes that share phenotypes with EDEM2: view

Animal Model Products

CRISPR Products

miRNA for EDEM2 Gene

miRTarBase miRNAs that target EDEM2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EDEM2 Gene

Localization for EDEM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDEM2 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDEM2 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
lysosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EDEM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 15537790
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0016020 membrane IEA --
GO:0044322 endoplasmic reticulum quality control compartment TAS --
genes like me logo Genes that share ontologies with EDEM2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EDEM2 Gene

Pathways & Interactions for EDEM2 Gene

genes like me logo Genes that share pathways with EDEM2: view

Gene Ontology (GO) - Biological Process for EDEM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein IEA --
GO:0036509 trimming of terminal mannose on B branch TAS --
GO:0036510 trimming of terminal mannose on C branch TAS --
GO:0036511 trimming of first mannose on A branch TAS --
GO:0036512 trimming of second mannose on A branch TAS --
genes like me logo Genes that share ontologies with EDEM2: view

No data available for SIGNOR curated interactions for EDEM2 Gene

Drugs & Compounds for EDEM2 Gene

No Compound Related Data Available

Transcripts for EDEM2 Gene

mRNA/cDNA for EDEM2 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDEM2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - -
SP10: -
SP11: - - - - - -
SP12:

Relevant External Links for EDEM2 Gene

GeneLoc Exon Structure for
EDEM2

Expression for EDEM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EDEM2 Gene

mRNA differential expression in normal tissues according to GTEx for EDEM2 Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for EDEM2 Gene

This gene is overexpressed in Bone (42.1), Pancreas (12.3), and Placenta (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EDEM2 Gene



Protein tissue co-expression partners for EDEM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDEM2

SOURCE GeneReport for Unigene cluster for EDEM2 Gene:

Hs.720177

mRNA Expression by UniProt/SwissProt for EDEM2 Gene:

Q9BV94-EDEM2_HUMAN
Tissue specificity: Expressed ubiquitously in all tissues tested with slightly higher levels detected in small intestine and peripheral blood leukocytes and weakest levels in brain and skeletal muscle.

Evidence on tissue expression from TISSUES for EDEM2 Gene

  • Skin(4.4)
  • Intestine(4.3)
  • Thyroid gland(4.2)
  • Lung(3.1)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with EDEM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for EDEM2 Gene

Orthologs for EDEM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EDEM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDEM2 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EDEM2 31 30
  • 91.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EDEM2 31 30
  • 91.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edem2 30
  • 89.76 (n)
mouse
(Mus musculus)
Mammalia Edem2 17 31 30
  • 88.83 (n)
oppossum
(Monodelphis domestica)
Mammalia EDEM2 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDEM2 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDEM2 31 30
  • 75.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDEM2 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edem2 30
  • 72.65 (n)
zebrafish
(Danio rerio)
Actinopterygii edem2 31 30
  • 69.83 (n)
OneToOne
4931415M17 30
fruit fly
(Drosophila melanogaster)
Insecta Edem1 31 30
  • 59.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012463 30
  • 58.45 (n)
worm
(Caenorhabditis elegans)
Secernentea F10C2.5 31 30
  • 56.59 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNL1 31
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G43710 30
  • 52.95 (n)
rice
(Oryza sativa)
Liliopsida Os01g0773600 30
  • 54.36 (n)
Os.17630 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Species where no ortholog for EDEM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EDEM2 Gene

ENSEMBL:
Gene Tree for EDEM2 (if available)
TreeFam:
Gene Tree for EDEM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EDEM2: view image

Paralogs for EDEM2 Gene

Paralogs for EDEM2 Gene

(2) SIMAP similar genes for EDEM2 Gene using alignment to 4 proteins:

  • EDEM2_HUMAN
  • B4E1F4_HUMAN
  • F5GZ44_HUMAN
  • G3V1Q0_HUMAN
genes like me logo Genes that share paralogs with EDEM2: view

Variants for EDEM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDEM2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1052056 - p.Leu556Phe
rs3746429 - p.Ala456Thr
rs6060248 - p.Arg510Gln

Additional dbSNP identifiers (rs#s) for EDEM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EDEM2 Gene

Variant ID Type Subtype PubMed ID
esv1987108 CNV deletion 18987734
esv2480993 CNV deletion 19546169
esv2658915 CNV deletion 23128226
esv3557028 CNV deletion 23714750
esv3645709 CNV loss 21293372
esv3645710 CNV loss 21293372
esv3645711 CNV loss 21293372

Variation tolerance for EDEM2 Gene

Residual Variation Intolerance Score: 28.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.96; 59.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDEM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDEM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDEM2 Gene

Disorders for EDEM2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EDEM2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epiphyseal dysplasia, multiple, 3
  • edm3
- elite association - COSMIC cancer census association via MalaCards
Search EDEM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EDEM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EDEM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDEM2 Gene

Publications for EDEM2 Gene

  1. A novel stress-induced EDEM variant regulating endoplasmic reticulum-associated glycoprotein degradation. (PMID: 15579471) Olivari S … Molinari M (The Journal of biological chemistry 2005) 2 3 23 54
  2. Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins. (PMID: 15537790) Mast SW … Moremen KW (Glycobiology 2005) 2 3 4 54
  3. EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step. (PMID: 25092655) Ninagawa S … Mori K (The Journal of cell biology 2014) 3 4 54
  4. Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. (PMID: 20802025) Tang W … Folsom AR (Blood 2010) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for EDEM2 Gene

Sources for EDEM2 Gene

  • (61)