Gene Gene information from NCBI Gene database.
Entrez ID 80267
Gene name ER degradation enhancing alpha-mannosidase like protein 3
Gene symbol EDEM3
Synonyms (NCBI Gene)
C1orf22CDG2V
Chromosome 1
Chromosome location 1q25.3
Summary Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradatio
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs765435034 C>A Likely-pathogenic Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1558053119 A>C Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
929
miRTarBase ID miRNA Experiments Reference
MIRT005222 hsa-let-7b-5p pSILAC 18668040
MIRT005245 hsa-miR-155-5p pSILAC 18668040
MIRT018172 hsa-miR-335-5p Microarray 18185580
MIRT005245 hsa-miR-155-5p Proteomics;Other 18668040
MIRT021628 hsa-miR-142-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IBA
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP 25092655
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610214 16787 ENSG00000116406
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZQ6
Protein name ER degradation-enhancing alpha-mannosidase-like protein 3 (EC 3.2.1.113) (Alpha-1,2-mannosidase EDEM3)
Protein function Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans (PubMed:25092655). May also participate in mannose
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01532 Glyco_hydro_47 59 498 Glycosyl hydrolase family 47 Domain
PF02225 PA 677 775 PA domain Family
Sequence
MSEAGGRGCGSPVPQRARWRLVAATAAFCLVSATSVWTAGAEPMSREEKQKLGNQVLEMF
DHAYGNYMEHAYPADELMPLTCRGRVRGQEPSRGDVDDALGKFSLTLIDSLDTLVVLNKT
KEFEDAVRKVLRDVNLDNDVVVSVFETNIRVLGGLLGGHSLAIMLKEKGEYMQWYNDELL
QMAKQLGYKLLPAFNTTSGLPYPRINLKFGIRKPEARTGTETDTCTACAGTLILEFAALS
RFTGATIFEEYARKALDFLWEKRQRSSNLVGVTINIHTGDWVRKDSGVGAGIDSYYEYLL
KAYVLLGDDSFLERFNTHYDAIMRYISQPPLLLDVHIHKPMLNARTWMDALLAFFPGLQV
LKGDIRPAIETHEMLYQVIKKHNFLPEAFTTDFRVHWAQHPLRPEFAESTYFLYKATGDP
YYLEVGKTLIENLNKYARVPCGFAAMKDVRTGSHEDRMDSFFLAEMFKYLYLLFADKEDI
IFDIEDYIFTTEAHLLPL
WLSTTNQSISKKNTTSEYTELDDSNFDWTCPNTQILFPNDPL
YAQSIREPLKNVVDKSCPRGIIRVEESFRSGAKPPLRARDFMATNPEHLEILKKMGVSLI
HLKDGRVQLVQHAIQAASSIDAEDGLRFMQEMIELSSQQQKEQQLPPRAVQIVSHPFFGR
VVLTAGPAQFGLDLSKHKETRGFVASSKPSNGCSELTNPEAVMGKIALIQRGQCMFAEKA
RNIQNAGAIGGIVIDDNEGSSSDTAPLFQMAGDGKDTDDIKIPMLFLFSKEGSII
LDAIR
EYEEVEVLLSDKAKDRDPEMENEEQPSSENDSQNQSGEQISSSSQEVDLVDQESSEENSL
NSHPESLSLADMDNAASISPSEQTSNPTENHETTNLNGECTDLDNQLQEQSETEEDSNPN
VSWGKKVQPIDSILADWNEDIEAFEMMEKDEL
Sequence length 932
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   ER Quality Control Compartment (ERQC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital disorder of glycosylation, type 2v Pathogenic; Likely pathogenic rs2102068802, rs1650036294, rs2102081225, rs2102089507, rs2102093642, rs902837579, rs1650312698, rs777353823, rs2102081233, rs1558054304 RCV001580172
RCV001580173
RCV001580174
RCV001580175
RCV001580176
RCV001580177
RCV001580178
RCV001580179
RCV001580180
RCV002467399
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature Likely pathogenic rs1558053119 RCV000736118
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRONCHIECTASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EDEM3-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Congenital Disorders of Glycosylation Associate 34143952
★☆☆☆☆
Found in Text Mining only
Facial Dysmorphism with Multiple Malformations Associate 34143952
★☆☆☆☆
Found in Text Mining only
Genetic Diseases Inborn Associate 34143952
★☆☆☆☆
Found in Text Mining only
Growth Disorders Associate 30809043
★☆☆☆☆
Found in Text Mining only
Hypersensitivity Delayed Associate 34143952
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 27428423
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Stimulate 35897761
★☆☆☆☆
Found in Text Mining only
Prostatitis Associate 27428423
★☆☆☆☆
Found in Text Mining only