Gene Gene information from NCBI Gene database.
Entrez ID 80153
Gene name Enhancer of mRNA decapping 3
Gene symbol EDC3
Synonyms (NCBI Gene)
LSM16MRT50YJDCYJEFN2hYjeF_N2-15q23
Chromosome 15
Chromosome location 15q24.1
Summary This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5` to 3` mRNA decay pathway. Mutat
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1057517676 A>G Pathogenic Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
579
miRTarBase ID miRNA Experiments Reference
MIRT020080 hsa-miR-361-5p Sequencing 20371350
MIRT026990 hsa-miR-103a-3p Sequencing 20371350
MIRT030653 hsa-miR-22-3p Sequencing 20371350
MIRT031570 hsa-miR-16-5p Sequencing 20371350
MIRT049900 hsa-miR-31-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IBA
GO:0000932 Component P-body IEA
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
GO:0003729 Function MRNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609842 26114 ENSG00000179151
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96F86
Protein name Enhancer of mRNA-decapping protein 3 (LSM16 homolog) (YjeF N-terminal domain-containing protein 2) (YjeF_N2) (hYjeF_N2) (YjeF domain-containing protein 1)
Protein function Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis. {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:17533573, ECO:0000269|PubM
PDB 2VC8 , 2WAX , 2WAY , 3D3J , 3D3K , 6S8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12701 LSM14 4 67 Scd6-like Sm domain Domain
PF16598 Edc3_linker 102 197 Family
PF09532 FDF 198 301 FDF domain Domain
PF03853 YjeF_N 301 467 YjeF-related protein N-terminus Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in theca and granulosa cells in ovary, and in spermatids of the meiotic division part II and apical membrane of Sertoli cells in testis (at protein level). Also expressed in brain and mammary gland. {ECO:0000269|PubMed:175335
Sequence
MATDWLGSIVSINCGDSLGVYQGRVSAVDQVSQTISLTRPFHNGVKCLVPEVTFRAGDIT
ELKILEI
PGPGDNQHFGDLHQTELGPSGAGCQVGINQNGTGKFVKKPASSSSAPQNIPKR
TDVKSQDVAVSPQQQQCSKSYVDRHMESLSQSKSFRRRHNSWSSSSRHPNQATPKKSGLK
NGQMKNKDDECFGDDIE
EIPDTDFDFEGNLALFDKAAVFEEIDTYERRSGTRSRGIPNER
PTRYRHDENILESEPIVYRRIIVPHNVSKEFCTDSGLVVPSISYELHKKLLSVAEKHGLT
LERRLEMTGVCASQMALTLLGGPNRLNPKNVHQRPTVALLCGPHVKGAQGISCGRHLANH
DVQVILFLPNFVKMLESITNELSLFSKTQGQQVSSLKDLPTSPVDLVINCLDCPENVFLR
DQPWYKAAVAWANQNRAPVLSIDPPVHEVEQGIDAKWSLALGLPLPL
GEHAGRIYLCDIG
IPQQVFQEVGINYHSPFGCKFVIPLHSA
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA degradation   mRNA decay by 5' to 3' exoribonuclease
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal recessive 50 Pathogenic rs2505375430, rs1057517676 RCV003993707
RCV000412560
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EDC3-related disorder Likely benign rs562794805, rs764673612, rs764338631, rs138195822 RCV003911398
RCV003949384
RCV003944673
RCV003942905
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Conversion Disorder Associate 25701870
Intellectual Disability Associate 25701870, 29685133
Nervous System Malformations Associate 25701870
Neuroblastoma Associate 29685133
Polycystic Kidney Autosomal Dominant Associate 38404150