Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80153
Gene name Gene Name - the full gene name approved by the HGNC.
Enhancer of mRNA decapping 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EDC3
Synonyms (NCBI Gene) Gene synonyms aliases
LSM16, MRT50, YJDC, YJEFN2, hYjeF_N2-15q23
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609842 26114 ENSG00000179151
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 50 rs1057517676 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperopia Hyperopia N/A N/A GWAS
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease 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