EDC3 - enhancer of mRNA decapping 3 Gene

Homo sapiens

Also known as YJDC; LSM16; MRT50; YJEFN2; hYjeF_N2-15q23

Gene ID: 80153 | Gene type: protein coding

About EDC3

Cytogenetic location: 15q24.1 Genomic coordinates (GRCh38): 15:74,630,558-74,696,024 (from NCBI)

This gene has 19 transcripts (splice variants), 247 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.2), ovary (RPKM 7.5) and 25 other tissues.

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. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [provided by RefSeq, May 2017]

EDC3 Products(5)

mRNA	Protein	Name
NM_001142443.3	NP_001135915.1	enhancer of mRNA-decapping protein 3 isoform 1
NM_001142444.3	NP_001135916.1	enhancer of mRNA-decapping protein 3 isoform 1
NM_001351378.2	NP_001338307.1	enhancer of mRNA-decapping protein 3 isoform 1
NM_001351379.2	NP_001338308.1	enhancer of mRNA-decapping protein 3 isoform 2
NM_025083.5	NP_079359.2	enhancer of mRNA-decapping protein 3 isoform 1

EDC3 Protein Structure

LSM14

FDF

YjeF_N

0
100
200
300
400
508 a.a.

Protein Preferred Names

Protein Names

enhancer of mRNA-decapping protein 3

LSM16 homolog (EDC3, S. cerevisiae)

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 50

MRT50	Mental Retardation, Autosomal Recessive 50
Autosomal Recessive Intellectual Developmental Disorder 50	Mental Retardation, Autosomal Recessive, Type 50

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Epiphyseal Dysplasia, Multiple, 3

EDM3	Multiple Epiphyseal Dysplasia 3
Epiphyseal Dysplasia, Multiple, 3, With Or Without Myopathy	Multiple Epiphyseal Dysplasia 3 With Or Without Myopathy
Epiphyseal Dysplasia Multiple 3	Dysplasia, Epiphyseal, Multiple, Type 3

Epiphyseal Dysplasia, Multiple, 4

EDM4	Multiple Epiphyseal Dysplasia 4
Multiple Epiphyseal Dysplasia With Clubfoot	Multiple Epiphyseal Dysplasia Type 4
Multiple Epiphyseal Dysplasia, Autosomal Recessive	Multiple Epiphyseal Dysplasia With Bilayered Patellae
Med4	Polyepiphyseal Dysplasia Type 4
Rmed	Autosomal Recessive Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia With Bilateral Patellae	Epiphyseal Dysplasia Multiple 4
Multiple Epiphyseal Dysplasia With Double-Layered Patella	Dysplasia, Epiphyseal, Multiple, Type 4

Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04155	EDC3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EDC3	VGNC	VGNC:61720
Bos taurus	EDC3	VGNC	VGNC:28320
Rattus norvegicus	EDC3	RGD	RGD:1306898
Mus musculus	EDC3	MGD	MGI:2142951
Macaca mulatta	EDC3	VGNC	VGNC:72114
Canis familiaris	EDC3	VGNC	VGNC:40192