SMG8 - SMG8 nonsense mediated mRNA decay factor Gene

Also Known as ALKUS; C17orf71

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55181

About SMG8

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:59,210,035-59,215,230 (from NCBI)

This gene has 6 transcripts (splice variants), 211 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 5.9), testis (RPKM 5.7) and 25 other tissues.

Summary

Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

SMG8 Products (1)

mRNA	Protein	Name
NM_018149.7	NP_060619.4	nonsense-mediated mRNA decay factor SMG8

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19417104	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	19417104	GOA
involved in regulation of protein kinase activity	IMP IMP: Inferred from mutant phenotype	19417104	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMG8 Protein Structure

Smg8_Smg9

0
200
400
600
800
991 a.a.

Protein Preferred Names	Protein Names
nonsense-mediated mRNA decay factor SMG8	amplified in breast cancer gene 2 protein

SMG8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMG8	Q8ND04	SMG9	Homo sapiens	Q9H0W8	GMS	20817927

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Alzahrani-Kuwahara Syndrome	ALKUS Neurodevelopmental Disorder With Dysmorphic Facies And Cataracts
Metaphyseal Chondrodysplasia, Schmid Type	MCDS Schmid Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia Schmid Type Spondylometaphyseal Dysplasia, Japanese Type Japanese Type Spondylometaphyseal Dysplasia Schmid Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia Type Schmid Schmid Type Metaphyseal Chondrodysplasia SMCD Chondrodysplasia, Metaphyseal, Schmid Type Corneal Dystrophy, Subepithelial Mucinous
Pancreatic Adenosquamous Carcinoma	Adenosquamous Carcinoma Of Pancreas Adenosquamous Carcinoma Of The Pancreas
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13434	SMG8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SMG8	VGNC	VGNC:97222
Bos taurus	SMG8	VGNC	VGNC:55871
Felis catus	SMG8	VGNC	VGNC:97635
Macaca mulatta	SMG8	VGNC	VGNC:104655
Mus musculus	SMG8	MGD	MGI:1921383
Rattus norvegicus	SMG8	RGD	RGD:1306862
Others	SMG8	NCBI