SMG8 - SMG8 nonsense mediated mRNA decay factor Gene

Homo sapiens

Also known as ALKUS; C17orf71

Gene ID: 55181 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19417104	GOA

Biological Process GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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