1. Gene
  2. SMG8 - SMG8 nonsense mediated mRNA decay factor Gene

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

Smg8_Smg9: Smg8_Smg9 (42 - 84)

Smg8_Smg9

Smg8_Smg9: Smg8_Smg9 (133 - 991)

  • 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 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

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