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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMG8
SMG8 nonsense mediated mRNA decay factor
Chromosome 17 Β· 17q22
NCBI Gene: 55181Ensembl: ENSG00000167447.14HGNC: HGNC:25551UniProt: Q8ND04
44PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnuclear-transcribed mRNA catabolic process, nonsense-mediated decayregulation of protein kinase activityregulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decayAlzahrani-Kuwahara syndromemicrocephalyAbnormal facial shapeShort stature
✦AI Summary

SMG8 is a regulatory component of the nonsense-mediated mRNA decay (NMD) pathway, which eliminates transcripts containing premature stop codons essential for mammalian development and stress response 1. SMG8 functions as part of the SMG1C complex alongside SMG1 kinase and SMG9, where it inhibits SMG1 kinase activity through a C-terminal kinase inhibitory domain (KID) that covers the catalytic pocket 1. SMG8 and SMG9 form a conserved G-domain heterodimer that interacts with SMG1; nucleotide hydrolysis of SMG9 triggers conformational changes allowing SMG8's KID to release from the inhibitory position, restoring SMG1 kinase activity for UPF1 phosphorylation 12. Despite structural importance, SMG8 and SMG9 function as nonessential modulators that safeguard NMD efficiency; their complete loss causes only modest NMD impairment but renders cells hypersensitive to SMG1 inhibition 3. Biallelic SMG8 loss-of-function variants cause Alzahrani-Kuwahara syndrome (ALKUS), a neurodevelopmental disorder featuring global developmental delay, microcephaly, facial dysmorphism, and congenital heart and eye malformations 45. SMG8 variants are also emerging as subtype-specific risk factors for frontotemporal lobar degeneration 6. Additionally, SMG8/SMG9 deficiency promotes resistance to ATR inhibitors in gastric cancer through altered DNA damage response mechanisms 7.

Sources cited
1
SMG8 contains a kinase inhibitory domain that inhibits SMG1 activity; GTP hydrolysis of SMG9 causes conformational changes restoring SMG1 kinase activity
PMID: 31729466
2
SMG8-SMG9 forms a conserved G-domain heterodimer with nucleotide binding at SMG9's G domain
PMID: 28389433
3
SMG8 and SMG9 are nonessential modulators; complete loss causes modest NMD impairment with hypersensitivity to SMG1 inhibition
PMID: 41830328
4
Homozygous SMG8 variants cause developmental disorder with global developmental delay, microcephaly, facial dysmorphism, and congenital malformations
PMID: 33242396
5
SMG8 biallelic variants cause Alzahrani-Kuwahara syndrome; SMG8-related disorder shows phenotypic overlap with SMG9-related disease
PMID: 34761517
6
SMG8 identified as a novel subtype-specific FTLD-TDP risk gene in rare variant analysis
PMID: 40280976
7
SMG8/SMG9 loss drives ATR inhibitor resistance in gastric cancer through SMG1-mediated mechanisms
PMID: 36273494
8
SMG8 is a candidate gene associated with intellectual disability in consanguineous families
PMID: 36344539
Disease Associationsβ“˜21
Alzahrani-Kuwahara syndromeOpen Targets
0.71Strong
microcephalyOpen Targets
0.48Moderate
Abnormal facial shapeOpen Targets
0.48Moderate
Intellectual disabilityOpen Targets
0.48Moderate
Short statureOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.45Moderate
lysosomal storage diseaseOpen Targets
0.45Moderate
multiple sclerosisOpen Targets
0.45Moderate
Parkinson diseaseOpen Targets
0.45Moderate
developmental disorder of mental healthOpen Targets
0.37Weak
anemiaOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
cataractOpen Targets
0.19Weak
type 1 diabetes mellitusOpen Targets
0.03Suggestive
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
colorectal neoplasmOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Alzahrani-Kuwahara syndromeUniProt
Pathogenic Variants11
NM_018149.7(SMG8):c.971dup (p.Asn324fs)Pathogenic
Alzahrani-Kuwahara syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 324
NM_018149.7(SMG8):c.2435T>G (p.Leu812Ter)Pathogenic
Alzahrani-Kuwahara syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 812
NM_018149.7(SMG8):c.1667dup (p.Tyr556Ter)Pathogenic
Alzahrani-Kuwahara syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 556
NM_018149.7(SMG8):c.1541dup (p.Asn514fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 514
NM_018149.7(SMG8):c.1534del (p.Gln512fs)Likely pathogenic
Alzahrani-Kuwahara syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 512
NM_018149.7(SMG8):c.615dup (p.Val206fs)Likely pathogenic
Alzahrani-Kuwahara syndrome
β˜…β˜†β˜†β˜†β†’ Residue 206
NM_018149.7(SMG8):c.619_622del (p.Cys207fs)Likely pathogenic
Alzahrani-Kuwahara syndrome
β˜…β˜†β˜†β˜†β†’ Residue 207
NM_018149.7(SMG8):c.1225_1226del (p.Thr409fs)Likely pathogenic
Alzahrani-Kuwahara syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 409
NM_018149.7(SMG8):c.2515C>T (p.Arg839Ter)Pathogenic
Alzahrani-Kuwahara syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 839
NM_018149.7(SMG8):c.623A>G (p.His208Arg)Pathogenic
Alzahrani-Kuwahara syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 208
NM_018149.7(SMG8):c.441dup (p.Val148fs)Pathogenic
Alzahrani-Kuwahara syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 148
View on ClinVar β†—
Related Genes
ETF1Protein interaction100%UPF1Protein interaction94%SMG6Protein interaction94%SMG5Protein interaction94%UPF2Protein interaction94%GSPT1Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
88%
Brain
82%
Ovary
53%
Liver
46%
Lung
42%
Gene Interaction Network
Click a node to explore
SMG8ETF1UPF1SMG6SMG5UPF2GSPT1
PROTEIN STRUCTURE
Preparing viewer…
PDB7PW8 Β· 2.82 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.57 [0.45–0.73]
RankingsWhere SMG8 stands among ~20K protein-coding genes
  • #9,654of 20,598
    Most Researched44
  • #2,788of 5,498
    Most Pathogenic Variants11
  • #5,630of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedSMG8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
PMID: 36344539
Sci Rep Β· 2022
1.00
2
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
PMID: 40280976
Nat Commun Β· 2025
0.90
3
Cryo-EM structure of SMG1-SMG8-SMG9 complex.
PMID: 31729466
Cell Res Β· 2019
0.80
4
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
PMID: 34761517
Am J Med Genet A Β· 2022
0.70
5
Structure of a SMG8-SMG9 complex identifies a G-domain heterodimer in the NMD effector proteins.
PMID: 28389433
RNA Β· 2017
0.60