SMG9 — SMG9 nonsense mediated mRNA decay factor

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

49PubMed Papers

#8,989 · top 46% of 19K genes

22Diseases

top 6%

0Drugs

13Pathogenic Variants

top 48%

OMIM Disease GeneExperimental GO EvidenceSwiss-Prot Reviewed

nuclear-transcribed mRNA catabolic process, nonsense-mediated decayprotein bindingnegative regulation of apoptotic processidentical protein bindingAutosomal dominant deafness-onychodystrophy syndromeneurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesgenetic disorderGlobal developmental delay

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

SMG9 nonsense mediated mRNA decay factor

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations22

Autosomal dominant deafness-onychodystrophy syndromeOpen Targets

0.64Moderate

neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesOpen Targets

0.55Moderate

genetic disorderOpen Targets

0.41Moderate

Global developmental delayOpen Targets

0.33Weak

Abnormal cardiovascular system morphologyOpen Targets

0.33Weak

Abnormal facial shapeOpen Targets

0.33Weak

autism spectrum disorderOpen Targets

0.33Weak

Brainstem dysplasiaOpen Targets

0.33Weak

Neurodevelopmental abnormalityOpen Targets

0.33Weak

gliomaOpen Targets

0.08Suggestive

hepatocellular carcinomaOpen Targets

0.08Suggestive

Isolated anencephaly/exencephalyOpen Targets

0.05Suggestive

neural tube defects, folate-sensitiveOpen Targets

0.05Suggestive

Duane-radial ray syndromeOpen Targets

0.05Suggestive

anencephaly 1Open Targets

0.04Suggestive

hemoglobin D diseaseOpen Targets

0.04Suggestive

8q24.3 microdeletion syndromeOpen Targets

0.04Suggestive

3C syndromeOpen Targets

0.04Suggestive

PHACE syndromeOpen Targets

0.04Suggestive

Noonan syndromeOpen Targets

0.04Suggestive

Heart and brain malformation syndromeUniProt

Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesUniProt

Pathogenic Variants13

NM_019108.4(SMG9):c.749dup (p.Asn251fs)Pathogenic

Fetal anomalies with a likely genetic cause

★☆☆☆2026→ Residue 251

NM_019108.4(SMG9):c.909G>T (p.Gln303His)Likely pathogenic

not provided

★☆☆☆2025→ Residue 303

NM_019108.4(SMG9):c.240dup (p.Pro81fs)Pathogenic

Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies

★☆☆☆2025→ Residue 81

NM_019108.4(SMG9):c.441C>A (p.Tyr147Ter)Likely pathogenic

not provided

★☆☆☆2024→ Residue 147

NM_019108.4(SMG9):c.195del (p.Ile66fs)Pathogenic

Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies

★☆☆☆2024→ Residue 66

NM_019108.4(SMG9):c.1426C>T (p.Gln476Ter)Pathogenic

Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies

★☆☆☆2024→ Residue 476

NM_019108.4(SMG9):c.22C>T (p.Gln8Ter)Likely pathogenic

not provided

★☆☆☆2023→ Residue 8

NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)Pathogenic

Inborn genetic diseases

★☆☆☆2021→ Residue 263

NM_019108.4(SMG9):c.610dup (p.Val204fs)Likely pathogenic

not provided

★☆☆☆2020→ Residue 204

NM_019108.4(SMG9):c.520_521del (p.Pro174fs)Likely pathogenic

Heart and brain malformation syndrome|Brainstem dysplasia;Abnormal facial shape;Abnormal cardiovascular system morphology;Global developmental delay

★☆☆☆2013→ Residue 174

NM_019108.4(SMG9):c.1508G>C (p.Trp503Ser)Pathogenic

Heart and brain malformation syndrome

☆☆☆☆2024→ Residue 503

NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter)Pathogenic

Neurodevelopmental abnormality|Heart and brain malformation syndrome

☆☆☆☆2023→ Residue 393

NM_019108.4(SMG9):c.551T>C (p.Val184Ala)Pathogenic

Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies

☆☆☆☆2022→ Residue 184

Tissue Expression6 tissues

Lung

100%

Bone Marrow

93%

Brain

86%

Ovary

83%

Liver

74%

Heart

50%

Gene Interaction Network6 neighbors

Click a node to explore

Structure9 PDB hits

Preparing viewer…

PDB7PW8 · 2.82 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

1.05LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.83 [0.66–1.05]

Rankings3 dim

Where SMG9 stands among ~20K protein-coding genes

#9,018of 20,598
Most Researched49
#2,632of 5,509
Most Pathogenic Variants13
#10,504of 17,882
Most Constrained (LOEUF)1.05