SMG9

Chr 19q13.31

SMG9 nonsense mediated mRNA decay factor

Aliases:: FLJ12886
MANE:: ENST00000270066.11

OMIM: 613176 ↗NCBI: 56006 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SMG9 · Q9H0W8

v62025-08-01

Predicted Aligned Error matrix for SMG9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.6/ 100

Confident

520 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)20%
Low(50–70)6%
Very low(< 50)37%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Autosomal dominant deafness-onychodystrophy syndrome
0.64
neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
0.55
hereditary disease
0.41
Global developmental delay
0.33
Abnormal cardiovascular system morphology
0.33
Abnormal facial shape
0.33
autism spectrum disorder
0.33
Brainstem dysplasia
0.33
Neurodevelopmental abnormality
0.33
glioma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nonsense-mediated mRNA decay factor SMG9

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity)