AlphaFold predicted structure
SMO · Q99835
Mean pLDDT
72.8/ 100
Confident
787 residues
Confidence breakdown
- Very high(≥ 90)42%
- Confident(70–90)19%
- Low(50–70)12%
- Very low(< 50)28%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SMO
Chr 7q32.1smoothened, frizzled class receptor
- Aliases:
- FZD11
- MANE:
- ENST00000249373.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOcular coloboma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
Curry-Jones syndrome
0.74basal cell carcinoma
0.74congenital hypothalamic hamartoma syndrome
0.64acute myeloid leukemia
0.62medulloblastoma
0.55neoplasm
0.52Hirschsprung disease
0.46osteoarthritis, hip
0.46microcephaly
0.40meningioma
0.39
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Spermine oxidase
Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal
Diseases associated with SMO
Curated MONDO disease pages that list SMO among their top associated genes.