Gene: SMO

Alternate names for this Gene: CRJS|FZD11|Gx|PHLS|SMOH

Gene Summary: The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: smoothened, frizzled class receptor

Type of Gene: protein-coding

rs17710891 in SMO gene and Carcinoma, Basal Cell PMID 25759020 2015 Smoothened variants explain the majority of drug resistance in basal cell carcinoma.

PMID 19726788 2009 Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.

PMID 22679179 2012 Vismodegib.

rs17710891 in SMO gene and Medulloblastoma PMID 22679179 2012 Vismodegib.

PMID 19726788 2009 Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.

rs143083812 in SMO gene and Osteoarthritis of hip PMID 30374069 2018 Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His).

rs879255280 in SMO gene and Winter Shortland Temple syndrome PMID 27236920 2016 A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

PMID 24859340 2014 Identification of recurrent SMO and BRAF mutations in ameloblastomas.