Location [1]
Hedgehog signaling
Protein [2]
Smoothened homolog
Synonyms [1]

SMO (smoothened, frizzled class receptor) is a gene that encodes smoothened homolog, a transmembrane receptor protein that delivers signals from Hedgehog ligands to cells. Mutations in SMO that lead to constitutive activation of SMO are known to play a role in carcinogenesis of basal cell carcinoma, glioblastoma, medulloblastoma, and rhabdomyosarcoma (PMID: 21679342). 



SMO is altered in 1.64% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

SMO GENIE Cases - Top Diseases

The most common alterations in SMO are SMO Mutation (1.47%), SMO Amplification (0.16%), SMO P694fs (0.11%), SMO L23dup (0.06%), and SMO Loss (0.07%) [3].

SMO GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of SMO in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Malignant Solid Tumor +

Desmoplastic/Nodular Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Meningioma +

Anaplastic Oligodendroglioma +

Melanoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Glioblastoma +

Non-Small Cell Lung Carcinoma +

Malignant Glioma +

Diffuse Glioma +

Anaplastic Ependymoma +

Bladder Carcinoma +

High-Grade Glioma, NOS +

Gastric Adenocarcinoma +

Anaplastic Astrocytoma +

Pancreatic Carcinoma +

Biliary Tract Carcinoma +

Multiple Myeloma +

Malignant Salivary Gland Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Intracranial Primitive Neuroectodermal Neoplasm +

Pineoblastoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.