MOSMO Gene
Modulator of Smoothened
Gene Information Card
| Symbol | MOSMO |
|---|---|
| Full Name | modulator of smoothened |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 115939 ncbi.nlm.nih.gov/gene/115939 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | Q5VZ66 |
| OMIM ID | 618526 |
| HGNC ID | 33820 |
| Aliases | C16orf88, MGC26733 |
Description
MOSMO (modulator of smoothened) encodes a protein involved in the Hedgehog signaling pathway, specifically modulating the activity of the Smoothened (SMO) receptor. It is localized to cilia and plays a role in ciliary trafficking and signal transduction. Mutations in MOSMO are associated with ciliopathies and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 38 | Disruption of Hedgehog signaling due to MOSMO loss-of-function variants leads to ciliary dysfunction and cerebellar/brainstem malformations. | ClinVar, OMIM |
| Orofaciodigital syndrome XIX | Impaired ciliary SMO modulation results in abnormal craniofacial and digit development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain (cerebellum) | 5.1 | Low |
| Kidney | 4.3 | Low |
| Lung | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Embryonic kidney cell line |
| SH-SY5Y | 4.8 | Neuroblastoma cell line |
| HepG2 | 3.2 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss-of-function; truncation of MOSMO protein |
| c.494G>A (p.Arg165Gln) | Missense | Rare | Impaired SMO binding and ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce MOSMO protein levels or disrupt SMO interaction lead to Hedgehog signaling defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0007224 (smoothened signaling pathway) |
| • GO:0036064 (ciliary basal body) | • GO:0060271 (cilium assembly) |
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Cilium assembly (Reactome: R-HSA-5620912)
Protein Summary
The MOSMO protein is a 267-amino acid transmembrane protein localized to the ciliary membrane. It directly interacts with Smoothened (SMO) to facilitate its ciliary entry and activation upon Hedgehog ligand stimulation. Loss of MOSMO function impairs SMO ciliary localization, leading to defective Hedgehog signaling and ciliopathy phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MOSMO Knockout HEK293 Cell Line | EDJ-KQ14289 | Human | 730094 | Details Get a Quote |
| MOSMO Knockout A-549 Cell Line | EDJ-KQ44337 | Human | 730094 | Details Get a Quote |
| MOSMO Knockout HCT 116 Cell Line | EDJ-KQ44338 | Human | 730094 | Details Get a Quote |
| MOSMO Knockout HeLa Cell Line | EDJ-KQ44339 | Human | 730094 | Details Get a Quote |
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