MOSMO (modulator of smoothened)

Gene

• Entrez ID: 730094
• Gene name: Modulator of smoothened
• Gene symbol: MOSMO
• Synonyms (NCBI Gene): ATTHOG, BC030336, C16orf52
• Chromosome: 16
• Chromosome location: 16p12.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007507	Process	Heart development	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031647	Process	Regulation of protein stability	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045664	Process	Regulation of neuron differentiation	ISS
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IBA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0060170	Component	Ciliary membrane	IBA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0060972	Process	Left/right pattern formation	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8NHV5
• Protein name: Modulator of smoothened protein (Attenuator of hedgehog)
• Protein function: Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenito
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18800	Atthog	25 → 166	Attenuator of Hedgehog	Family

• Sequence:

  MDKLTIISGCLFLAADIFAIASIANPDWINTGESAGALTVGLVRQCQTIHGRDRTCIPPR
  LPPEWVTTLFFIIMGIISLTVTCGLLVASHWRREATKYARWIAFTGMILFCMAALIFPIG
  FYINEVGGQPYKLPNNTVVGSSYVLFVLSIFFTIVGLLFAGKVCLPG

• Sequence length: 167

Pathways

KEGG:

Hedgehog signaling pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations