Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	730094
Gene name	Modulator of smoothened
Gene symbol	MOSMO
Synonyms (NCBI Gene)	ATTHOGBC030336C16orf52
Chromosome	16
Chromosome location	16p12.2

27 Show/Hide all (27)

GO ID	Ontology	Definition	Evidence
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

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

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

Interactions

View interactions

KEGG Pathway
Hedgehog signaling pathway

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
SCHIZOPHRENIA	—	GWAS catalog	26198764	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes Genes most often co-reported with MOSMO across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for MOSMO.

Diseases Linked via Similar Genes Diseases curated for genes most similar to MOSMO (see Related Genes above), that are NOT already directly curated for MOSMO itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to MOSMO.

MOSMO (modulator of smoothened)

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