OSTN (osteocrin)

Gene

• Entrez ID: 344901
• Gene name: Osteocrin
• Gene symbol: OSTN
• Synonyms (NCBI Gene): MUSCLIN
• Chromosome: 3
• Chromosome location: 3q28

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003416	Process	Endochondral bone growth	IEA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005179	Function	Hormone activity	IDA	27830782
GO:0005179	Function	Hormone activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	27830782
GO:0005615	Component	Extracellular space	IEA
GO:0006182	Process	CGMP biosynthetic process	IDA	1672777
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0008217	Process	Regulation of blood pressure	IDA	1672777
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0033688	Process	Regulation of osteoblast proliferation	ISS
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0046325	Process	Negative regulation of D-glucose import	IEA
GO:0098868	Process	Bone growth	IDA	17951249
GO:1903860	Process	Negative regulation of dendrite extension	IMP	27830782

Other IDs

• MIM: 610280
• HGNC: 29961
• e!Ensembl: ENSG00000188729

Protein

• UniProt ID: P61366
• Protein name: Osteocrin (Musclin) [Cleaved into: Processed Osteocrin]
• Protein function: Hormone that acts as a regulator of dendritic growth in the developing cerebral cortex in response to sensory experience (PubMed:27830782). Induced in the brain following membrane depolarization and inhibits dendritic branching in neurons of the
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11037	Musclin	1 → 133	Insulin-resistance promoting peptide in skeletal muscle	Family

• Tissue specificity: TISSUE SPECIFICITY: Enriched in neocortical regions of the developing cerebral cortex (PubMed:27830782). Not expressed in other compartments of the neocortical wall or in brain regions such as the hippocampus, striatum, mediodorsal nucleus of the thalamus
• Sequence:

  MLDWRLASAHFILAVTLTLWSSGKVLSVDVTTTEAFDSGVIDVQSTPTVREEKSATDLTA
  KLLLLDELVSLENDVIETKKKRSFSGFGSPLDRLSAGSVDHKGKQRKVVDHPKRRFGIPM
  DRIGRNRLSNSRG

• Sequence length: 133

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
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyloidosis	Amyloidosis	BEFREE	29967939		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	39457408	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29326144		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28185530	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	28185530	Stimulate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	24485798		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	24485798		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29326144		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29923546	Associate	★☆☆☆☆ Found in Text Mining only