OSTN

protein-coding

osteocrin

Gene summary

Enables hormone activity. Involved in bone growth and negative regulation of dendrite extension. Is active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_198184.2

Inheritance

—

ClinVar variants

U:25B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr3:191,199,241-191,265,615

External References & Databases

Ensembl (ENSG00000188729)

Transcript & Mutation Effects

hg38 • Region Span ~66.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OSTN variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 25

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198184.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			25 clinvar	1 clinvar		26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	1	1	27

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198184.2	RefSeq	NP_937827.1	3	MANE Select
ENST00000682035.1	Ensembl	ENSP00000508312.1	3	MANE Select
ENST00000445281.5	Ensembl	ENSP00000416576.1	3	Standard
ENST00000445281.6	Ensembl	ENSP00000416576.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
ostn	Danio rerio	Structure: trabecula cranii Quality: decreased length abnormal

Gene / Model

Organism

Observed Phenotype

ostn

Danio rerio

Structure: trabecula cranii

Quality: decreased length

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

endochondral bone growth
cell surface receptor signaling pathway
hormone-mediated signaling pathway
regulation of signaling receptor activity
negative regulation of osteoblast differentiation

Molecular Function

hormone activity

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000339051
Coding exons: 3
Length: 66375
Individuals with no LoFs: 125717
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 125740
p: 0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.146	71	67.6	1.05	0.00000325	847
Missense (PolyPhen)		21	22.283	0.94244		297
Synonymous	0.00380	25	25.0	0.999	0.00000107	285
Loss of Function	0.180	5	5.45	0.917	3.13e-7	64

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00021	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000072	0.000070	rare
South Asian	0.00016	0.00016	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: 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 developing cortex (PubMed:27830782). Probably acts by binding to natriuretic peptide receptor NPR3/NPR-C, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (By similarity). {ECO:0000250|UniProtKB:P61364, ECO:0000269|PubMed:27830782}.;

Recessive Scores

pRec: 0.123

Intolerance Scores

LoFtool: 0.485
RVIS EVS: 0.17
RVIS percentile EVS: 65.33

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium