OSTN osteocrin [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSTNprovided by HGNC
Official Full Name: osteocrinprovided by HGNC
Primary source: HGNC:HGNC:29961
See related: Ensembl:ENSG00000188729 MIM:610280; AllianceGenome:HGNC:29961
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MUSCLIN
Summary: Predicted to enable signaling receptor binding activity. Involved in negative regulation of dendrite extension. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q28

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (191199241..191265615)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (194014945..194081320)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (190917030..190983404)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The correlation of serum musclin with diabetic nephropathy.
Title: The correlation of serum musclin with diabetic nephropathy.
Musclin attenuates lipid deposition in hepatocytes through SIRT7/autophagy-mediated suppression of ER stress.
Title: Musclin attenuates lipid deposition in hepatocytes through SIRT7/autophagy-mediated suppression of ER stress.
Nestin and osteocrin mRNA increases in human semitendinosus myotendinous junction 7 days after a single bout of eccentric exercise.
Title: Nestin and osteocrin mRNA increases in human semitendinosus myotendinous junction 7 days after a single bout of eccentric exercise.
Skeletal muscle derived Musclin protects the heart during pathological overload.
Title: Skeletal muscle derived Musclin protects the heart during pathological overload.
Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin.
Title: Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin.
This study demonstrated that a female-specific role OSTN in tau pathology
Title: Sex-specific genetic predictors of Alzheimer's disease biomarkers.
The circulating concentration of musclin was significantly increased in type 2 diabetes mellitus patients. Results suggest that musclin has a strong relationship with insulin resistance in type 2 diabetes mellitus.
Title: Increased circulating levels of musclin in newly diagnosed type 2 diabetic patients.
findings suggest that, in response to sensory input, OSTN regulates features of neuronal structure and function that are unique to primates
Title: Evolution of Osteocrin as an activity-regulated factor in the primate brain.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
Ostn is a naturally occurring ligand of the NPR-C clearance receptor and may act to locally modulate the actions of the natriuretic system in bone by blocking the clearance action of NPR-C, thus locally elevating levels of C-type natriuretic peptide.
Title: Osteocrin is a specific ligand of the natriuretic Peptide clearance receptor that modulates bone growth.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in endochondral bone growth	IEA Inferred from Electronic Annotation more info
involved_in hormone-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of D-glucose import	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of dendrite extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: osteocrin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_198184.2 → NP_937827.1 osteocrin precursor

See identical proteins and their annotated locations for NP_937827.1

Status: VALIDATED

Source sequence(s)

AC126567, AY398681

Consensus CDS

CCDS3299.1

UniProtKB/Swiss-Prot

A1A4U3, P61366

Related

ENSP00000508312.1, ENST00000682035.1

Conserved Domains (1) summary

pfam11037
Location:1 → 133

Musclin; Insulin-resistance promoting peptide in skeletal muscle

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

191199241..191265615

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017006303.3 → XP_016861792.1 osteocrin isoform X1

UniProtKB/Swiss-Prot

A1A4U3, P61366

Conserved Domains (1) summary

pfam11037
Location:1 → 133

Musclin; Insulin-resistance promoting peptide in skeletal muscle