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OSTN Gene

protein-coding   GIFtS: 45
GCID: GC03P190917

Osteocrin

  See OSTN-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
osteocrin1 2
MUSCLIN2
Musclin3

External Ids:    HGNC: 299611   Entrez Gene: 3449012   Ensembl: ENSG000001887297   OMIM: 6102805   UniProtKB: P613663   

Export aliases for OSTN gene to outside databases

Previous GC identifers: GC03U900494 GC03P192251 GC03P192413 GC03P188329


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for OSTN Gene:
OSTN (osteocrin) is a protein-coding gene. Diseases associated with OSTN include acromesomelic dysplasia. GO annotations related to this gene include hormone activity.

UniProtKB/Swiss-Prot: OSTN_HUMAN, P61366
Function: Appears to modulate osteoblastic differentiation. Could also function as an autocrine and paracrine
factor linked to glucose metabolism in skeletal muscle (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OSTN gene promoter:
         AhR   MEF-2   ATF-2   FOXO3   Evi-1   FOXO3b   MEF-2A   FOXO3a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSTN promoter sequence
   Search Chromatin IP Primers for OSTN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OSTN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q28   Ensembl cytogenetic band:  3q28   HGNC cytogenetic band: 3q29

OSTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSTN gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P190917:  view genomic region     (about GC identifiers)

Start:
190,917,030 bp from pter      End:
190,983,404 bp from pter
Size:
66,375 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OSTN_HUMAN, P61366 (See protein sequence)
Recommended Name: Osteocrin precursor  
Size: 133 amino acids; 14722 Da
Secondary accessions: A1A4U3

Explore the universe of human proteins at neXtProt for OSTN: NX_P61366

Explore proteomics data for OSTN at MOPED


See OSTN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_937827.1  
ENSEMBL proteins: 
 ENSP00000416576   ENSP00000342356  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR021088 Osteocrin

Graphical View of Domain Structure for InterPro Entry P61366

ProtoNet protein and cluster: P61366


Find genes that share domains with OSTN           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: OSTN_HUMAN, P61366
Function: Appears to modulate osteoblastic differentiation. Could also function as an autocrine and paracrine
factor linked to glucose metabolism in skeletal muscle (By similarity)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005102receptor binding ----
GO:0005179hormone activity IEA--
     
Find genes that share ontologies with OSTN           About GenesLikeMe


Phenotypes:
     3 GenomeRNAi human phenotypes for OSTN:
 G0/1 arrest  Increased G1 DNA content  Increased HPV18 LCR reporter a 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
OSTN_HUMAN, P61366: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005615extracellular space IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OSTN
Interactions:

    Search GeneGlobe Interaction Network for OSTN

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001503ossification IEA--
GO:0003416endochondral bone growth IEA--
GO:0007166cell surface receptor signaling pathway IEA--
GO:0030154cell differentiation IEA--
GO:0030828positive regulation of cGMP biosynthetic process IEA--

Find genes that share ontologies with OSTN           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for OSTN



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for OSTN gene: 
NM_198184.1  

Unigene Cluster for OSTN:

Osteocrin
Hs.526794
Unigene Representative Sequence: AY398681
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000445281 ENST00000339051(uc011bsn.2)
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  QuantiFast Probe-based Assays in human, mouse, rat OSTN

Additional mRNA sequence: 

AY398681.1 AY573933.1 BC128106.1 BC128107.1 

1 DOTS entry:

DT.101975383 

3 AceView cDNA sequences:

AY398681 NM_198184 AY573933 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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OSTN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GATCGGATTG
OSTN Expression
About this image

OSTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

OSTN Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.526794

UniProtKB/Swiss-Prot: OSTN_HUMAN, P61366
Tissue specificity: Expressed in bone

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for OSTN gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ostn1 , 5 osteocrin1, 5 81.03(n)1
76.92(a)1
  16 (18.88 cM)5
2397901  NM_198112.21  NP_932780.11 
 273074895 
chicken
(Gallus gallus)
Aves OSTN1 osteocrin 61.65(n)
58.65(a)
  424907  NM_001098608.1  NP_001092078.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia ostn1 osteocrin 64.9(n)
63.64(a)
  100497579  XM_002934049.2  XP_002934095.2 
zebrafish
(Danio rerio)
Actinopterygii LOC1003339361 osteocrin-like 55.74(n)
51.26(a)
  100333936  XM_002664661.3  XP_002664707.1 


ENSEMBL Gene Tree for OSTN (if available)
TreeFam Gene Tree for OSTN (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for OSTN (see all 785)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1486032201,2
--190928558(+) GATGAA/TGTTGG 1 -- us2k10--------
rs98420801,2
C,F,H--190928594(+) AGTGGC/TAAAGC 1 -- us2k129Minor allele frequency- T:0.39EA NS NA WA CSA 2659
rs1413611381,2
C--190928630(+) GCTCAC/TACTCC 1 -- us2k10--------
rs1896475711,2
--190928765(+) TTTTTA/GATCTA 1 -- us2k10--------
rs1811722421,2
--190928798(+) CTCACC/TACCCA 1 -- us2k10--------
rs1859623681,2
--190929046(+) TTTCCA/GTTTCT 1 -- us2k10--------
rs1416050461,2
C--190929061(+) AAAAC-/TGTTTT 1 -- us2k10--------
rs1132091631,2
F--190929137(+) TAAGTT/CATTTA 1 -- us2k11Minor allele frequency- C:0.00CSA 1
rs1908742401,2
--190929148(+) CTTTAA/GATCAG 1 -- us2k10--------
rs772503811,2
C,F--190929155(+) TCAGTA/TGTCTG 1 -- us2k11Minor allele frequency- T:0.07WA 118

HapMap Linkage Disequilibrium report for OSTN (190917030 - 190983404 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for OSTN:    About this table    
Variant IDTypeSubtypePubMed ID
esv2661473CNV Deletion23128226
nsv878101CNV Loss21882294
dgv5360n71CNV Loss21882294
nsv878102CNV Loss21882294
nsv878104CNV Loss21882294
nsv428428CNV Gain18775914
essv7531CNV CNV17122850
dgv1544e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610280    OMIM disorders: --

1 disease for OSTN:    
About MalaCards
acromesomelic dysplasia

1 disease from the University of Copenhagen DISEASES database for OSTN:
Acromesomelic dysplasia

Find genes that share disorders with OSTN           About GenesLikeMe

Genetic Association Database (GAD): OSTN
Human Genome Epidemiology (HuGE) Navigator: OSTN (2 documents)

Export disorders for OSTN gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for OSTN gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with OSTN)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Osteocrin, a novel bone-specific secreted protein that modulates the osteoblast phenotype. (PubMed id 14523025)1, 2, 3 Thomas G.... Lanctot C. (J. Biol. Chem. 2003)
  2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
  3. Musclin, a novel skeletal muscle-derived secretory factor. (PubMed id 15044443)1, 2 Nishizawa H.... Shimomura I. (J. Biol. Chem. 2004)
  4. Osteocrin is a specific ligand of the natriuretic Peptide clearance receptor that modulates bone growth. (PubMed id 17951249)1 Moffatt P....LanctA't C. (J. Biol. Chem. 2007)
  5. Foxo1 represses expression of musclin, a skeletal muscle-derived secretory factor. (PubMed id 17950246)1 Yasui A....Shimomura I. (Biochem. Biophys. Res. Commun. 2007)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. Characterization of osteocrin expression in human bone. (PubMed id 15923362)9 Bord S....Compston J.E. (J. Histochem. Cytochem. 2005)
  9. Competitive binding of musclin to natriuretic peptide receptor 3 with atrial natriuretic peptide. (PubMed id 19244276)9 Kita S....Shimomura I. (J. Endocrinol. 2009)
  10. Musclin gene expression is strongly related to fast-glycolytic phenotype. (PubMed id 17189616)9 Banzet S....Bigard A.X. (Biochem. Biophys. Res. Commun. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 344901 HGNC: 29961 AceView: OSTN Ensembl:ENSG00000188729 euGenes: HUgn344901
ECgene: OSTN H-InvDB: OSTN

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for OSTN Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for OSTN gene:
Search GeneIP for patents involving OSTN

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search Addgene for plasmids for OSTN
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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