BMP7 bone morphogenetic protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMP7provided by HGNC
Official Full Name: bone morphogenetic protein 7provided by HGNC
Primary source: HGNC:HGNC:1074
See related: Ensembl:ENSG00000101144 MIM:112267; AllianceGenome:HGNC:1074
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OP-1
Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]
Expression: Biased expression in thyroid (RPKM 30.0), placenta (RPKM 15.8) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.31

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (57168753..57266641, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (58946552..59044382, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (55743809..55841697, complement)

Chromosome 20 - NC_000020.11 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 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?

Genetic predisposition of BMP7 polymorphisms to lumbar disk herniation in the Chinese Han population.
Title: Genetic predisposition of BMP7 polymorphisms to lumbar disk herniation in the Chinese Han population.
Impact of Bone Morphogenetic Protein 7 and Prostaglandin receptors on osteoblast healing and organization of collagen.
Title: Impact of Bone Morphogenetic Protein 7 and Prostaglandin receptors on osteoblast healing and organization of collagen.
SCUBE1 promotes pulmonary artery smooth muscle cell proliferation and migration in acute pulmonary embolism by modulating BMP7.
Title: SCUBE1 promotes pulmonary artery smooth muscle cell proliferation and migration in acute pulmonary embolism by modulating BMP7.
BMP7 expression in mammalian cortical radial glial cells increases the length of the neurogenic period.
Title: BMP7 expression in mammalian cortical radial glial cells increases the length of the neurogenic period.
High BMP7 expression is associated with poor prognosis in ovarian cancer.
Title: High BMP7 expression is associated with poor prognosis in ovarian cancer.
Conserved miR-370-3p/BMP-7 axis regulates the phenotypic change of human vascular smooth muscle cells.
Title: Conserved miR-370-3p/BMP-7 axis regulates the phenotypic change of human vascular smooth muscle cells.
Potential Therapeutic Role of Bone Morphogenic Protein 7 (BMP7) in the Pathogenesis of Graves' Orbitopathy.
Title: Potential Therapeutic Role of Bone Morphogenic Protein 7 (BMP7) in the Pathogenesis of Graves' Orbitopathy.
Lysine (K)-specific demethylase 5C regulates the incidence of severe preeclampsia by adjusting the expression of bone morphogenetic protein-7.
Title: Lysine (K)-specific demethylase 5C regulates the incidence of severe preeclampsia by adjusting the expression of bone morphogenetic protein-7.
Immunohistochemical analysis revealed the expression of bone morphogenetic proteins-4, 6, 7, and 9 in human induced membrane samples treated with the Masquelet technique.
Title: Immunohistochemical analysis revealed the expression of bone morphogenetic proteins-4, 6, 7, and 9 in human induced membrane samples treated with the Masquelet technique.
BMP7 increases protein synthesis in SW1353 cells and determines rRNA levels in a NKX3-2-dependent manner.
Title: BMP7 increases protein synthesis in SW1353 cells and determines rRNA levels in a NKX3-2-dependent manner.

Submit: New GeneRIF Correction See all GeneRIFs (228)

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

EBI GWAS Catalog

Description
A genomewide association study of citalopram response in major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 reduces osteoblast function and significantly decreases the levels of BMP-7 and RANK-L	PubMed
Pr55(Gag)	gag	HIV-1 Gag reduces osteoblast function and significantly reduces the levels of BMP-2, BMP-7, osteocalcin, and RANK-L	PubMed
Tat	tat	Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat induces significantly higher secretion of BMP-2 and BMP-7 ligands when compared with that of untreated cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78681 (e-PCR)
- UniSTS:42257

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

BMP7 (e-PCR)
- UniSTS:262742

SHGC-11943 (e-PCR)
- UniSTS:83030

D15S1477 (e-PCR)
- UniSTS:474482

Bmp7 (e-PCR), detects polymorphism
- UniSTS:186500

BMP7_1982 (e-PCR)
- UniSTS:280464

RH92030 (e-PCR)
- UniSTS:89754

RH66106 (e-PCR)
- UniSTS:58306

RH122846 (e-PCR)
- UniSTS:135144

D5S1597E (e-PCR)
- UniSTS:151019

Z94370 (e-PCR)
- UniSTS:44027

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in allantois development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ameloblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in branching morphogenesis of an epithelial tube	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to BMP stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
involved_in chorio-allantoic fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite development	TAS Traceable Author Statement more info	PubMed
involved_in embryonic camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic pattern specification	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal joint morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial to mesenchymal transition	TAS Traceable Author Statement more info	PubMed
involved_in heart trabecula morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in hindbrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchymal cell apoptotic process involved in nephron morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in mesenchyme development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesoderm formation	IEA Inferred from Electronic Annotation more info
involved_in mesonephros development	IEP Inferred from Expression Pattern more info	PubMed
involved_in metanephric mesenchymal cell proliferation involved in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in metanephric mesenchyme morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in metanephros development	IEP Inferred from Expression Pattern more info	PubMed
involved_in monocyte aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of glomerular mesangial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitotic nuclear division	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of non-canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of prostatic bud formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of striated muscle cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in nephrogenic mesenchyme morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in neural fold elevation formation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neuron projection morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in pericardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pharyngeal system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of brown fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendrite development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial to mesenchymal transition	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of hyaluranon cable assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of branching involved in prostate gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of removal of superoxide radicals	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin D	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed
involved_in ureteric bud development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: bone morphogenetic protein 7

Names: osteogenic protein 1

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.

Genomic

NG_032771.1 RefSeqGene

Range

5011..102899

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001719.3 → NP_001710.1 bone morphogenetic protein 7 preproprotein

See identical proteins and their annotated locations for NP_001710.1

Status: REVIEWED

Source sequence(s)

AK291186, AL157414, BM683430, DA740733

Consensus CDS

CCDS13455.1

UniProtKB/Swiss-Prot

P18075, Q9H512, Q9NTQ7

UniProtKB/TrEMBL

A8K571, B2ZPJ8

Related

ENSP00000379204.3, ENST00000395863.8

Conserved Domains (2) summary

pfam00688
Location:35 → 280

TGFb_propeptide; TGF-beta propeptide

cd19397
Location:325 → 431

TGF_beta_BMP7; transforming growth factor beta (TGF-beta) like domain found in bone morphogenetic protein 7 (BMP-7) and similar proteins