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 homo... See more...

Aliases for BMP7 Gene

Aliases for BMP7 Gene

  • Bone Morphogenetic Protein 7 2 3 4 5
  • Osteogenic Protein 1 2 3 4
  • OP-1 2 3 4
  • Eptotermin Alfa 4
  • BMP-7 4
  • BMP7 5
  • OP1 4

External Ids for BMP7 Gene

Previous GeneCards Identifiers for BMP7 Gene

  • GC20M055473
  • GC20M056382
  • GC20M056430
  • GC20M055178
  • GC20M055743
  • GC20M052525

Summaries for BMP7 Gene

Entrez Gene Summary for BMP7 Gene

  • 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]

GeneCards Summary for BMP7 Gene

BMP7 (Bone Morphogenetic Protein 7) is a Protein Coding gene. Diseases associated with BMP7 include Renal Fibrosis and Spondylolisthesis. Among its related pathways are Degradation of the extracellular matrix and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP5.

UniProtKB/Swiss-Prot Summary for BMP7 Gene

  • Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. Promotes brown adipocyte differentiation by P38 MAPK pathway-mediated activation of target genes, including members of the SOX family of transcription factors (PubMed:27923061).

Gene Wiki entry for BMP7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP7 Gene

Genomics for BMP7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BMP7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP7

Top Transcription factor binding sites by QIAGEN in the BMP7 gene promoter:
  • AP-1
  • ATF
  • ATF-2
  • c-Jun
  • CRE-BP1
  • MyoD

Genomic Locations for BMP7 Gene

Genomic Locations for BMP7 Gene
chr20:57,168,753-57,266,641
(GRCh38/hg38)
Size:
97,889 bases
Orientation:
Minus strand
chr20:55,743,804-55,841,707
(GRCh37/hg19)
Size:
97,904 bases
Orientation:
Minus strand

Genomic View for BMP7 Gene

Genes around BMP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP7 Gene

Proteins for BMP7 Gene

  • Protein details for BMP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18075-BMP7_HUMAN
    Recommended name:
    Bone morphogenetic protein 7
    Protein Accession:
    P18075
    Secondary Accessions:
    • Q9H512
    • Q9NTQ7

    Protein attributes for BMP7 Gene

    Size:
    431 amino acids
    Molecular mass:
    49313 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with SOSTDC1. Interacts with TWSG1 (By similarity). Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631).

    Three dimensional structures from OCA and Proteopedia for BMP7 Gene

neXtProt entry for BMP7 Gene

Post-translational modifications for BMP7 Gene

  • Several N-termini starting at positions 293, 300, 315 and 316 have been identified by direct sequencing resulting in secretion of different mature forms.
  • Glycosylation at Asn187, Asn302, Asn321, and Asn372
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP7 Gene

Antibody Products

  • Abcam antibodies for BMP7

No data available for DME Specific Peptides for BMP7 Gene

Domains & Families for BMP7 Gene

Gene Families for BMP7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for BMP7 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
ProtoNet:

Suggested Antigen Peptide Sequences for BMP7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92758, Homo sapiens bone morphogenetic protein 7 (osteogenic protein 1)(BMP7), mRNA (A8K571_HUMAN)
  • Bone morphogenetic protein 7 (Osteogenic protein 1) (B1AL01_HUMAN)
  • Osteogenic protein 1 (BMP7_HUMAN)
  • Bone morphogenetic protein 7 (Q9H2W7_HUMAN)
  • Bone morphogenetic protein 7 (Q9NQQ8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P18075

UniProtKB/Swiss-Prot:

BMP7_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP7: view

Function for BMP7 Gene

Molecular function for BMP7 Gene

UniProtKB/Swiss-Prot Function:
Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. Promotes brown adipocyte differentiation by P38 MAPK pathway-mediated activation of target genes, including members of the SOX family of transcription factors (PubMed:27923061).
GENATLAS Biochemistry:
bone morphogenetic protein 7 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily)

LifeMap Function Summary for BMP7 Gene

During embryonic development, BMP7 as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for BMP7 Gene

Gene Ontology (GO) - Molecular Function for BMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0005515 protein binding IPI 9872992
GO:0008083 growth factor activity IEA --
GO:0008201 heparin binding IEA --
GO:0070700 BMP receptor binding IBA 21873635
genes like me logo Genes that share ontologies with BMP7: view
genes like me logo Genes that share phenotypes with BMP7: view

Animal Models for BMP7 Gene

MGI Knock Outs for BMP7:
  • Bmp7 Bmp7<tm1.2Dgra>
  • Bmp7 Bmp7<tm1Kry>
  • Bmp7 Bmp7<tm1Rob>
  • Bmp7 Bmp7<tm1a(EUCOMM)Hmgu>
  • Bmp7 Bmp7<tm2Rob>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BMP7 Gene

Localization for BMP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP7 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMP7 gene
Compartment Confidence
extracellular 5
plasma membrane 3
mitochondrion 3
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA,IDA 17977014
GO:0031982 vesicle IEA --
GO:0062023 collagen-containing extracellular matrix IEA --
genes like me logo Genes that share ontologies with BMP7: view

Pathways & Interactions for BMP7 Gene

PathCards logo

SuperPathways for BMP7 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.57
.51
.47
.46
.43
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
4 TGF-Beta Pathway
.60
.60
.57
.51
.43
.41
5 ERK Signaling
.61
.61
.58
.51
.49
genes like me logo Genes that share pathways with BMP7: view

Pathways by source for BMP7 Gene

1 R&D Systems pathway for BMP7 Gene
73 Qiagen pathways for BMP7 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
1 Cell Signaling Technology pathway for BMP7 Gene

SIGNOR curated interactions for BMP7 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 2357959
GO:0001503 ossification IEA --
GO:0001654 eye development IEA --
GO:0001656 metanephros development IEP 18437684
GO:0001657 ureteric bud development ISS --
genes like me logo Genes that share ontologies with BMP7: view

Drugs & Compounds for BMP7 Gene

(32) Drugs for BMP7 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist Anti-inflammatory glucocorticoid 2886
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
Cytarabine Approved, Experimental, Investigational Pharma 1335
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 383
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2029

(18) Additional Compounds for BMP7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BMP7: view

Transcripts for BMP7 Gene

mRNA/cDNA for BMP7 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP7

Alternative Splicing Database (ASD) splice patterns (SP) for BMP7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a · 12b
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - -
SP5: - - - -
SP6: - - -
SP7:
SP8: -

Relevant External Links for BMP7 Gene

GeneLoc Exon Structure for
BMP7

Expression for BMP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BMP7 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BMP7 Gene



Protein tissue co-expression partners for BMP7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMP7

SOURCE GeneReport for Unigene cluster for BMP7 Gene:

Hs.473163

mRNA Expression by UniProt/SwissProt for BMP7 Gene:

P18075-BMP7_HUMAN
Tissue specificity: Expressed in the kidney and bladder. Lower levels seen in the brain.

Evidence on tissue expression from TISSUES for BMP7 Gene

  • Nervous system(4.8)
  • Bone(3.2)
  • Skin(3)
  • Kidney(3)
  • Muscle(2.9)
  • Eye(2.8)
  • Thyroid gland(2.8)
  • Heart(2.7)
  • Bone marrow(2.6)
  • Blood(2.5)
  • Lung(2.5)
  • Liver(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with BMP7: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP7 Gene

Orthologs for BMP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BMP7 30 31
  • 99.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BMP7 30 31
  • 92.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BMP7 30 31
  • 92.5 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BMP7 31
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BMP7 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Bmp7 30 17 31
  • 90.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bmp7 30
  • 89.84 (n)
Chicken
(Gallus gallus)
Aves BMP7 30 31
  • 81.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BMP7 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bmp7.1 30
  • 76.11 (n)
MGC76016 30
African clawed frog
(Xenopus laevis)
Amphibia bmp7-prov 30
Zebrafish
(Danio rerio)
Actinopterygii bmp7b 30 31
  • 77.45 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta gbb 30 32
  • 54.7 (n)
scw 32
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000824 30
  • 50.86 (n)
Worm
(Caenorhabditis elegans)
Secernentea dbl-1 32
  • 32 (a)
Species where no ortholog for BMP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BMP7 Gene

ENSEMBL:
Gene Tree for BMP7 (if available)
TreeFam:
Gene Tree for BMP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BMP7: view image

Paralogs for BMP7 Gene

(10) SIMAP similar genes for BMP7 Gene using alignment to 7 proteins:

  • BMP7_HUMAN
  • A8K571_HUMAN
  • B1AKZ9_HUMAN
  • B1AL00_HUMAN
  • H0Y4B5_HUMAN
  • Q9H2W7_HUMAN
  • Q9NQQ8_HUMAN
genes like me logo Genes that share paralogs with BMP7: view

Variants for BMP7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP7 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
667563 Benign: not provided 57,228,631(-) C/T INTRON_VARIANT
667564 Benign: not provided 57,228,093(-) C/T INTRON_VARIANT
710157 Benign: not provided 57,171,040(-) G/A SYNONYMOUS_VARIANT
710158 Benign: not provided 57,174,925(-) C/T INTRON_VARIANT
714821 Benign: not provided 57,228,384(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BMP7 Gene

Structural Variations from Database of Genomic Variants (DGV) for BMP7 Gene

Variant ID Type Subtype PubMed ID
esv1010828 CNV deletion 20482838
esv1062572 CNV deletion 17803354
esv24660 CNV loss 19812545
esv2668178 CNV deletion 23128226
esv2673209 CNV deletion 23128226
esv2722598 CNV deletion 23290073
esv2722599 CNV deletion 23290073
esv2722600 CNV deletion 23290073
esv3646209 CNV loss 21293372
esv3646210 CNV loss 21293372
nsv1055983 CNV gain 25217958
nsv1072123 CNV deletion 25765185
nsv523091 CNV loss 19592680

Variation tolerance for BMP7 Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMP7 Gene

Human Gene Mutation Database (HGMD)
BMP7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP7 Gene

Disorders for BMP7 Gene

MalaCards: The human disease database

(42) MalaCards diseases for BMP7 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BMP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BMP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMP7 Gene

Publications for BMP7 Gene

  1. Bone morphogenetic protein 7 (BMP7) gene polymorphisms are associated with inverse relationships between vascular calcification and BMD: the Diabetes Heart Study. (PMID: 19453255) Freedman BI … Carr JJ (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 23 41
  2. Expression and characterization of a human BMP-7 variant with improved biochemical properties. (PMID: 17977014) Swencki-Underwood B … Amegadzie B (Protein expression and purification 2008) 3 4 23
  3. Three-dimensional structure of recombinant human osteogenic protein 1: structural paradigm for the transforming growth factor beta superfamily. (PMID: 8570652) Griffith DL … Carlson WD (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 23
  4. A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7. (PMID: 1427904) Hahn GV … Kaplan FS (Genomics 1992) 2 3 23
  5. Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone. (PMID: 2263636) Celeste AJ … Wozney JM (Proceedings of the National Academy of Sciences of the United States of America 1990) 3 4 23

Products for BMP7 Gene

  • Addgene plasmids for BMP7

Sources for BMP7 Gene