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Aliases for BMP7 Gene

Aliases for BMP7 Gene

  • Bone Morphogenetic Protein 7 2 3 5
  • Osteogenic Protein 1 2 3 4
  • OP-1 3 4
  • Eptotermin Alfa 4
  • BMP-7 4
  • 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 Pauci-Immune Glomerulonephritis and Renal Fibrosis. Among its related pathways are GPCR Pathway and PEDF Induced Signaling. GO annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP5.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for BMP7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP7 Gene

Genomics for BMP7 Gene

Regulatory Elements for BMP7 Gene

Enhancers for BMP7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G057325 0.9 ENCODE 17.9 -59.7 -59651 1.9 HDGF PKNOX1 NFIB SIN3A YBX1 BMI1 RAD21 ZBTB40 ZBTB7B ZNF207 BMP7 RPL39P39 MIR4325
GH20G057261 0.9 ENCODE 17.1 +4.0 3993 4.4 ATF1 FOXA2 DMAP1 ZNF48 GLIS2 SP5 PPARGC1A SMARCA4 GLIS1 MXD3 BMP7 RBM38 PIR47382
GH20G057265 0.9 ENCODE 15.9 +0.7 719 1.2 INSM2 NFXL1 GLIS2 ZNF366 ETV6 KLF7 U2AF2 BCLAF1 EGR2 ZNF263 BMP7 RBM38 PIR47382
GH20G057291 0.5 ENCODE 28.3 -24.6 -24579 0.1 ZNF579 CTCF CTBP1 ZNF207 RAD21 BMP7 ENSG00000226308 PIR49257 GC20M057284 GC20P057313
GH20G057388 2 FANTOM5 Ensembl ENCODE dbSUPER 5.9 -128.7 -128725 13.2 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A DMAP1 YBX1 ZBTB7B ZNF766 ZBP1 LOC100291105 BMP7 CASS4 RBM38 PMEPA1 MTRNR2L3 PIR61563
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMP7 on UCSC Golden Path with GeneCards custom track

Genomic Location for BMP7 Gene

Chromosome:
20
Start:
57,168,748 bp from pter
End:
57,266,651 bp from pter
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 posLast=187187, Asn302, Asn321, and Asn372
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP7 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BMP7 (BMP7)

Assay Products

  • Abcam assays for BMP7

No data available for DME Specific Peptides for BMP7 Gene

Domains & Families for BMP7 Gene

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

GENATLAS Biochemistry:
bone morphogenetic protein 7 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily)
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.

LifeMap Function Summary for BMP7 Gene

During embryonic development, BMP7 as signaling molecule is secreted from the following cells
It affects the following cells:
BMP7 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for BMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA,IEA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 9872992
GO:0008083 growth factor activity IEA --
GO:0008201 heparin binding IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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 2
cytoskeleton 2
mitochondrion 2
nucleus 2
golgi apparatus 2
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IDA 17977014
GO:0031012 extracellular matrix IEA --
GO:0031982 vesicle IEA --
genes like me logo Genes that share ontologies with BMP7: view

Pathways & Interactions for BMP7 Gene

genes like me logo Genes that share pathways with BMP7: view

SIGNOR curated interactions for BMP7 Gene

Activates:
Inactivates:
Is activated 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

(28) 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 2171
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2935
Cytarabine Approved, Investigational Pharma 1117
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 273
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1751

(22) 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

Unigene Clusters for BMP7 Gene

Bone morphogenetic protein 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
BMP7

Expression for BMP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for BMP7 Gene



Protein tissue co-expression partners for BMP7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BMP7 Gene:

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(4.7)
  • Bone(3)
  • Kidney(2.6)
  • Eye(2.2)
  • Muscle(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with BMP7: view

Primer Products

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 34 35
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia BMP7 34 35
  • 92.73 (n)
dog
(Canis familiaris)
Mammalia BMP7 34 35
  • 92.5 (n)
oppossum
(Monodelphis domestica)
Mammalia BMP7 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMP7 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmp7 34 16 35
  • 90.31 (n)
rat
(Rattus norvegicus)
Mammalia Bmp7 34
  • 89.84 (n)
chicken
(Gallus gallus)
Aves BMP7 34 35
  • 81.72 (n)
lizard
(Anolis carolinensis)
Reptilia BMP7 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp7.1 34
  • 76.11 (n)
MGC76016 34
African clawed frog
(Xenopus laevis)
Amphibia bmp7-prov 34
zebrafish
(Danio rerio)
Actinopterygii bmp7b 34 35
  • 77.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta gbb 36 34
  • 54.7 (n)
scw 36
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000824 34
  • 50.86 (n)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 36
  • 32 (a)
Species where no ortholog for BMP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for BMP7 Gene

Paralogs for BMP7 Gene

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

genes like me logo Genes that share paralogs with BMP7: view

Variants for BMP7 Gene

Sequence variations from dbSNP and Humsavar for BMP7 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs112344257 Uncertain significance 57,202,483(-) GGAGA(C/T)GCTGG reference, missense
rs540533068 Uncertain significance 57,183,780(+) TTCTG(C/G/T)CTGCG reference, missense
rs755895161 Uncertain significance 57,265,789(+) GGTAC(C/T)GAAGA reference, missense
rs1000069852 -- 57,256,642(+) GCGGG(G/T)GGATA intron-variant
rs1000074303 -- 57,225,309(+) AGGGG(A/G)ATTGG intron-variant

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)

Relevant External Links for BMP7 Gene

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

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

Disorders for BMP7 Gene

MalaCards: The human disease database

(21) 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

Relevant External Links for BMP7

Genetic Association Database (GAD)
BMP7
Human Genome Epidemiology (HuGE) Navigator
BMP7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP7
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. Expression and characterization of a human BMP-7 variant with improved biochemical properties. (PMID: 17977014) Swencki-Underwood B. … Amegadzie B. (Protein Expr. Purif. 2008) 3 4 22 64
  2. Progesterone decreases bone morphogenetic protein (BMP) 7 expression and BMP7 inhibits decidualization and proliferation in endometrial stromal cells. (PMID: 20085912) Kodama A. … Taketani Y. (Hum. Reprod. 2010) 3 22 64
  3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  4. Investigation of the association of BMP gene variants with nephropathy in Type 1 diabetes mellitus. (PMID: 20546278) McKnight A.J. … Maxwell A.P. (Diabet. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for BMP7 Gene

Sources for BMP7 Gene

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