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 BMP3 Gene

Aliases for BMP3 Gene

  • Bone Morphogenetic Protein 3 2 3 4 5
  • Osteogenin 2 3 4
  • Bone Morphogenetic Protein 3 (Osteogenic) 2 3
  • Bone Morphogenetic Protein 3A 3 4
  • BMP-3A 3 4
  • BMP-3 4
  • BMP3A 4

External Ids for BMP3 Gene

Previous GeneCards Identifiers for BMP3 Gene

  • GC04P081849
  • GC04P082247
  • GC04P082410
  • GC04P082309
  • GC04P081952
  • GC04P077696

Summaries for BMP3 Gene

Entrez Gene Summary for BMP3 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. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]

GeneCards Summary for BMP3 Gene

BMP3 (Bone Morphogenetic Protein 3) is a Protein Coding gene. Diseases associated with BMP3 include Malignant Hemangioma and Dentine Erosion. Among its related pathways are p70S6K Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and growth factor activity. An important paralog of this gene is GDF10.

UniProtKB/Swiss-Prot Summary for BMP3 Gene

  • Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification.

Gene Wiki entry for BMP3 Gene

Additional gene information for BMP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP3 Gene

Genomics for BMP3 Gene

GeneHancer (GH) Regulatory Elements for BMP3 Gene

Promoters and enhancers for BMP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J081030 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.8 805 2.7 ZNF362 ZNF548 GLIS2 ZBTB8A PRDM10 LEF1 ZSCAN4 POLR2A ZBTB20 EZH2 BMP3 HSALNG0035480 piR-37895-116
GH04J081052 Enhancer 1 Ensembl ENCODE 10.9 +21.7 21749 0.7 CTCF JUND ETV6 RELA RAD21 SP1 MLLT1 CREM ZBED1 IKZF1 BMP3 HSALNG0035480 piR-37895-116
GH04J081002 Enhancer 0.8 Ensembl ENCODE 11.7 -26.9 -26914 1.7 ZNF24 MLLT1 IKZF1 BACH1 TRIM22 IKZF2 ZSCAN29 DPF2 ELF1 BCL11A BMP3 RF00017-4340
GH04J080990 Enhancer 0.5 ENCODE 10.9 -40.5 -40490 0.1 CTCF RAD21 ELF3 REST TRIM22 ELF1 SMC3 BMP3 RF00017-4340 piR-61614-082
GH04J080471 Enhancer 0.5 ENCODE 10.1 -558.8 -558810 0.7 ZNF148 FOXA2 POLR2A YY1 IRF2 FOXA1 VEZF1 FOXA3 BMP3 CFAP299 LOC105377305 L13714-343
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMP3 gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • Evi-1
  • GATA-1
  • GATA-2
  • MIF-1
  • MZF-1

Genomic Locations for BMP3 Gene

Genomic Locations for BMP3 Gene
chr4:81,030,622-81,057,632
(GRCh38/hg38)
Size:
27,011 bases
Orientation:
Plus strand
chr4:81,952,119-81,978,685
(GRCh37/hg19)
Size:
26,567 bases
Orientation:
Plus strand

Genomic View for BMP3 Gene

Genes around BMP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP3 Gene

Proteins for BMP3 Gene

  • Protein details for BMP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12645-BMP3_HUMAN
    Recommended name:
    Bone morphogenetic protein 3
    Protein Accession:
    P12645
    Secondary Accessions:
    • Q4VAS5

    Protein attributes for BMP3 Gene

    Size:
    472 amino acids
    Molecular mass:
    53372 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for BMP3 Gene

neXtProt entry for BMP3 Gene

Post-translational modifications for BMP3 Gene

  • Glycosylation at Ser68, Thr69, Thr75, Ser83, Asn117, Asn141, Asn175, Asn220, and Asn463
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BMP3 Gene

Domains & Families for BMP3 Gene

Gene Families for BMP3 Gene

Suggested Antigen Peptide Sequences for BMP3 Gene

GenScript: Design optimal peptide antigens:
  • Osteogenin (BMP3_HUMAN)
  • Bone morphogenetic protein 3 (D7NT62_HUMAN)
  • Bone morphogenetic protein 3 (D7NTB8_HUMAN)
  • Bone morphogenetic protein 3 (D7NTD1_HUMAN)
  • Bone morphogenetic protein 3 (D7NTG9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12645

UniProtKB/Swiss-Prot:

BMP3_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP3: view

Function for BMP3 Gene

Molecular function for BMP3 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification.
UniProtKB/Swiss-Prot Induction:
Highly expressed in fracture tissue, particularly in osteoblasts, osteoclasts and chondroblasts.
GENATLAS Biochemistry:
bone morphogenetic protein 3 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily)

Phenotypes From GWAS Catalog for BMP3 Gene

Gene Ontology (GO) - Molecular Function for BMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 3201241
GO:0005125 cytokine activity IBA 21873635
GO:0005160 transforming growth factor beta receptor binding IBA 21873635
GO:0008083 growth factor activity IEA --
GO:0070700 BMP receptor binding IDA 7811286
genes like me logo Genes that share ontologies with BMP3: view
genes like me logo Genes that share phenotypes with BMP3: view

Animal Models for BMP3 Gene

MGI Knock Outs for BMP3:

Animal Model Products

CRISPR Products

miRNA for BMP3 Gene

miRTarBase miRNAs that target BMP3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BMP3 Gene

Localization for BMP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP3 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 BMP3 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
peroxisome 0
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for BMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with BMP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP3 Gene

Pathways & Interactions for BMP3 Gene

PathCards logo

SuperPathways for BMP3 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
.40
5 ERK Signaling
.61
.61
.58
.51
.49
genes like me logo Genes that share pathways with BMP3: view

Pathways by source for BMP3 Gene

1 BioSystems pathway for BMP3 Gene
1 KEGG pathway for BMP3 Gene
71 Qiagen pathways for BMP3 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

Gene Ontology (GO) - Biological Process for BMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 3201241
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0007267 cell-cell signaling TAS 3201241
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with BMP3: view

No data available for SIGNOR curated interactions for BMP3 Gene

Drugs & Compounds for BMP3 Gene

(3) Drugs for BMP3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for BMP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BMP3: view

Transcripts for BMP3 Gene

mRNA/cDNA for BMP3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) 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 BMP3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMP3 Gene

No ASD Table

Relevant External Links for BMP3 Gene

GeneLoc Exon Structure for
BMP3
ECgene alternative splicing isoforms for
BMP3

Expression for BMP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BMP3 Gene

This gene is overexpressed in Colon - Sigmoid (x8.6), Colon - Transverse (x7.3), Esophagus - Muscularis (x4.8), Nerve - Tibial (x4.5), and Bladder (x4.2).

Protein differential expression in normal tissues from HIPED for BMP3 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BMP3 Gene



Protein tissue co-expression partners for BMP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of BMP3 Gene:

BMP3

SOURCE GeneReport for Unigene cluster for BMP3 Gene:

Hs.387411

mRNA Expression by UniProt/SwissProt for BMP3 Gene:

P12645-BMP3_HUMAN
Tissue specificity: Expressed in adult and fetal cartilage.

Evidence on tissue expression from TISSUES for BMP3 Gene

  • Liver(4.2)
  • Bone(2.4)
  • Muscle(2)
genes like me logo Genes that share expression patterns with BMP3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP3 Gene

Orthologs for BMP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMP3 33 32
  • 98.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BMP3 33 32
  • 85.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BMP3 33 32
  • 84.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bmp3 17 33 32
  • 81.72 (n)
rat
(Rattus norvegicus)
Mammalia Bmp3 32
  • 81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BMP3 33
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BMP3 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP3 33 32
  • 68.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMP3 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp3 32
  • 63.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26502 32
zebrafish
(Danio rerio)
Actinopterygii bmp3 33 32
  • 60.59 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-129 33
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 20 (a)
OneToMany
Species where no ortholog for BMP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 BMP3 Gene

ENSEMBL:
Gene Tree for BMP3 (if available)
TreeFam:
Gene Tree for BMP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BMP3: view image

Paralogs for BMP3 Gene

(11) SIMAP similar genes for BMP3 Gene using alignment to 15 proteins:

  • BMP3_HUMAN
  • D7NT62_HUMAN
  • D7NTB8_HUMAN
  • D7NTD1_HUMAN
  • D7NTG9_HUMAN
  • D7NTK7_HUMAN
  • D7NTK8_HUMAN
  • D7NTK9_HUMAN
  • D7NTP6_HUMAN
  • D7NTR3_HUMAN
  • D7NTU0_HUMAN
  • D7NTU1_HUMAN
  • D7NTU5_HUMAN
  • D7NTV0_HUMAN
  • D7NU02_HUMAN

Pseudogenes.org Pseudogenes for BMP3 Gene

genes like me logo Genes that share paralogs with BMP3: view

Variants for BMP3 Gene

Sequence variations from dbSNP and Humsavar for BMP3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000156707 -- 81,043,278(+) C/T intron_variant
rs10002189 -- 81,040,543(+) A/C intron_variant
rs1000572561 -- 81,034,006(+) T/C intron_variant
rs10005851 -- 81,050,816(+) C/A intron_variant
rs1000591139 -- 81,040,647(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BMP3 Gene

Variant ID Type Subtype PubMed ID
dgv1010e214 CNV loss 21293372
esv3601143 CNV gain 21293372
esv3601147 CNV gain 21293372

Variation tolerance for BMP3 Gene

Residual Variation Intolerance Score: 60.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.94; 79.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMP3 Gene

Human Gene Mutation Database (HGMD)
BMP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP3 Gene

Disorders for BMP3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BMP3 Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BMP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BMP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMP3 Gene

Publications for BMP3 Gene

  1. BMP-3 and BMP-6 structures illuminate the nature of binding specificity with receptors. (PMID: 17924656) Allendorph GP … Choe S (Biochemistry 2007) 3 4 23 56
  2. Expression of bone morphogenetic proteins, receptors, and tissue inhibitors in human fetal, adult, and osteoarthritic articular cartilage. (PMID: 15475196) Chen AL … Di Cesare PE (Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2004) 3 4 23 56
  3. BMP signaling components are expressed in human fracture callus. (PMID: 13678778) Kloen P … Goumans MJ (Bone 2003) 3 4 23 56
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 43 56
  5. Role of BMP3 in progression of gastric carcinoma in Chinese people. (PMID: 20238409) Chen XR … Ye ZY (World journal of gastroenterology 2010) 3 23 56

Products for BMP3 Gene

Sources for BMP3 Gene