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Aliases for BMP3 Gene

Aliases for BMP3 Gene

  • Bone Morphogenetic Protein 3 2 3 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 Dentine Erosion and Chromosome 4Q21 Deletion Syndrome. Among its related pathways are DREAM Repression and Dynorphin Expression and Activation of cAMP-Dependent PKA. GO annotations related to this gene include receptor binding and growth factor activity. An important paralog of this gene is GDF10.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP3 Gene

Genomics for BMP3 Gene

Regulatory Elements for BMP3 Gene

Enhancers for BMP3 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
GH04F081002 0.5 ENCODE 11.7 -26.9 -26915 1.7 BMI1 EBF1 CHD2 MTA2 BHLHE40 TRIM22 TBX21 EP300 JUND RAD51 BMP3 GC04P080708
GH04F081052 0.2 ENCODE 10.9 +21.9 21868 0.5 CTCF TBL1XR1 BMI1 EBF1 RAD21 RELA POLR2A CBX5 EED HNF4G BMP3 LOC101928942
GH04F080990 0.2 ENCODE 10.9 -40.5 -40491 0.1 ELF3 CTCF REST RAD21 POLR2A SMC3 ZNF143 MAFK BMP3 GC04P080708
GH04F080566 0.5 Ensembl 10.7 -463.8 -463822 0.8 ZNF146 C4orf22 BMP3 GC04P080582 LOC105377305
GH04F080471 1.2 Ensembl ENCODE 10.1 -558.8 -558802 0.8 IRF2 POLR2A FOXA3 YY1 BMP3 C4orf22 GC04M080460 LOC105377305
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BMP3 on UCSC Golden Path with GeneCards custom track

Promoters for BMP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001860813 278 1001 FEZF1 ZBTB48 ZNF366 SCRT2 PRDM10 ZNF548 ZBTB20 EZH2 MAZ ZNF362

Genomic Location for BMP3 Gene

Chromosome:
4
Start:
81,030,622 bp from pter
End:
81,057,531 bp from pter
Size:
26,910 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 Ser 68, Thr 75, Asn 117, Asn 141, Asn 175, Asn 220, and Asn 463
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for BMP3

No data available for DME Specific Peptides for BMP3 Gene

Domains & Families for BMP3 Gene

Gene Families for BMP3 Gene

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

GENATLAS Biochemistry:
bone morphogenetic protein 3 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily)
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.

Gene Ontology (GO) - Molecular Function for BMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding TAS 3201241
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
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

miRNA for BMP3 Gene

miRTarBase miRNAs that target BMP3

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for BMP3 Gene COMPARTMENTS Subcellular localization image for BMP3 gene
Compartment Confidence
extracellular 5
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

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 --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with BMP3: view

Pathways & Interactions for BMP3 Gene

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

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

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BMP3 Gene

Bone morphogenetic protein 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with BMP3: view

Primer Products

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 34 35
  • 98.73 (n)
dog
(Canis familiaris)
Mammalia BMP3 34 35
  • 85.45 (n)
cow
(Bos Taurus)
Mammalia BMP3 34 35
  • 84.82 (n)
mouse
(Mus musculus)
Mammalia Bmp3 34 16 35
  • 81.72 (n)
rat
(Rattus norvegicus)
Mammalia Bmp3 34
  • 81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BMP3 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BMP3 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP3 34 35
  • 68.78 (n)
lizard
(Anolis carolinensis)
Reptilia BMP3 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp3 34
  • 63.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26502 34
zebrafish
(Danio rerio)
Actinopterygii bmp3 34 35
  • 60.59 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-129 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for BMP3 Gene

Paralogs for BMP3 Gene

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 Sequence Context AA Info Type
rs10002189 -- 81,040,543(+) CCCTG(A/C)TCTCT intron-variant
rs10005851 -- 81,050,816(+) AAATA(A/C)CACAG intron-variant
rs10007784 -- 81,056,536(+) TTTCT(C/T)AATAA utr-variant-3-prime
rs10019046 -- 81,042,806(+) GAGTG(G/T)CTTCT intron-variant
rs10019455 -- 81,056,576(+) GCCAA(A/T)GTCAA utr-variant-3-prime

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)

Relevant External Links for BMP3 Gene

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

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

Disorders for BMP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BMP3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dentine erosion
chromosome 4q21 deletion syndrome
  • 4q21 microdeletion syndrome
maturity-onset diabetes of the young
  • mason-type diabetes
- elite association - COSMIC cancer census association via MalaCards
Search BMP3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BMP3

Genetic Association Database (GAD)
BMP3
Human Genome Epidemiology (HuGE) Navigator
BMP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP3
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 G.P. … Choe S. (Biochemistry 2007) 3 4 22 64
  2. Expression of bone morphogenetic proteins, receptors, and tissue inhibitors in human fetal, adult, and osteoarthritic articular cartilage. (PMID: 15475196) Chen A.L. … Di Cesare P.E. (J. Orthop. Res. 2004) 3 4 22 64
  3. BMP signaling components are expressed in human fracture callus. (PMID: 13678778) Kloen P. … Goumans M.J. (Bone 2003) 3 4 22 64
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  5. BMP-3 promotes mesenchymal stem cell proliferation through the TGF-beta/activin signaling pathway. (PMID: 20143330) Stewart A. … Yang K. (J. Cell. Physiol. 2010) 3 22 64

Products for BMP3 Gene

Sources for BMP3 Gene

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