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Aliases for BMP4 Gene

Aliases for BMP4 Gene

  • Bone Morphogenetic Protein 4 2 3
  • BMP2B 3 4 6
  • Bone Morphogenetic Protein 2B 3 4
  • BMP2B1 3 6
  • MCOPS6 3 6
  • BMP-2B 3 4
  • OFC11 3 6
  • BMP-4 3 4
  • Zyme 3
  • DVR4 4

External Ids for BMP4 Gene

Previous HGNC Symbols for BMP4 Gene

  • BMP2B

Previous GeneCards Identifiers for BMP4 Gene

  • GC14M051739
  • GC14M048212
  • GC14M052406
  • GC14M053486
  • GC14M054416
  • GC14M034579

Summaries for BMP4 Gene

Entrez Gene Summary for BMP4 Gene

  • The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for BMP4 Gene

BMP4 (Bone Morphogenetic Protein 4) is a Protein Coding gene. Diseases associated with BMP4 include microphthalmia, syndromic 6 and orofacial cleft 11. Among its related pathways are TGF-Beta Pathway and TGF-Beta Pathway. GO annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP2.

UniProtKB/Swiss-Prot for BMP4 Gene

  • Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).

Gene Wiki entry for BMP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP4 Gene

Genomics for BMP4 Gene

Regulatory Elements for BMP4 Gene

Transcription factor binding sites by QIAGEN in the BMP4 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BMP4 Gene

53,949,736 bp from pter
53,958,761 bp from pter
9,026 bases
Minus strand

Genomic View for BMP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BMP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP4 Gene

Proteins for BMP4 Gene

  • Protein details for BMP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Bone morphogenetic protein 4
    Protein Accession:
    Secondary Accessions:
    • Q9UM80

    Protein attributes for BMP4 Gene

    408 amino acids
    Molecular mass:
    46555 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Interacts with GREM2. Part of a complex consisting of TWSG1 and CHRD. Interacts with the serine proteases, HTRA1 and HTRA3; the interaction with either inhibits BMP4-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity). Interacts with SOSTDC1.

neXtProt entry for BMP4 Gene

Proteomics data for BMP4 Gene at MOPED

Post-translational modifications for BMP4 Gene

  • Glycosylation at Asn143, Asn208, Asn350, and Asn365
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BMP4 (BMP4)

Protein Products

No data available for DME Specific Peptides for BMP4 Gene

Domains for BMP4 Gene

Gene Families for BMP4 Gene

Suggested Antigen Peptide Sequences for BMP4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TGF-beta family.
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP4: view

Function for BMP4 Gene

Molecular function for BMP4 Gene

GENATLAS Biochemistry:
bone morphogenetic protein 4 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily),BMP4 expression under MSX2 control,inducing ventralizing signals inhibited by noggin,also inducing apoptosis and chondrogenesis in the chick limb bud,inhibited by FGF4,regulating myogenesis through dosage-dependent PAX3 expression in pre-myogenic cells
UniProtKB/Swiss-Prot Function:
Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).

LifeMap Function Summary for BMP4 Gene

During embryonic development, BMP4 as signaling molecule is secreted from the following cells
It affects the following cells:
BMP4 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for BMP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IDA 14749725
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 12045205
GO:0008083 growth factor activity IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with BMP4: view
genes like me logo Genes that share phenotypes with BMP4: view

Animal Models for BMP4 Gene

MGI Knock Outs for BMP4:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BMP4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for BMP4 Gene

Localization for BMP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for BMP4 Gene COMPARTMENTS Subcellular localization image for BMP4 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BMP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space ISS --
genes like me logo Genes that share ontologies with BMP4: view

Pathways for BMP4 Gene

genes like me logo Genes that share pathways with BMP4: view

PCR Array Products

Gene Ontology (GO) - Biological Process for BMP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 9187146
GO:0000186 activation of MAPKK activity IDA 17600318
GO:0001501 skeletal system development --
GO:0001525 angiogenesis --
GO:0001568 blood vessel development --
genes like me logo Genes that share ontologies with BMP4: view

Compounds for BMP4 Gene

(46) Novoseek inferred chemical compound relationships for BMP4 Gene

Compound -log(P) Hits PubMed IDs
cyclopamine 56.8 1
retinoic acid 48.2 38
tgf beta1 42.2 8
pd 169316 36.8 2
vegf 29.7 36
genes like me logo Genes that share compounds with BMP4: view

Transcripts for BMP4 Gene

Unigene Clusters for BMP4 Gene

Bone morphogenetic protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMP4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c · 5d · 5e · 5f
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - - - - - -
SP5: - -
SP7: -

Relevant External Links for BMP4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BMP4 Gene

mRNA expression in normal human tissues for BMP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for BMP4 Gene

This gene is overexpressed in Tlymphocyte (40.5) and Heart (28.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BMP4 Gene

SOURCE GeneReport for Unigene cluster for BMP4 Gene Hs.68879

mRNA Expression by UniProt/SwissProt for BMP4 Gene

Tissue specificity: Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines
genes like me logo Genes that share expressions with BMP4: view

Expression partners for BMP4 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for BMP4 Gene

Orthologs for BMP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BMP4 35
  • 94.28 (n)
  • 97.55 (a)
BMP4 36
  • 98 (a)
(Canis familiaris)
Mammalia BMP4 35
  • 95.02 (n)
  • 98.04 (a)
BMP4 36
  • 98 (a)
(Mus musculus)
Mammalia Bmp4 35
  • 92.55 (n)
  • 97.54 (a)
Bmp4 16
Bmp4 36
  • 97 (a)
(Pan troglodytes)
Mammalia BMP4 35
  • 99.92 (n)
  • 99.75 (a)
BMP4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Bmp4 35
  • 92.14 (n)
  • 97.54 (a)
(Monodelphis domestica)
Mammalia BMP4 36
  • 88 (a)
(Gallus gallus)
Aves BMP4 35
  • 79.38 (n)
  • 85.79 (a)
BMP4 36
  • 85 (a)
(Anolis carolinensis)
Reptilia BMP4 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp4 35
  • 76.05 (n)
  • 84.42 (a)
Str.490 35
(Danio rerio)
Actinopterygii -- 35
bmp4 35
  • 69.64 (n)
  • 73.54 (a)
bmp4 36
  • 71 (a)
fruit fly
(Drosophila melanogaster)
Insecta dpp 37
  • 42 (a)
dpp 36
  • 29 (a)
(Caenorhabditis elegans)
Secernentea dbl-1 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
Species with no ortholog for BMP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 BMP4 Gene

Gene Tree for BMP4 (if available)
Gene Tree for BMP4 (if available)

Paralogs for BMP4 Gene

Paralogs for BMP4 Gene

genes like me logo Genes that share paralogs with BMP4: view

Variants for BMP4 Gene

Sequence variations from dbSNP and Humsavar for BMP4 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs17563 - 53,950,804(-) CGAGG(C/T)GATCT missense, reference
rs762642 -- 53,956,335(-) GGAGA(G/T)TCTCA intron-variant, upstream-variant-2KB
rs762643 -- 53,956,049(-) CCGCT(A/C)CGGAG intron-variant, upstream-variant-2KB
rs1475942 -- 53,951,293(-) TGTCT(C/G)CATGT intron-variant
rs2032423 -- 53,958,429(-) CTGAG(A/G)CTCAT upstream-variant-2KB

Relevant External Links for BMP4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BMP4 Gene

Disorders for BMP4 Gene

(2) OMIM Diseases for BMP4 Gene (112262)


  • Microphthalmia, syndromic, 6 (MCOPS6) [MIM:607932]: A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269 PubMed:18252212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269 PubMed:19249007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(57) Novoseek inferred disease relationships for BMP4 Gene

Disease -log(P) Hits PubMed IDs
fibrodysplasia ossificans progressiva 84.3 31
ossification heterotopic 60.8 5
carcinoma embryonal 47.5 9
polydactyly, postaxial 36.9 2
cleft palate 33.5 5

Relevant External Links for BMP4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with BMP4: view

No data available for Genatlas for BMP4 Gene

Publications for BMP4 Gene

  1. Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a human placental cDNA library. (PMID: 7579580) Oida S. … Sasaki S. (DNA Seq. 1995) 2 3 4 23
  2. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. (PMID: 19249007) Suzuki S. … Murray J.C. (Am. J. Hum. Genet. 2009) 3 4 23 48
  3. A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population. (PMID: 19557432) Capasso M. … Iolascon A. (J. Cancer Res. Clin. Oncol. 2009) 3 23 48
  4. Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility. (PMID: 19914800) Jianyan L. … Rongsheng L. (Int J Oral Maxillofac Surg 2010) 3 23 48
  5. Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. (PMID: 18771417) Lin J.Y. … Luan R.S. (DNA Cell Biol. 2008) 3 23 48

Products for BMP4 Gene

Sources for BMP4 Gene

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