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    BMP4 bone morphogenetic protein 4 [ Homo sapiens (human) ]

    Gene ID: 652, updated on 23-Sep-2016
    Official Symbol
    BMP4provided by HGNC
    Official Full Name
    bone morphogenetic protein 4provided by HGNC
    Primary source
    HGNC:HGNC:1071
    See related
    Ensembl:ENSG00000125378 HPRD:00207; MIM:112262; Vega:OTTHUMG00000140303
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZYME; BMP2B; OFC11; BMP2B1; MCOPS6
    Summary
    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 regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    14q22-q23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (53949736..53956862, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (54416454..54423554, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984676 Neighboring gene microRNA 5580 Neighboring gene ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1 Neighboring gene uncharacterized LOC105370507 Neighboring gene uncharacterized LOC105370505

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2012-04-04)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Genome-wide association scan of dental caries in the permanent dentition.
    NHGRI GWA Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    NHGRI GWA Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
    NHGRI GWA Catalog
    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • BMP signaling, organism-specific biosystem (from KEGG)
      BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • BMP signaling, conserved biosystem (from KEGG)
      BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Basal cell carcinoma, organism-specific biosystem (from KEGG)
      Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Basal cell carcinoma, conserved biosystem (from KEGG)
      Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Elastic fibre formation, organism-specific biosystem (from REACTOME)
      Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Glypican 3 network, organism-specific biosystem (from Pathway Interaction Database)
      Glypican 3 network, organism-specific biosystem
      Glypican 3 network
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
      Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
      Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chemoattractant activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    co-receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    BMP signaling pathway involved in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    BMP signaling pathway involved in heart induction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    BMP signaling pathway involved in nephric duct formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway involved in renal system segmentation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    BMP signaling pathway involved in ureter morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of MAPKK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anterior/posterior axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT apoptotic process involved in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    branching involved in prostate gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    branching involved in ureteric bud morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    branching morphogenesis of an epithelial tube IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bronchus development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bud dilation involved in lung branching IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bud elongation involved in lung branching IEA
    Inferred from Electronic Annotation
    more info
     
    NOT cardiac jelly development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    NOT cardiac right ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac septum development TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cloacal septation IEA
    Inferred from Electronic Annotation
    more info
     
    common-partner SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    coronary vasculature development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cranial suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    deltoid tuberosity development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal joint morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cushion development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endochondral ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cell proliferation involved in lung morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial tube branching involved in lung morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial-mesenchymal cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    glomerular capillary formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glomerular visceral epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic progenitor cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inner ear receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    intermediate mesodermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lens induction in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    lung alveolus development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lung morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lymphoid progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    macrophage differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mammary gland formation IEA
    Inferred from Electronic Annotation
    more info
     
    membranous septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchymal cell differentiation involved in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal cell proliferation involved in ureter development IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal cell proliferation involved in ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal to epithelial transition involved in metanephros morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mesodermal cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    mesonephros development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    metanephric collecting duct development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    monocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT muscular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of T cell differentiation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of branching involved in ureteric bud morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation involved in heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of glomerular mesangial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of glomerulus development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of immature T cell proliferation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mesenchymal cell proliferation involved in ureter development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of metanephric S-shaped body morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of metanephric comma-shaped body morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of striated muscle tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of thymocyte apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pharyngeal arch artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of DNA-dependent DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of SMAD protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of branching involved in lung morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cardiac muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cartilage development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation involved in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of collagen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epidermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of kidney development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ossification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of pri-miRNA transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-embryonic development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pulmonary artery endothelial tube morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of branching involved in prostate gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    renal system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    renal system process IEA
    Inferred from Electronic Annotation
    more info
     
    secondary heart field specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    smooth muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smoothened signaling pathway IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    specification of organ position IEA
    Inferred from Electronic Annotation
    more info
     
    specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid hormone mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telencephalon development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telencephalon regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    tendon cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    trachea development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trachea formation IEA
    Inferred from Electronic Annotation
    more info
     
    type B pancreatic cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ureter epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ureter smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ureteric bud development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    bone morphogenetic protein 4
    Names
    bone morphogenetic protein 2B
    bone morphogenetic protein 4 preproprotein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009215.1 RefSeqGene

      Range
      4975..12101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001202.4NP_001193.2  bone morphogenetic protein 4 preproprotein

      See identical proteins and their annotated locations for NP_001193.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BQ083000, BU683974, BX161385, M22490
      Consensus CDS
      CCDS9715.1
      UniProtKB/Swiss-Prot
      P12644
      UniProtKB/TrEMBL
      Q53XC5
      Related
      ENSP00000245451, OTTHUMP00000178992, ENST00000245451, OTTHUMT00000276894
      Conserved Domains (2) summary
      smart00204
      Location:308408
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:41275
      TGFb_propeptide; TGF-beta propeptide
    2. NM_130850.3NP_570911.2  bone morphogenetic protein 4 preproprotein

      See identical proteins and their annotated locations for NP_570911.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC020546, BQ083000, BU683974, BX161385
      Consensus CDS
      CCDS9715.1
      UniProtKB/Swiss-Prot
      P12644
      UniProtKB/TrEMBL
      Q53XC5
      Related
      ENSP00000453485, OTTHUMP00000247950, ENST00000559087, OTTHUMT00000417538
      Conserved Domains (2) summary
      smart00204
      Location:308408
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:41275
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      53949736..53956862 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021604.1XP_016877093.1  

    2. XM_005268015.4XP_005268072.1  

      See identical proteins and their annotated locations for XP_005268072.1

      UniProtKB/Swiss-Prot
      P12644
      UniProtKB/TrEMBL
      Q53XC5
      Conserved Domains (2) summary
      smart00204
      Location:308408
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:41275
      TGFb_propeptide; TGF-beta propeptide
    3. XM_017021605.1XP_016877094.1  

    4. XM_017021603.1XP_016877092.1  

      Related
      ENSP00000394165, ENST00000417573
      Conserved Domains (2) summary
      smart00204
      Location:308408
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:41275
      TGFb_propeptide; TGF-beta propeptide

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      54355438..54362564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_130851.2: Suppressed sequence

      Description
      NM_130851.2: This RefSeq was removed because currently there is not sufficient data to support this transcript.
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