U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 652, updated on 10-Jun-2024

    Summary

    Official Symbol
    BMP4provided by HGNC
    Official Full Name
    bone morphogenetic protein 4provided by HGNC
    Primary source
    HGNC:HGNC:1071
    See related
    Ensembl:ENSG00000125378 MIM:112262; AllianceGenome:HGNC:1071
    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]
    Expression
    Broad expression in placenta (RPKM 12.6), urinary bladder (RPKM 7.5) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BMP4 in Genome Data Viewer
    Location:
    14q22.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (53949736..53956891, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (48157959..48165118, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (54416454..54423609, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8408 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:54409816-54410443 Neighboring gene enhancer downstream of BMP4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:54412534-54413066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:54413067-54413597 Neighboring gene BMP4 promoter region Neighboring gene uncharacterized LOC124903317 Neighboring gene microRNA 5580 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:54449077-54449856 Neighboring gene ATP synthase F1 subunit gamma pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8409 Neighboring gene uncharacterized LOC105370507 Neighboring gene NANOG hESC enhancer GRCh37_chr14:54551221-54551722 Neighboring gene uncharacterized LOC105370505

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Anophthalmia-microphthalmia syndrome
    MedGen: C5680330 GeneReviews: Not available
    Compare labs
    Microphthalmia with brain and digit anomalies
    MedGen: C1864689 OMIM: 607932 GeneReviews: Not available
    Compare labs
    Orofacial cleft 11
    MedGen: C2677434 OMIM: 600625 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-11-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2021-11-09)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association scan of dental caries in the permanent dentition.
    EBI GWAS Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chemoattractant activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables co-receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ameloblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anterior/posterior axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in apoptotic process involved in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in branching involved in prostate gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in ureteric bud morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within bronchus development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within bud dilation involved in lung branching IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in bud elongation involved in lung branching IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in cardiac jelly development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in cardiac right ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac septum development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in coronary vasculature development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cranial suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in deltoid tuberosity development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal joint morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endochondral ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within epithelial cell proliferation involved in lung morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epithelial-mesenchymal cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular capillary formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart induction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hematopoietic progenitor cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermediate mesodermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lens induction in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lung alveolus development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within lung morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lung vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lymphoid progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in macrophage differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mammary gland formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membranous septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesodermal cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesonephros development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in muscular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T cell differentiation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of branching involved in ureteric bud morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of extrinsic apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of glomerular mesangial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of glomerulus development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of immature T cell proliferation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mesenchymal cell proliferation involved in ureter development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of metanephric S-shaped body morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of metanephric comma-shaped body morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of striated muscle tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of thymocyte apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of vascular associated smooth muscle cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in nephric duct formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pericyte cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pharyngeal arch artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of branching involved in lung morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cardiac muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of cartilage development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of collagen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epidermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of odontoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of ossification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of p38MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of primary miRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of programmed cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_positive_effect positive regulation of protein localization to nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within post-embryonic development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of branching involved in prostate gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of mesodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in regulation of miRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in secondary heart field specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sinoatrial node development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth muscle tissue development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in smooth muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in specification of animal organ position IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within telencephalon development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telencephalon regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tendon cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within trachea development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in trachea formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type B pancreatic cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ureter morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within ureteric bud development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein 4
    Names
    bone morphogenetic protein 2B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5012..12101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001202.6NP_001193.2  bone morphogenetic protein 4 isoform a preproprotein

      See identical proteins and their annotated locations for NP_001193.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses the P1 promoter and encodes isoform a.
      Source sequence(s)
      AL138479, BU683974, BX161385, M22490
      Consensus CDS
      CCDS9715.1
      UniProtKB/Swiss-Prot
      P12644, Q9UM80
      UniProtKB/TrEMBL
      Q53XC5
      Related
      ENSP00000245451.4, ENST00000245451.9
      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_001347912.1NP_001334841.1  bone morphogenetic protein 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate splice sites and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (b) has a distinct and longer N-terminus, compared to isoform a.
      Source sequence(s)
      AL138479, BE877424
    3. NM_001347913.2NP_001334842.1  bone morphogenetic protein 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AL138479
      UniProtKB/TrEMBL
      A0A097PIE4
    4. NM_001347914.2NP_001334843.1  bone morphogenetic protein 4 isoform a preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate promoter and differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AL138479, BX161385
      Consensus CDS
      CCDS9715.1
      UniProtKB/Swiss-Prot
      P12644, Q9UM80
      UniProtKB/TrEMBL
      Q53XC5
      Related
      ENSP00000454134.1, ENST00000558984.1
    5. NM_001347915.2NP_001334844.1  bone morphogenetic protein 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate promoter, differs in the 5' UTR, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AL138479
      UniProtKB/TrEMBL
      A0A097PIE4
    6. NM_001347916.1NP_001334845.1  bone morphogenetic protein 4 isoform a preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AL138479
      Consensus CDS
      CCDS9715.1
      UniProtKB/Swiss-Prot
      P12644, Q9UM80
      UniProtKB/TrEMBL
      Q53XC5
    7. NM_001347917.1NP_001334846.1  bone morphogenetic protein 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AL138479
      UniProtKB/TrEMBL
      A0A097PIE4
    8. NM_130850.5NP_570911.2  bone morphogenetic protein 4 isoform a 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.
      Source sequence(s)
      AL138479
      Consensus CDS
      CCDS9715.1
      UniProtKB/Swiss-Prot
      P12644, Q9UM80
      UniProtKB/TrEMBL
      Q53XC5
      Related
      ENSP00000453485.1, ENST00000559087.5
      Conserved Domains (2) summary
      smart00204
      Location:308408
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:41275
      TGFb_propeptide; TGF-beta propeptide
    9. NM_130851.4NP_570912.2  bone morphogenetic protein 4 isoform a preproprotein

      See identical proteins and their annotated locations for NP_570912.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses the P2 promoter and differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AL138479, BU683974, BX161385
      UniProtKB/Swiss-Prot
      P12644, Q9UM80
      UniProtKB/TrEMBL
      Q53XC5
      Related
      ENSP00000394165.1, ENST00000417573.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      53949736..53956891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      48157959..48165118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)