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

Gene ID: 652, updated on 17-Jun-2018
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; 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]
Expression
Broad expression in placenta (RPKM 12.6), urinary bladder (RPKM 7.5) and 20 other tissues See more
Orthologs
See BMP4 in Genome Data Viewer
Location:
14q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (53949736..53956891, 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 enhancer downstream of BMP4 Neighboring gene BMP4 promoter region Neighboring gene microRNA 5580 Neighboring gene ATP synthase F1 subunit gamma pseudogene 1 Neighboring gene uncharacterized LOC105370507 Neighboring gene uncharacterized LOC105370505

  • 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 Jun 15 11:32:44 2016

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.
  • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
    Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
  • Differentiation of white and brown adipocyte, organism-specific biosystem (from WikiPathways)
    Differentiation of white and brown adipocyte, organism-specific biosystemDevelopment of white versus brown adipocytes (figure from Handbook of Obesity). Transcription factors and nuclear regulators controlling the development of white versus brown adipocytes are shown in ...
  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • 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...
  • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • 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...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • 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 Receptor Signaling, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling, 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
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
 
endoderm development IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
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 gene expression IDA
Inferred from Direct Assay
more info
PubMed 
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 pri-miRNA transcription by RNA polymerase II 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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II 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 ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of SMAD protein signal transduction 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 cardiac neural crest cell migration involved in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 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 epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression 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 IBA
Inferred from Biological aspect of Ancestor
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 production of miRNAs involved in gene silencing by miRNA IDA
Inferred from Direct Assay
more info
PubMed 
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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 
post-translational protein modification TAS
Traceable Author Statement
more info
 
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 MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
NOT regulation of pri-miRNA transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein import into nucleus IDA
Inferred from Direct Assay
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
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 animal 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
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
bone morphogenetic protein 4
Names
bone morphogenetic protein 2B

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
    4946..12101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001202.5NP_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
    UniProtKB/TrEMBL
    Q53XC5
    Related
    ENSP00000245451.4, OTTHUMP00000178992, ENST00000245451.8, 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_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_001347913.1NP_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
  4. NM_001347914.1NP_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
    UniProtKB/TrEMBL
    Q53XC5
    Related
    ENSP00000454134.1, ENST00000558984.1
  5. NM_001347915.1NP_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
  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
    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
  8. NM_130850.4NP_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, BC020546, BU683974, BX161385
    Consensus CDS
    CCDS9715.1
    UniProtKB/Swiss-Prot
    P12644
    UniProtKB/TrEMBL
    Q53XC5
    Related
    ENSP00000453485.1, OTTHUMP00000247950, ENST00000559087.5, OTTHUMT00000417538
    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_130851.3NP_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
    UniProtKB/TrEMBL
    Q53XC5
    Related
    ENSP00000394165.1, ENST00000417573.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

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