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

Gene ID: 652, updated on 5-Aug-2026
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
Try the new Gene page
Try the new Transcripts and proteins table
See BMP4 in Genome Data Viewer
Location:
14q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (53949736..53956891, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (48157959..48165118, complement)
RS_2024_09 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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2025-04-23)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2025-04-23)

ClinGen Genome Curation Page

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables BMP receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables chemoattractant activity IDA
Inferred from Direct Assay
more info
PubMed 
enables co-receptor binding IEA
Inferred from Electronic Annotation
more info
 
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 cytokine activity IEA
Inferred from Electronic Annotation
more info
 
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 aortic valve morphogenesis 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 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 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary vasculature development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in deltoid tuberosity development IEA
Inferred from Electronic Annotation
more info
 
involved_in deltoid tuberosity development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion development 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 IEA
Inferred from Electronic Annotation
more info
 
involved_in endochondral ossification ISS
Inferred from Sequence or Structural Similarity
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 tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in glomerular capillary formation 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 IEA
Inferred from Electronic Annotation
more info
 
involved_in heart induction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 intermediate mesodermal cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
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 membranous septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in membranous septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mesoderm development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mesonephros development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in monocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in muscular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in myeloid leukocyte differentiation IEA
Inferred from Electronic Annotation
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 branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of extrinsic apoptotic signaling pathway 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 
involved_in negative regulation of multicellular organismal process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of myoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of smooth muscle cell proliferation 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 odontogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in outflow tract septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pharyngeal arch artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in pharyngeal arch artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of BMP signaling pathway 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 DNA-templated transcription 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 IEA
Inferred from Electronic Annotation
more info
 
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 
involved_in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
 
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 differentiation IEA
Inferred from Electronic Annotation
more info
 
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 gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of odontoblast 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 p38MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
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 pulmonary valve morphogenesis 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 ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cardiac muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell fate commitment IDA
Inferred from Direct Assay
more info
PubMed 
NOT involved_in regulation of miRNA transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of protein import into nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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 tissue development 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 stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within telencephalon development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in telencephalon development IEA
Inferred from Electronic Annotation
more info
 
involved_in tendon cell differentiation 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 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
 
is_active_in extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
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
 
Preferred Names
bone morphogenetic protein 4
Names
bone morphogenetic protein 2B

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
  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, ENST00000558984.2
  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
  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
    Related
    ENSP00000560866.1, ENST00000890807.1
  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_130850.5NP_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, ENST00000559087.6
    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_2025_08

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)