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

Gene ID: 652, updated on 5-Mar-2024

Summary

Go to the top of the page Help

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AEBP1 promotes papillary thyroid cancer progression by activating BMP4 signaling.
Title: AEBP1 promotes papillary thyroid cancer progression by activating BMP4 signaling.
BMP4 up-regulated by 630 nm LED irradiation is associated with the amelioration of rheumatoid arthritis.
Title: BMP4 up-regulated by 630 nm LED irradiation is associated with the amelioration of rheumatoid arthritis.
BMP4 participates in the pathogenesis of PCOS by regulating glucose metabolism and autophagy in granulosa cells under hyperandrogenic environment.
Title: BMP4 participates in the pathogenesis of PCOS by regulating glucose metabolism and autophagy in granulosa cells under hyperandrogenic environment.
BMP4 inhibits corneal neovascularization by interfering with tip cells in angiogenesis.
Title: BMP4 inhibits corneal neovascularization by interfering with tip cells in angiogenesis.
BMP4 Regulates EMT to be Involved in non-Syndromic Cleft lip With or Without Palate.
Title: BMP4 Regulates EMT to be Involved in non-Syndromic Cleft lip With or Without Palate.
The Impact of BMP-4 Tissue Expression on Progression and Survival in Breast Cancer.
Title: The Impact of BMP-4 Tissue Expression on Progression and Survival in Breast Cancer.
Protein Kinase C Modulation Determines the Mesoderm/Extraembryonic Fate Under BMP4 Induction From Human Pluripotent Stem Cells.
Title: Protein Kinase C Modulation Determines the Mesoderm/Extraembryonic Fate Under BMP4 Induction From Human Pluripotent Stem Cells.
BMP4-SMAD1/5/9-RUNX2 pathway activation inhibits neurogenesis and oligodendrogenesis in Alzheimer's patients' iPSCs in senescence-related conditions.
Title: BMP4-SMAD1/5/9-RUNX2 pathway activation inhibits neurogenesis and oligodendrogenesis in Alzheimer's patients' iPSCs in senescence-related conditions.
The Role of Bone Morphogenetic Protein 4 in Lung Diseases.
Title: The Role of Bone Morphogenetic Protein 4 in Lung Diseases.
BMP4 is insufficient to differentiate umbilical cord mesenchymal stem cells into germ cell-like cells in vitro.
Title: BMP4 is insufficient to differentiate umbilical cord mesenchymal stem cells into germ cell-like cells in vitro.

Submit: New GeneRIF Correction See all GeneRIFs (388)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

BMP4_296 (e-PCR)
- UniSTS:277036

G15892 (e-PCR)
- UniSTS:65077

Bmp4 (e-PCR), detects polymorphism
- UniSTS:532293

SHGC-57004 (e-PCR)
- UniSTS:3192

Bmp4 (e-PCR), detects polymorphism
- UniSTS:506753

RH47295 (e-PCR)
- UniSTS:14466

RH66828 (e-PCR)
- UniSTS:66257

Bmp4 (e-PCR), detects polymorphism
- UniSTS:526068

MARC_5761-5762:996690803:2 (e-PCR)
- UniSTS:269563

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

Go to the top of the page Help

Preferred Names: bone morphogenetic protein 4

Names: bone morphogenetic protein 2B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_009215.1 RefSeqGene

Range

5012..12101

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001202.6 → NP_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:308 → 408

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:41 → 275

TGFb_propeptide; TGF-beta propeptide
NM_001347912.1 → NP_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
NM_001347913.2 → NP_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
NM_001347914.2 → NP_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
NM_001347915.2 → NP_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
NM_001347916.1 → NP_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
NM_001347917.1 → NP_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
NM_130850.5 → NP_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:308 → 408

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:41 → 275

TGFb_propeptide; TGF-beta propeptide
NM_130851.4 → NP_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