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Protein

Bone morphogenetic protein 4

Gene

BMP4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • BMP receptor binding Source: MGI
  • chemoattractant activity Source: UniProtKB
  • co-receptor binding Source: BHF-UCL
  • cytokine activity Source: MGI
  • growth factor activity Source: UniProtKB-KW
  • heparin binding Source: Ensembl
  • transforming growth factor beta receptor binding Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCytokine, Developmental protein, Growth factor
Biological processChondrogenesis, Differentiation, Osteogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P12644

SIGNOR Signaling Network Open Resource

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SIGNORi
P12644

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Bone morphogenetic protein 4
Short name:
BMP-4
Alternative name(s):
Bone morphogenetic protein 2B
Short name:
BMP-2B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BMP4
Synonyms:BMP2B, DVR4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000125378.15

Human Gene Nomenclature Database

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HGNCi
HGNC:1071 BMP4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
112262 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12644

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Microphthalmia, syndromic, 6 (MCOPS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
See also OMIM:607932
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04353293E → G in MCOPS6. 1 PublicationCorresponds to variant dbSNP:rs121912765EnsemblClinVar.1
Non-syndromic orofacial cleft 11 (OFC11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
See also OMIM:600625
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04353191S → C in OFC11; also found in renal hypodysplasia patients. 3 PublicationsCorresponds to variant dbSNP:rs121912767EnsemblClinVar.1
Natural variantiVAR_058315162R → Q in OFC11. 1 PublicationCorresponds to variant dbSNP:rs770493925Ensembl.1
Natural variantiVAR_058317287R → H in OFC11. 1 PublicationCorresponds to variant dbSNP:rs121912768EnsemblClinVar.1
Natural variantiVAR_058318346A → V in OFC11. 1 PublicationCorresponds to variant dbSNP:rs121912766EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNET

More...
DisGeNETi
652

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
BMP4

MalaCards human disease database

More...
MalaCardsi
BMP4
MIMi600625 phenotype
607932 phenotype

Open Targets

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OpenTargetsi
ENSG00000125378

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
199306 Cleft lip/palate
139471 Microphthalmia with brain and digit anomalies
93100 Renal agenesis, unilateral

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25381

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5350

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BMP4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
115073

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003385620 – 292Add BLAST273
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000033857293 – 408Bone morphogenetic protein 4Add BLAST116

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei91Phosphoserine; by FAM20C1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi143N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi208N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi308 ↔ 373By similarity
Disulfide bondi337 ↔ 405By similarity
Disulfide bondi341 ↔ 407By similarity
Glycosylationi350N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi365N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi372InterchainBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P12644

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P12644

PeptideAtlas

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PeptideAtlasi
P12644

PRoteomics IDEntifications database

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PRIDEi
P12644

ProteomicsDB human proteome resource

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ProteomicsDBi
52861

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P12644

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P12644

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000125378 Expressed in 144 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_BMP4

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P12644 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P12644 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB006863
HPA066235

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked (By similarity). Interacts with GREM2. Part of a complex consisting of TWSG1 and CHRD. Interacts with the serine proteases, HTRA1 and HTRA3; the interaction with either inhibits BMP4-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity). Interacts with SOSTDC1. Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631).By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
BMPR1AP368942EBI-1998134,EBI-1029237

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107120, 93 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P12644

Database of interacting proteins

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DIPi
DIP-5795N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P12644

Protein interaction database and analysis system

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IntActi
P12644, 11 interactors

Molecular INTeraction database

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MINTi
P12644

STRING: functional protein association networks

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STRINGi
9606.ENSP00000245451

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P12644

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P12644

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3900 Eukaryota
ENOG410XT8Z LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159502

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000249478

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004860

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P12644

KEGG Orthology (KO)

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KOi
K04662

Identification of Orthologs from Complete Genome Data

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OMAi
QGFHRIN

Database of Orthologous Groups

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OrthoDBi
1314811at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P12644

TreeFam database of animal gene trees

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TreeFami
TF351789

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.10.90.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS

The PANTHER Classification System

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PANTHERi
PTHR11848 PTHR11848, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00019 TGF_beta, 1 hit
PF00688 TGFb_propeptide, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00204 TGFB, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57501 SSF57501, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

P12644-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIPGNRMLMV VLLCQVLLGG ASHASLIPET GKKKVAEIQG HAGGRRSGQS
60 70 80 90 100
HELLRDFEAT LLQMFGLRRR PQPSKSAVIP DYMRDLYRLQ SGEEEEEQIH
110 120 130 140 150
STGLEYPERP ASRANTVRSF HHEEHLENIP GTSENSAFRF LFNLSSIPEN
160 170 180 190 200
EVISSAELRL FREQVDQGPD WERGFHRINI YEVMKPPAEV VPGHLITRLL
210 220 230 240 250
DTRLVHHNVT RWETFDVSPA VLRWTREKQP NYGLAIEVTH LHQTRTHQGQ
260 270 280 290 300
HVRISRSLPQ GSGNWAQLRP LLVTFGHDGR GHALTRRRRA KRSPKHHSQR
310 320 330 340 350
ARKKNKNCRR HSLYVDFSDV GWNDWIVAPP GYQAFYCHGD CPFPLADHLN
360 370 380 390 400
STNHAIVQTL VNSVNSSIPK ACCVPTELSA ISMLYLDEYD KVVLKNYQEM

VVEGCGCR
Length:408
Mass (Da):46,555
Last modified:October 1, 1989 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i79B01179DBB98204
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YLW3H0YLW3_HUMAN
Bone morphogenetic protein 4
BMP4
271Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YM53H0YM53_HUMAN
Bone morphogenetic protein 4
BMP4
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YMP9H0YMP9_HUMAN
Bone morphogenetic protein 4
BMP4
104Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYF1V9GYF1_HUMAN
Bone morphogenetic protein 4
BMP4
29Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04353191S → C in OFC11; also found in renal hypodysplasia patients. 3 PublicationsCorresponds to variant dbSNP:rs121912767EnsemblClinVar.1
Natural variantiVAR_04353293E → G in MCOPS6. 1 PublicationCorresponds to variant dbSNP:rs121912765EnsemblClinVar.1
Natural variantiVAR_058314102T → A1 PublicationCorresponds to variant dbSNP:rs202159001EnsemblClinVar.1
Natural variantiVAR_043533116T → S in a renal hypodysplasia patient. 1 PublicationCorresponds to variant dbSNP:rs750427266Ensembl.1
Natural variantiVAR_043534150N → K in a renal hypodysplasia patient. 1 PublicationCorresponds to variant dbSNP:rs767216159Ensembl.1
Natural variantiVAR_016174152V → A4 PublicationsCorresponds to variant dbSNP:rs17563EnsemblClinVar.1
Natural variantiVAR_058315162R → Q in OFC11. 1 PublicationCorresponds to variant dbSNP:rs770493925Ensembl.1
Natural variantiVAR_058316168G → A1 Publication1
Natural variantiVAR_043535225T → A1 PublicationCorresponds to variant dbSNP:rs144556455Ensembl.1
Natural variantiVAR_043536226R → W1 PublicationCorresponds to variant dbSNP:rs140590144EnsemblClinVar.1
Natural variantiVAR_058317287R → H in OFC11. 1 PublicationCorresponds to variant dbSNP:rs121912768EnsemblClinVar.1
Natural variantiVAR_058318346A → V in OFC11. 1 PublicationCorresponds to variant dbSNP:rs121912766EnsemblClinVar.1
Natural variantiVAR_043537367S → T1 PublicationCorresponds to variant dbSNP:rs1320581580Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M22490 mRNA Translation: AAA51835.1
U43842 Genomic DNA Translation: AAC72278.1
BC020546 mRNA Translation: AAH20546.1
D30751 mRNA Translation: BAA06410.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9715.1

Protein sequence database of the Protein Information Resource

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PIRi
C37278 BMHU4

NCBI Reference Sequences

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RefSeqi
NP_001193.2, NM_001202.5
NP_001334843.1, NM_001347914.1
NP_001334845.1, NM_001347916.1
NP_570911.2, NM_130850.4
NP_570912.2, NM_130851.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.68879

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000245451; ENSP00000245451; ENSG00000125378
ENST00000417573; ENSP00000394165; ENSG00000125378
ENST00000558984; ENSP00000454134; ENSG00000125378
ENST00000559087; ENSP00000453485; ENSG00000125378

Database of genes from NCBI RefSeq genomes

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GeneIDi
652

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:652

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Bone morphogenetic protein 4 entry

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M22490 mRNA Translation: AAA51835.1
U43842 Genomic DNA Translation: AAC72278.1
BC020546 mRNA Translation: AAH20546.1
D30751 mRNA Translation: BAA06410.1
CCDSiCCDS9715.1
PIRiC37278 BMHU4
RefSeqiNP_001193.2, NM_001202.5
NP_001334843.1, NM_001347914.1
NP_001334845.1, NM_001347916.1
NP_570911.2, NM_130850.4
NP_570912.2, NM_130851.3
UniGeneiHs.68879

3D structure databases

ProteinModelPortaliP12644
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107120, 93 interactors
CORUMiP12644
DIPiDIP-5795N
ELMiP12644
IntActiP12644, 11 interactors
MINTiP12644
STRINGi9606.ENSP00000245451

Chemistry databases

BindingDBiP12644
ChEMBLiCHEMBL5350

PTM databases

iPTMnetiP12644
PhosphoSitePlusiP12644

Polymorphism and mutation databases

BioMutaiBMP4
DMDMi115073

Proteomic databases

jPOSTiP12644
PaxDbiP12644
PeptideAtlasiP12644
PRIDEiP12644
ProteomicsDBi52861

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
652
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245451; ENSP00000245451; ENSG00000125378
ENST00000417573; ENSP00000394165; ENSG00000125378
ENST00000558984; ENSP00000454134; ENSG00000125378
ENST00000559087; ENSP00000453485; ENSG00000125378
GeneIDi652
KEGGihsa:652

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
652
DisGeNETi652
EuPathDBiHostDB:ENSG00000125378.15

GeneCards: human genes, protein and diseases

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GeneCardsi
BMP4
GeneReviewsiBMP4
HGNCiHGNC:1071 BMP4
HPAiCAB006863
HPA066235
MalaCardsiBMP4
MIMi112262 gene
600625 phenotype
607932 phenotype
neXtProtiNX_P12644
OpenTargetsiENSG00000125378
Orphaneti199306 Cleft lip/palate
139471 Microphthalmia with brain and digit anomalies
93100 Renal agenesis, unilateral
PharmGKBiPA25381

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00940000159502
HOGENOMiHOG000249478
HOVERGENiHBG004860
InParanoidiP12644
KOiK04662
OMAiQGFHRIN
OrthoDBi1314811at2759
PhylomeDBiP12644
TreeFamiTF351789

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
SignaLinkiP12644
SIGNORiP12644

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
BMP4 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Bone_morphogenetic_protein_4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
652

Protein Ontology

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PROi
PR:P12644

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125378 Expressed in 144 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_BMP4
ExpressionAtlasiP12644 baseline and differential
GenevisibleiP12644 HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
PF00688 TGFb_propeptide, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBMP4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P12644
Secondary accession number(s): Q9UM80
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1989
Last modified: January 16, 2019
This is version 208 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
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