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UniProtKB - P12643 (BMP2_HUMAN)

Protein

Bone morphogenetic protein 2

Gene

BMP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Induces cartilage and bone formation (PubMed:3201241). Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 (PubMed:24362451).2 Publications

GO - Molecular functioni

  • BMP receptor binding Source: MGI
  • co-receptor binding Source: BHF-UCL
  • cytokine activity Source: GO_Central
  • growth factor activity Source: UniProtKB-KW
  • phosphatase activator activity Source: MGI
  • protein heterodimerization activity Source: MGI
  • retinol dehydrogenase activity Source: UniProtKB
  • signaling receptor binding Source: ProtInc
  • SMAD binding Source: BHF-UCL
  • transforming growth factor beta receptor binding Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8939902 Regulation of RUNX2 expression and activity
SignaLinkiP12643
SIGNORiP12643

Names & Taxonomyi

Protein namesi
Recommended name:
Bone morphogenetic protein 2
Short name:
BMP-2
Alternative name(s):
Bone morphogenetic protein 2A
Short name:
BMP-2A
Gene namesi
Name:BMP2
Synonyms:BMP2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125845.6
HGNCiHGNC:1069 BMP2
MIMi112261 gene
neXtProtiNX_P12643

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

Secreted

Pathology & Biotechi

Involvement in diseasei

Brachydactyly A2 (BDA2)2 Publications
The gene represented in this entry is involved in disease pathogenesis. Duplications of a cis-regulatory element located approximately 110 kb downstream of BMP2 have been found in BDA2 families. They likely cause altered BMP2 expression with pathological consequences.2 Publications
Disease descriptionA form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.
See also OMIM:112600
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (SSFSC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract.
See also OMIM:617877
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08074227 – 396Missing in SSFSC. 1 PublicationAdd BLAST370
Natural variantiVAR_080743154 – 396Missing in SSFSC. 1 PublicationAdd BLAST243
Natural variantiVAR_080744329 – 396Missing in SSFSC. 1 PublicationAdd BLAST68

Pharmaceutical usei

Available under the name Infuse (Medtronic Sofamor Danek). Used for treating open tibial shaft fractures.

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi650
MalaCardsiBMP2
MIMi112600 phenotype
617877 phenotype
OpenTargetsiENSG00000125845
Orphaneti261295 20p12.3 microdeletion syndrome
93396 Brachydactyly type A2
PharmGKBiPA25379

Chemistry databases

ChEMBLiCHEMBL1926496

Polymorphism and mutation databases

BioMutaiBMP2
DMDMi115068

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
PropeptideiPRO_000003382424 – 282Cleaved by PCSK5Add BLAST259
ChainiPRO_0000033825283 – 396Bone morphogenetic protein 2Add BLAST114

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei87PhosphoserineBy similarity1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi164N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi200N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi296 ↔ 361
Disulfide bondi325 ↔ 393
Disulfide bondi329 ↔ 395
Glycosylationi338N-linked (GlcNAc...) (high mannose) asparagine1 Publication1
Disulfide bondi360Interchain

Keywords - PTMi

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

Proteomic databases

EPDiP12643
PaxDbiP12643
PeptideAtlasiP12643
PRIDEiP12643
ProteomicsDBi52860

PTM databases

iPTMnetiP12643
PhosphoSitePlusiP12643

Expressioni

Tissue specificityi

Particularly abundant in lung, spleen and colon and in low but significant levels in heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, ovary and small intestine.

Gene expression databases

BgeeiENSG00000125845 Expressed in 186 organ(s), highest expression level in thyroid gland
CleanExiHS_BMP2
ExpressionAtlasiP12643 baseline and differential
GenevisibleiP12643 HS

Organism-specific databases

HPAiCAB078457
HPA058610

Interactioni

Subunit structurei

Homodimer; disulfide-linked (PubMed:10074410). Interacts with SOSTDC1 (PubMed:15020244). Interacts with GREM2, RGMA, RGMB and RGMC. Interacts with ASPN (By similarity). Interacts with MAFP5 (By similarity). Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631).By similarity3 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107118, 10 interactors
CORUMiP12643
DIPiDIP-5792N
IntActiP12643, 18 interactors
MINTiP12643
STRINGi9606.ENSP00000368104

Chemistry databases

BindingDBiP12643

Structurei

Secondary structure

1396
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP12643
SMRiP12643
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP12643

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00760000118883
HOGENOMiHOG000249478
HOVERGENiHBG004860
InParanoidiP12643
KOiK21283
OMAiRWTAQGH
OrthoDBiEOG091G0K7Z
PhylomeDBiP12643
TreeFamiTF351789

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

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P12643-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVAGTRCLLA LLLPQVLLGG AAGLVPELGR RKFAAASSGR PSSQPSDEVL 
        60         70         80         90        100
SEFELRLLSM FGLKQRPTPS RDAVVPPYML DLYRRHSGQP GSPAPDHRLE 
       110        120        130        140        150
RAASRANTVR SFHHEESLEE LPETSGKTTR RFFFNLSSIP TEEFITSAEL 
       160        170        180        190        200
QVFREQMQDA LGNNSSFHHR INIYEIIKPA TANSKFPVTR LLDTRLVNQN 
       210        220        230        240        250
ASRWESFDVT PAVMRWTAQG HANHGFVVEV AHLEEKQGVS KRHVRISRSL 
       260        270        280        290        300
HQDEHSWSQI RPLLVTFGHD GKGHPLHKRE KRQAKHKQRK RLKSSCKRHP 
       310        320        330        340        350
LYVDFSDVGW NDWIVAPPGY HAFYCHGECP FPLADHLNST NHAIVQTLVN 
       360        370        380        390 
SVNSKIPKAC CVPTELSAIS MLYLDENEKV VLKNYQDMVV EGCGCR
Length:396
Mass (Da):44,702
Last modified:October 1, 1989 - v1
Checksum:i20653A3987B25E60
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08074227 – 396Missing in SSFSC. 1 PublicationAdd BLAST370
Natural variantiVAR_02006137S → A. Corresponds to variant dbSNP:rs2273073EnsemblClinVar.1
Natural variantiVAR_05256877P → S. Corresponds to variant dbSNP:rs36105541Ensembl.1
Natural variantiVAR_020062106A → T. Corresponds to variant dbSNP:rs2273074Ensembl.1
Natural variantiVAR_080743154 – 396Missing in SSFSC. 1 PublicationAdd BLAST243
Natural variantiVAR_052569161L → S. Corresponds to variant dbSNP:rs34183594Ensembl.1
Natural variantiVAR_024232190R → S. Corresponds to variant dbSNP:rs235768EnsemblClinVar.1
Natural variantiVAR_080744329 – 396Missing in SSFSC. 1 PublicationAdd BLAST68
Natural variantiVAR_052570387D → G. Corresponds to variant dbSNP:rs11545591Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M22489 mRNA Translation: AAA51834.1
AF040249 Genomic DNA Translation: AAF21646.1
AL035668 Genomic DNA No translation available.
CCDSiCCDS13099.1
PIRiB37278 BMHU2
RefSeqiNP_001191.1, NM_001200.3
UniGeneiHs.73853

Genome annotation databases

EnsembliENST00000378827; ENSP00000368104; ENSG00000125845
GeneIDi650
KEGGihsa:650
UCSCiuc002wmu.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Bone morphogenetic protein 2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M22489 mRNA Translation: AAA51834.1
AF040249 Genomic DNA Translation: AAF21646.1
AL035668 Genomic DNA No translation available.
CCDSiCCDS13099.1
PIRiB37278 BMHU2
RefSeqiNP_001191.1, NM_001200.3
UniGeneiHs.73853

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ES7X-ray2.90A/C283-396[»]
1REUX-ray2.65A294-396[»]
1REWX-ray1.86A/B283-396[»]
2GOOX-ray2.20A/D283-396[»]
2H62X-ray1.85A/B283-396[»]
2H64X-ray1.92A283-396[»]
2QJ9X-ray2.44A/B283-396[»]
2QJAX-ray2.60A/B283-396[»]
2QJBX-ray2.50A/B283-396[»]
3BK3X-ray2.70A/B283-396[»]
3BMPX-ray2.70A283-396[»]
4MIDX-ray2.14A283-314[»]
4N1DX-ray1.91A283-305[»]
A362-396[»]
4UHYX-ray3.20A/B283-396[»]
4UHZX-ray2.85A283-396[»]
4UI0X-ray2.80A/B283-396[»]
4UI1X-ray2.35A/B283-396[»]
4UI2X-ray3.15B283-396[»]
ProteinModelPortaliP12643
SMRiP12643
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107118, 10 interactors
CORUMiP12643
DIPiDIP-5792N
IntActiP12643, 18 interactors
MINTiP12643
STRINGi9606.ENSP00000368104

Chemistry databases

BindingDBiP12643
ChEMBLiCHEMBL1926496

PTM databases

iPTMnetiP12643
PhosphoSitePlusiP12643

Polymorphism and mutation databases

BioMutaiBMP2
DMDMi115068

Proteomic databases

EPDiP12643
PaxDbiP12643
PeptideAtlasiP12643
PRIDEiP12643
ProteomicsDBi52860

Protocols and materials databases

DNASUi650
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378827; ENSP00000368104; ENSG00000125845
GeneIDi650
KEGGihsa:650
UCSCiuc002wmu.2 human

Organism-specific databases

CTDi650
DisGeNETi650
EuPathDBiHostDB:ENSG00000125845.6
GeneCardsiBMP2
HGNCiHGNC:1069 BMP2
HPAiCAB078457
HPA058610
MalaCardsiBMP2
MIMi112261 gene
112600 phenotype
617877 phenotype
neXtProtiNX_P12643
OpenTargetsiENSG00000125845
Orphaneti261295 20p12.3 microdeletion syndrome
93396 Brachydactyly type A2
PharmGKBiPA25379
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00760000118883
HOGENOMiHOG000249478
HOVERGENiHBG004860
InParanoidiP12643
KOiK21283
OMAiRWTAQGH
OrthoDBiEOG091G0K7Z
PhylomeDBiP12643
TreeFamiTF351789

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8939902 Regulation of RUNX2 expression and activity
SignaLinkiP12643
SIGNORiP12643

Miscellaneous databases

ChiTaRSiBMP2 human
EvolutionaryTraceiP12643
GeneWikiiBone_morphogenetic_protein_2
GenomeRNAii650
PROiPR:P12643
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125845 Expressed in 186 organ(s), highest expression level in thyroid gland
CleanExiHS_BMP2
ExpressionAtlasiP12643 baseline and differential
GenevisibleiP12643 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
ProtoNetiSearch...

Entry informationi

Entry nameiBMP2_HUMAN
AccessioniPrimary (citable) accession number: P12643
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1989
Last modified: November 7, 2018
This is version 212 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Pharmaceutical, 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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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