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P12644 (BMP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 168. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bone morphogenetic protein 4

Short name=BMP-4
Alternative name(s):
Bone morphogenetic protein 2B
Short name=BMP-2B
Gene names
Name:BMP4
Synonyms:BMP2B, DVR4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length408 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Induces cartilage and bone formation. Also act 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.

Subunit structure

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. Ref.5

Subcellular location

Secretedextracellular spaceextracellular matrix.

Tissue specificity

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

Involvement in disease

Microphthalmia, syndromic, 6 (MCOPS6) [MIM:607932]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the TGF-beta family.

Ontologies

Keywords
   Biological processChondrogenesis
Differentiation
Osteogenesis
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Microphthalmia
   DomainSignal
   Molecular functionCytokine
Developmental protein
Growth factor
   PTMCleavage on pair of basic residues
Disulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processBMP signaling pathway

Inferred from direct assay PubMed 18436533PubMed 9389648. Source: BHF-UCL

BMP signaling pathway involved in heart induction

Inferred from mutant phenotype PubMed 20702560. Source: BHF-UCL

BMP signaling pathway involved in nephric duct formation

Inferred from direct assay PubMed 10021330. Source: UniProtKB

BMP signaling pathway involved in renal system segmentation

Inferred from sequence or structural similarity. Source: UniProtKB

BMP signaling pathway involved in ureter morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

SMAD protein signal transduction

Inferred from direct assay PubMed 17244894. Source: UniProtKB

activation of MAPKK activity

Inferred from direct assay PubMed 17600318PubMed 17992660. Source: UniProtKB

anterior/posterior axis specification

Inferred from electronic annotation. Source: Ensembl

blood vessel endothelial cell proliferation involved in sprouting angiogenesis

Inferred from direct assay PubMed 18787191. Source: BHF-UCL

branching involved in prostate gland morphogenesis

Inferred from electronic annotation. Source: Ensembl

branching involved in ureteric bud morphogenesis

Inferred from direct assay PubMed 12631064. Source: UniProtKB

branching morphogenesis of an epithelial tube

Inferred from direct assay PubMed 10706139. Source: UniProtKB

bronchus development

Inferred from direct assay PubMed 8674409. Source: MGI

bud dilation involved in lung branching

Inferred from direct assay PubMed 8674409. Source: MGI

bud elongation involved in lung branching

Inferred from electronic annotation. Source: Ensembl

cardiac septum development

Traceable author statement PubMed 18076106. Source: BHF-UCL

cellular response to growth factor stimulus

Inferred from electronic annotation. Source: Ensembl

chondrocyte differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

cloacal septation

Inferred from electronic annotation. Source: Ensembl

common-partner SMAD protein phosphorylation

Inferred from direct assay PubMed 20573232. Source: UniProtKB

cranial suture morphogenesis

Inferred from electronic annotation. Source: Ensembl

deltoid tuberosity development

Inferred from sequence or structural similarity. Source: UniProtKB

dorsal/ventral neural tube patterning

Inferred from electronic annotation. Source: Ensembl

embryonic cranial skeleton morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic hindlimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal joint morphogenesis

Inferred from electronic annotation. Source: Ensembl

endocardial cushion development

Traceable author statement PubMed 18076106. Source: BHF-UCL

endochondral ossification

Inferred from sequence or structural similarity. Source: UniProtKB

epithelial cell proliferation involved in lung morphogenesis

Inferred from direct assay PubMed 8674409. Source: MGI

epithelial tube branching involved in lung morphogenesis

Inferred from direct assay PubMed 8674409. Source: MGI

epithelial-mesenchymal cell signaling

Inferred from electronic annotation. Source: Ensembl

erythrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

extracellular matrix organization

Traceable author statement. Source: Reactome

germ cell development

Inferred from electronic annotation. Source: Ensembl

glomerular capillary formation

Inferred from sequence or structural similarity. Source: UniProtKB

glomerular visceral epithelial cell development

Inferred from electronic annotation. Source: Ensembl

hematopoietic progenitor cell differentiation

Inferred from direct assay PubMed 15451575. Source: UniProtKB

inner ear receptor cell differentiation

Inferred from electronic annotation. Source: Ensembl

intermediate mesodermal cell differentiation

Inferred from direct assay PubMed 10021330. Source: UniProtKB

kidney development

Inferred from mutant phenotype Ref.8. Source: UniProtKB

lens induction in camera-type eye

Inferred from electronic annotation. Source: Ensembl

lung alveolus development

Inferred from direct assay PubMed 8674409. Source: MGI

lung morphogenesis

Inferred from direct assay PubMed 8674409. Source: MGI

lymphoid progenitor cell differentiation

Inferred from mutant phenotype PubMed 12421925. Source: BHF-UCL

macrophage differentiation

Inferred from direct assay PubMed 21149635. Source: DFLAT

mammary gland formation

Inferred from electronic annotation. Source: Ensembl

mesenchymal cell differentiation involved in kidney development

Inferred from electronic annotation. Source: Ensembl

mesenchymal cell proliferation involved in ureter development

Inferred from electronic annotation. Source: Ensembl

mesenchymal cell proliferation involved in ureteric bud development

Inferred from electronic annotation. Source: Ensembl

mesenchymal to epithelial transition involved in metanephros morphogenesis

Inferred from direct assay PubMed 10706139. Source: UniProtKB

mesodermal cell fate determination

Inferred from electronic annotation. Source: Ensembl

mesonephros development

Inferred from expression pattern PubMed 18437684. Source: UniProtKB

metanephric collecting duct development

Inferred from sequence or structural similarity. Source: UniProtKB

monocyte differentiation

Inferred from direct assay PubMed 21149635. Source: DFLAT

negative regulation of MAP kinase activity

Inferred from direct assay PubMed 17244894. Source: UniProtKB

negative regulation of T cell differentiation in thymus

Inferred from mutant phenotype PubMed 12421925. Source: BHF-UCL

negative regulation of apoptotic process

Inferred from direct assay PubMed 17992660. Source: UniProtKB

negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway

Inferred from direct assay PubMed 10706139PubMed 17118062. Source: UniProtKB

negative regulation of branching involved in ureteric bud morphogenesis

Inferred from direct assay PubMed 12141440PubMed 17118062. Source: UniProtKB

negative regulation of cell cycle

Inferred from direct assay PubMed 11502704. Source: HGNC

negative regulation of cell death

Inferred from direct assay PubMed 12631064. Source: UniProtKB

negative regulation of cell proliferation

Inferred from direct assay PubMed 9187146. Source: MGI

negative regulation of cell proliferation involved in heart morphogenesis

Inferred from mutant phenotype PubMed 20702560. Source: BHF-UCL

negative regulation of chondrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of epithelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of glomerular mesangial cell proliferation

Inferred from direct assay PubMed 17244894. Source: UniProtKB

negative regulation of glomerulus development

Inferred from direct assay PubMed 12141440. Source: UniProtKB

negative regulation of immature T cell proliferation in thymus

Inferred from mutant phenotype PubMed 12421925. Source: BHF-UCL

negative regulation of mesenchymal cell proliferation involved in ureter development

Inferred from direct assay PubMed 12399320. Source: UniProtKB

negative regulation of metanephric S-shaped body morphogenesis

Inferred from direct assay PubMed 12141440. Source: UniProtKB

negative regulation of metanephric comma-shaped body morphogenesis

Inferred from direct assay PubMed 12141440. Source: UniProtKB

negative regulation of mitosis

Inferred from direct assay PubMed 17244894. Source: UniProtKB

negative regulation of myoblast differentiation

Inferred from direct assay PubMed 14749725. Source: MGI

negative regulation of phosphorylation

Inferred from direct assay PubMed 17244894. Source: UniProtKB

negative regulation of prostatic bud formation

Inferred from electronic annotation. Source: Ensembl

negative regulation of striated muscle tissue development

Inferred from direct assay PubMed 14749725. Source: MGI

negative regulation of thymocyte apoptotic process

Inferred from mutant phenotype PubMed 12421925. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 9187146. Source: MGI

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 10706139PubMed 12631064PubMed 17244894. Source: UniProtKB

neural tube closure

Inferred from electronic annotation. Source: Ensembl

neuron fate commitment

Inferred from electronic annotation. Source: Ensembl

odontogenesis

Inferred from genetic interaction PubMed 11023873. Source: UniProtKB

odontogenesis of dentin-containing tooth

Inferred from electronic annotation. Source: Ensembl

osteoblast differentiation

Inferred from direct assay PubMed 17720811. Source: BHF-UCL

pituitary gland development

Inferred from electronic annotation. Source: Ensembl

positive chemotaxis

Inferred from direct assay PubMed 12631064. Source: GOC

positive regulation of BMP signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of DNA-dependent DNA replication

Inferred from direct assay PubMed 15516325. Source: BHF-UCL

positive regulation of ERK1 and ERK2 cascade

Inferred from electronic annotation. Source: Ensembl

positive regulation of SMAD protein import into nucleus

Inferred from direct assay PubMed 9389648. Source: BHF-UCL

positive regulation of apoptotic process

Inferred from direct assay PubMed 10706139. Source: UniProtKB

positive regulation of bone mineralization

Inferred from direct assay PubMed 14749725. Source: UniProtKB

positive regulation of branching involved in lung morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of cardiac muscle fiber development

Inferred from mutant phenotype PubMed 20702560. Source: BHF-UCL

positive regulation of cartilage development

Inferred from direct assay Ref.1. Source: MGI

positive regulation of cell death

Inferred from direct assay PubMed 8674409. Source: MGI

positive regulation of collagen biosynthetic process

Inferred from direct assay PubMed 17720811. Source: BHF-UCL

positive regulation of endothelial cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of endothelial cell migration

Inferred from direct assay PubMed 17992660. Source: UniProtKB

positive regulation of endothelial cell proliferation

Inferred from direct assay PubMed 17992660. Source: UniProtKB

positive regulation of epidermal cell differentiation

Inferred from direct assay PubMed 18823971. Source: UniProt

positive regulation of epithelial cell proliferation

Inferred from direct assay PubMed 11865031. Source: BHF-UCL

positive regulation of kidney development

Inferred from direct assay PubMed 10021330. Source: UniProtKB

positive regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of ossification

Inferred from direct assay PubMed 14749725. Source: MGI

positive regulation of osteoblast differentiation

Inferred from direct assay PubMed 18436533. Source: BHF-UCL

positive regulation of pathway-restricted SMAD protein phosphorylation

Inferred from direct assay PubMed 16816361PubMed 17244894. Source: UniProtKB

positive regulation of protein binding

Inferred from direct assay PubMed 23610558. Source: MGI

positive regulation of protein phosphorylation

Inferred from direct assay PubMed 14749725. Source: MGI

positive regulation of smooth muscle cell proliferation

Inferred from direct assay PubMed 10706139PubMed 17600318. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 15516325. Source: BHF-UCL

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 10021330PubMed 17600318PubMed 17992660. Source: UniProtKB

post-embryonic development

Inferred from direct assay PubMed 8674409. Source: MGI

protein localization to nucleus

Inferred from direct assay PubMed 17244894. Source: UniProtKB

pulmonary artery endothelial tube morphogenesis

Inferred from direct assay PubMed 17992660. Source: UniProtKB

regulation of branching involved in prostate gland morphogenesis

Inferred from electronic annotation. Source: Ensembl

regulation of cell fate commitment

Inferred from direct assay PubMed 18823971. Source: UniProt

regulation of odontogenesis of dentin-containing tooth

Inferred from electronic annotation. Source: Ensembl

regulation of pathway-restricted SMAD protein phosphorylation

Inferred from direct assay PubMed 18787191. Source: BHF-UCL

regulation of smooth muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

renal system development

Inferred from expression pattern PubMed 17850284. Source: UniProtKB

renal system process

Inferred from electronic annotation. Source: Ensembl

secondary heart field specification

Inferred from mutant phenotype PubMed 20702560. Source: BHF-UCL

smooth muscle tissue development

Inferred from sequence or structural similarity. Source: UniProtKB

smoothened signaling pathway

Inferred from expression pattern PubMed 17850284. Source: UniProtKB

specification of organ position

Inferred from electronic annotation. Source: Ensembl

specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway

Inferred from direct assay PubMed 10706139PubMed 17118062. Source: UniProtKB

steroid hormone mediated signaling pathway

Inferred from mutant phenotype PubMed 17244894. Source: UniProtKB

telencephalon development

Inferred from direct assay PubMed 9187146. Source: MGI

telencephalon regionalization

Inferred from electronic annotation. Source: Ensembl

tendon cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

trachea development

Inferred from direct assay PubMed 8674409. Source: MGI

trachea formation

Inferred from electronic annotation. Source: Ensembl

type B pancreatic cell development

Inferred from direct assay PubMed 11865031. Source: BHF-UCL

ureter epithelial cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

ureter smooth muscle cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

ureteric bud development

Inferred from direct assay PubMed 12141440. Source: MGI

   Cellular_componentextracellular region

Inferred from sequence or structural similarity. Source: UniProtKB

extracellular space

Inferred from sequence or structural similarity. Source: UniProtKB

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionBMP receptor binding

Inferred from direct assay PubMed 7811286. Source: MGI

chemoattractant activity

Inferred from direct assay PubMed 12631064. Source: UniProtKB

cytokine activity

Inferred from direct assay PubMed 14749725. Source: MGI

heparin binding

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction PubMed 20505824. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BMPR1AP368942EBI-1998134,EBI-1029237

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Propeptide20 – 292273
PRO_0000033856
Chain293 – 408116Bone morphogenetic protein 4
PRO_0000033857

Amino acid modifications

Glycosylation1431N-linked (GlcNAc...) Potential
Glycosylation2081N-linked (GlcNAc...) Potential
Glycosylation3501N-linked (GlcNAc...) Potential
Glycosylation3651N-linked (GlcNAc...) Potential
Disulfide bond308 ↔ 373 By similarity
Disulfide bond337 ↔ 405 By similarity
Disulfide bond341 ↔ 407 By similarity
Disulfide bond372Interchain By similarity

Natural variations

Natural variant911S → C in OFC11; also found in renal hypodysplasia patients. Ref.6 Ref.8 Ref.9
VAR_043531
Natural variant931E → G in MCOPS6. Ref.7
VAR_043532
Natural variant1021T → A. Ref.9
Corresponds to variant rs202159001 [ dbSNP | Ensembl ].
VAR_058314
Natural variant1161T → S in a renal hypodysplasia patient. Ref.8
VAR_043533
Natural variant1501N → K in a renal hypodysplasia patient. Ref.8
VAR_043534
Natural variant1521V → A. Ref.2 Ref.3 Ref.6 Ref.9
Corresponds to variant rs17563 [ dbSNP | Ensembl ].
VAR_016174
Natural variant1621R → Q in OFC11. Ref.9
VAR_058315
Natural variant1681G → A. Ref.9
VAR_058316
Natural variant2251T → A. Ref.6
VAR_043535
Natural variant2261R → W. Ref.6
VAR_043536
Natural variant2871R → H in OFC11. Ref.9
Corresponds to variant rs121912768 [ dbSNP | Ensembl ].
VAR_058317
Natural variant3461A → V in OFC11. Ref.9
VAR_058318
Natural variant3671S → T. Ref.6
VAR_043537

Sequences

Sequence LengthMass (Da)Tools
P12644 [UniParc].

Last modified October 1, 1989. Version 1.
Checksum: 79B01179DBB98204

FASTA40846,555
        10         20         30         40         50         60 
MIPGNRMLMV VLLCQVLLGG ASHASLIPET GKKKVAEIQG HAGGRRSGQS HELLRDFEAT 

        70         80         90        100        110        120 
LLQMFGLRRR PQPSKSAVIP DYMRDLYRLQ SGEEEEEQIH STGLEYPERP ASRANTVRSF 

       130        140        150        160        170        180 
HHEEHLENIP GTSENSAFRF LFNLSSIPEN EVISSAELRL FREQVDQGPD WERGFHRINI 

       190        200        210        220        230        240 
YEVMKPPAEV VPGHLITRLL DTRLVHHNVT RWETFDVSPA VLRWTREKQP NYGLAIEVTH 

       250        260        270        280        290        300 
LHQTRTHQGQ HVRISRSLPQ GSGNWAQLRP LLVTFGHDGR GHALTRRRRA KRSPKHHSQR 

       310        320        330        340        350        360 
ARKKNKNCRR HSLYVDFSDV GWNDWIVAPP GYQAFYCHGD CPFPLADHLN STNHAIVQTL 

       370        380        390        400 
VNSVNSSIPK ACCVPTELSA ISMLYLDEYD KVVLKNYQEM VVEGCGCR 

« Hide

References

« Hide 'large scale' references
[1]"Novel regulators of bone formation: molecular clones and activities."
Wozney J.M., Rosen V., Celeste A.J., Mitsock L.M., Whitters M.J., Kriz R.W., Hewick R.M., Wang E.A.
Science 242:1528-1534(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation."
Shore E.M., Xu M., Shah P.B., Janoff H.B., Hahn G.V., Deardorff M.A., Sovinsky L., Spinner N.B., Zasloff M.A., Wozney J.M., Kaplan F.S.
Calcif. Tissue Int. 63:221-229(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-152.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-152.
Tissue: Duodenum.
[4]"Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a human placental cDNA library."
Oida S., Iimura T., Maruoka Y., Takeda K., Sasaki S.
DNA Seq. 5:273-275(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-408.
Tissue: Placenta.
[5]"USAG-1: a bone morphogenetic protein antagonist abundantly expressed in the kidney."
Yanagita M., Oka M., Watabe T., Iguchi H., Niida A., Takahashi S., Akiyama T., Miyazono K., Yanagisawa M., Sakurai T.
Biochem. Biophys. Res. Commun. 316:490-500(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SOSTDC1.
[6]"Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs)."
Felder B., Stegmann K., Schultealbert A., Geller F., Strehl E., Ermert A., Koch M.C.
Eur. J. Hum. Genet. 10:753-756(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CYS-91; ALA-152; ALA-225; TRP-226 AND THR-367.
[7]"Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways."
Bakrania P., Efthymiou M., Klein J.C., Salt A., Bunyan D.J., Wyatt A., Ponting C.P., Martin A., Williams S., Lindley V., Gilmore J., Restori M., Robson A.G., Neveu M.M., Holder G.E., Collin J.R.O., Robinson D.O., Farndon P. expand/collapse author list , Johansen-Berg H., Gerrelli D., Ragge N.K.
Am. J. Hum. Genet. 82d:304-319(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCOPS6 GLY-93.
[8]"SIX2 and BMP4 mutations associate with anomalous kidney development."
Weber S., Taylor J.C., Winyard P., Baker K.F., Sullivan-Brown J., Schild R., Knueppel T., Zurowska A.M., Caldas-Alfonso A., Litwin M., Emre S., Ghiggeri G.M., Bakkaloglu A., Mehls O., Antignac C., Schaefer F., Burdine R.D.
J. Am. Soc. Nephrol. 19:891-903(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CYS-91; SER-116 AND LYS-150.
[9]"Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip."
Suzuki S., Marazita M.L., Cooper M.E., Miwa N., Hing A., Jugessur A., Natsume N., Shimozato K., Ohbayashi N., Suzuki Y., Niimi T., Minami K., Yamamoto M., Altannamar T.J., Erkhembaatar T., Furukawa H., Daack-Hirsch S., L'heureux J. expand/collapse author list , Brandon C.A., Weinberg S.M., Neiswanger K., Deleyiannis F.W., de Salamanca J.E., Vieira A.R., Lidral A.C., Martin J.F., Murray J.C.
Am. J. Hum. Genet. 84:406-411(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OFC11 CYS-91; GLN-162; HIS-287 AND VAL-346, VARIANTS ALA-102; ALA-152 AND ALA-168.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M22490 mRNA. Translation: AAA51835.1.
U43842 Genomic DNA. Translation: AAC72278.1.
BC020546 mRNA. Translation: AAH20546.1.
D30751 mRNA. Translation: BAA06410.1.
CCDSCCDS9715.1.
PIRBMHU4. C37278.
RefSeqNP_001193.2. NM_001202.3.
NP_570911.2. NM_130850.2.
NP_570912.2. NM_130851.2.
XP_005268072.1. XM_005268015.2.
UniGeneHs.68879.

3D structure databases

ProteinModelPortalP12644.
SMRP12644. Positions 307-408.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107120. 7 interactions.
DIPDIP-5795N.
IntActP12644. 7 interactions.
MINTMINT-1184353.
STRING9606.ENSP00000245451.

Chemistry

BindingDBP12644.
ChEMBLCHEMBL5350.

PTM databases

PhosphoSiteP12644.

Polymorphism databases

DMDM115073.

Proteomic databases

PaxDbP12644.
PRIDEP12644.

Protocols and materials databases

DNASU652.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000245451; ENSP00000245451; ENSG00000125378.
ENST00000417573; ENSP00000394165; ENSG00000125378.
ENST00000558984; ENSP00000454134; ENSG00000125378.
ENST00000559087; ENSP00000453485; ENSG00000125378.
GeneID652.
KEGGhsa:652.
UCSCuc001xal.4. human.

Organism-specific databases

CTD652.
GeneCardsGC14M054416.
GeneReviewsBMP4.
HGNCHGNC:1071. BMP4.
HPACAB006863.
MIM112262. gene.
600625. phenotype.
607932. phenotype.
neXtProtNX_P12644.
Orphanet264200. 14q22q23 microdeletion syndrome.
1991. Cleft lip with or without cleft palate.
139471. Microphthalmia with brain and digit anomalies.
PharmGKBPA25381.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG243555.
HOGENOMHOG000249478.
HOVERGENHBG004860.
InParanoidP12644.
KOK04662.
OMAGFHHEEH.
OrthoDBEOG7WHH9D.
PhylomeDBP12644.
TreeFamTF351789.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.
SignaLinkP12644.

Gene expression databases

ArrayExpressP12644.
BgeeP12644.
CleanExHS_BMP4.
GenevestigatorP12644.

Family and domain databases

Gene3D2.10.90.10. 1 hit.
InterProIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERPTHR11848. PTHR11848. 1 hit.
PfamPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
SMARTSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMSSF57501. SSF57501. 1 hit.
PROSITEPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBone_morphogenetic_protein_4.
GenomeRNAi652.
NextBio2648.
PROP12644.
SOURCESearch...

Entry information

Entry nameBMP4_HUMAN
AccessionPrimary (citable) accession number: P12644
Secondary accession number(s): Q9UM80
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1989
Last modified: July 9, 2014
This is version 168 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM