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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BMP4 Gene

protein-coding GIFtS: 72
GCID: GC14M054416

bone morphogenetic protein 4

(Previous symbol: BMP2B)

Explore 104 diseases affiliated with
BMP4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Bone Morphogenetic Protein 4¹ ²		BMP2B1² ⁵
BMP2B¹ ² ³ ⁵		MCOPS6² ⁵
Bone Morphogenetic Protein 2B² ³		OFC11² ⁵
BMP-2B² ³		ZYME²
BMP-4² ³		DVR4³

External Ids:	HGNC: 1071¹	Entrez Gene: 652²	Ensembl: ENSG00000125378⁷	OMIM: 112262⁵	UniProtKB: P12644³

Export aliases for BMP4 gene to outside databases

Previous GC identifers: GC14M051739 GC14M048212 GC14M052406 GC14M053486 GC14M034579

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BMP4:

The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming

growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone

morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral

osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of

endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone

diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5'

untranslated region of this gene has been described and three variants are described, all encoding an identical

protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BMP4_HUMAN, P12644

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)

Gene Wiki entry for BMP4 (Bone morphogenetic protein 4)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BMP4 gene promoter:
Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BMP4 promoter sequence

Search SABiosciences Chromatin IP Primers for BMP4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMP4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q22-q23 Ensembl cytogenetic band: 14q22.2 HGNC cytogenetic band: 14q22-q23

BMP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMP4 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M054416: view genomic region (about GC identifiers)

Start:	54,416,454 bp from pter	End:	54,425,479 bp from pter
Size:	9,026 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BMP4_HUMAN, P12644 (See protein sequence)

Recommended Name: Bone morphogenetic protein 4 precursor

Size: 408 amino acids; 46555 Da

Subunit: 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

Subcellular location: Secreted, extracellular space, extracellular matrix

Secondary accessions: Q9UM80

Explore the universe of human proteins at neXtProt for BMP4: NX_P12644

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P12644

BMP4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001193.2 NP_570911.2 NP_570912.2

ENSEMBL proteins:

ENSP00000453485 ENSP00000245451 ENSP00000454134 ENSP00000453365 ENSP00000453691

ENSP00000453467 ENSP00000394165

Reactome Protein details: P12644
Human Recombinant Protein Products:

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	GenScript Purified and Recombinant Proteins for BMP4
	Novus Biologicals BMP4 Proteins Novus Biologicals BMP4 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for BMP4
	Uscn Proteins for BMP4

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	ISS	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	ISS	--
GO:0005737	cytoplasm	--	--
GO:0031988	membrane-bounded vesicle	--	--

BMP4 for ontologies About GeneDecksing

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	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for BMP4
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BMP4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BMP4 for domains About GeneDecksing

4 InterPro domains/families:

IPR001111 TGF-b_N

IPR015615 TGF-beta-rel

IPR001839 TGF-b_C

IPR017948 TGFb_CS

Graphical View of Domain Structure for InterPro Entry P12644

ProtoNet protein and cluster: P12644

2 Blocks protein families:

IPB001111 Transforming growth factor beta (TGFb)

IPB001839 Transforming growth factor beta (TGFb)

UniProtKB/Swiss-Prot: BMP4_HUMAN, P12644

Similarity: Belongs to the TGF-beta family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BMP4_HUMAN, P12644

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)

Genatlas biochemistry entry for BMP4:

bone morphogenetic protein 4 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily),BMP4 expression under

MSX2 control,inducing ventralizing signals inhibited by noggin,also inducing apoptosis and chondrogenesis in the chick

limb bud,inhibited by FGF4,regulating myogenesis through dosage-dependent PAX3 expression in pre-myogenic cells

Summary:

During embryonic development, BMP4 as signaling molecule is secreted from the following cells: Branchial Arch 1 Ectoderm Cells in Branchial Arch 1, Branchial Arch 2 Ectoderm Cells in Branchial Arch 2 (see all 23).

It affects the following cells: Cardiac Neural Crest Cells in Cardiac Neural Crest, Chondrocytes in Thoracic Rib (see all 46).

BMP4 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Mesoderm precursors, Mesoderm-like cells (see all 43).

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMP4 (see all 7) OriGene shRNA RFP: BMP4 OriGene siRNA: BMP4
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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP4

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005125	cytokine activity	IDA	14749725
GO:0005515	protein binding	IPI	8752214
GO:0008083	growth factor activity	IEA	--
GO:0008201	heparin binding	IEA	--
GO:0042056	chemoattractant activity	IDA	12631064

BMP4 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for BMP4:

Increased cell number in G2M,

Increased circadian period len

Animal Models:
Mouse knock-outs for BMP4: Bmp4^tm1.1Jfm Bmp4^tm3.2Blh Bmp4^tm1Blh
15/23 MGI mutant phenotypes (inferred from 14 alleles) (MGI details for Bmp4) (see all 23):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	limbs/digits/tail	liver/biliary system	mortality/aging	muscle

BMP4 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/32 super-pathways (see all 32) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic Pathways in Synovial Fibroblasts

8/14 pathways (see all 14)
Apoptotic Pathways in Synovial Fibroblasts	1.00	ERK5 Signaling	0.61
p53 Mediated Apoptosis	0.84	eIF2 Pathway	0.60
Mitochondrial Apoptosis	0.73	Rac1 Pathway	0.58
Telomerase Components in Cell Signaling	0.72	Nuclear Receptor Activation by Vitamin-A	0.57

PEDF Induced Signaling

8/11 pathways (see all 11)
PEDF Induced Signaling	1.00	STAT3 Pathway	0.47
MIF Mediated Glucocorticoid Regulation	0.73	Endothelin-1 Signaling Pathway	0.44
MIF Regulation of Innate Immune Cells	0.71	NFAT Signaling and Lymphocyte Interactions	0.37
IL-6 Pathway	0.61	PGC1Alpha Pathway	0.33

GPCR Pathway

GPCR Pathway	1.00	Estrogen Pathway	0.55
Ras Pathway	0.62	Pancreatic Adenocarcinoma	0.55
Breast Cancer Regulation by Stathmin1	0.58	Paxillin Interactions	0.53
NFAT in Immune Response	0.58

TGF-Beta Pathway

TGF-Beta Pathway	1.00	JNK Pathway	0.50
MAPK Family Pathway	0.60	Regulation of eIF4 and p70S6K	0.43
JAK-STAT Pathway	0.57	SOCS Pathway	0.29

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for BMP4

	Selected targets of Oct-3/4
	Selected targets of ESR1

5/74 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BMP4 (see all 74)

	Telomerase Components in Cell Signaling
	Molecular Mechanisms of Cancer
	eIF2 Pathway
	Intracellular Calcium Signaling
	JNK Pathway

1 Cell Signaling Technology (CST) Pathway for BMP4

TGF-beta/Smad Signaling

5 BioSystems Pathways for BMP4

	Neural Crest Differentiation
	TGF Beta Signaling Pathway
	Heart Development
	Adipogenesis
	Glypican 3 network

3 Reactome Pathways for BMP4

	Molecules associated with elastic fibres
	Extracellular matrix organization
	Elastic fibre formation

4 Kegg Pathways (Kegg details for BMP4):

	Hedgehog signaling pathway
	TGF-beta signaling pathway
	Pathways in cancer
	Basal cell carcinoma

BMP4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BMP4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/64 Interacting proteins for BMP4 (P12644^{2, 3} ENSP00000245451⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BMPR1A	P36894²^,³, ENSP00000224764⁴	MINT-8044242 MINT-7990971 I2D: score=4 STRING: ENSP00000224764
WFIKKN1	Q96NZ8²^,³, ENSP00000324763⁴	MINT-8044124 I2D: score=1 STRING: ENSP00000324763
WFIKKN2	Q8TEU8²^,³, ENSP00000311184⁴	MINT-8044135 I2D: score=1 STRING: ENSP00000311184
FSTL1	Q12841²^,³, ENSP00000295633⁴	MINT-7990874 I2D: score=1 STRING: ENSP00000295633
ZFYVE9	O95405²^,³, ENSP00000287727⁴	MINT-62054 I2D: score=3 STRING: ENSP00000287727

About this table

Gene Ontology (GO): 5/182 biological process terms (GO ID links to tree view) (see all 182): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	9187146
GO:0000186	activation of MAPKK activity	IDA	17600318
GO:0001501	skeletal system development	--	--
GO:0001525	angiogenesis	--	--
GO:0001541	ovarian follicle development	--	--

BMP4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BMP4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BMP4
10/46 Novoseek chemical compound relationships for BMP4 gene (see all 46) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cyclopamine	56.8	1	11487541 (1)
retinoic acid	48.2	67	10578180 (5), 11478839 (4), 16195406 (3), 8788040 (2) (see all 25)
tgf beta1	42.2	11	18172096 (4), 17617449 (1), 18434375 (1), 9739114 (1) (see all 5)
pd 169316	36.8	2	11813263 (1), 14521923 (1)
vegf	29.7	55	16514669 (6), 12235106 (5), 18550259 (3), 11255225 (3) (see all 17)
heparan sulfate	29	11	18385288 (2), 17055473 (2), 17944754 (1)
threonine	28.1	5	7673243 (1), 9577408 (1), 15621726 (1), 7811286 (1) (see all 5)
matrigel	16.9	2	18535293 (1), 17526776 (1)
titanium	12.7	3	17049981 (1), 11996050 (1)
ribonucleic acid	12.6	5	12616078 (1), 12672843 (1), 9577408 (1)

Search CenterWatch for drugs/clinical trials and news about BMP4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BMP4 gene (3 alternative transcripts):

NM_001202.3 NM_130850.2 NM_130851.2

Unigene Cluster for BMP4:

Bone morphogenetic protein 4

Hs.68879 [show with all ESTs]

Unigene Representative Sequence: NM_001202

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000559087(uc001xan.4) ENST00000245451(uc001xao.4) ENST00000558984(uc001xal.4)

ENST00000559501 ENST00000558961 ENST00000559642 ENST00000558489 ENST00000417573(uc010aoh.3)

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		hsa-miR-101* hsa-miR-340 hsa-miR-507 hsa-miR-1257
		SwitchGear 3'UTR luciferase reporter plasmid: BMP4 3' UTR sequence

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BMP4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMP4

Additional cDNA sequence:

BC020546.2 BX161385.1 BX161438.1 M22490.1

12 DOTS entries:

DT.444673 DT.91744114 DT.100804406 DT.100787271 DT.91744115 DT.100696704 DT.86851128 DT.95275953

DT.95303693 DT.100787269 DT.75188866 DT.92418304

24/158 AceView cDNA sequences (see all 158):

CR615807 BQ641785 CB159290 BM548768 BE304524 BQ573792 BE512742 CR603423

BU190376 CR595138 BM791751 BG328313 BM854286 BX161438 M22490 BM698963

BM687933 BU628523 BX161385 BM557669 BM998225 CA428190 T54134 BE867398

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for BMP4 (see all 7) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	·	4e	^	5a	·	5b	·	5c	·	5d	·	5e	·	5f
SP1:									-		-				-		-
SP2:									-		-				-
SP3:											-				-
SP4:			-		-		-		-		-				-
SP5:															-		-

ECgene alternative splicing isoforms for BMP4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BMP4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTACCTGG

About this image

BMP4 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/65 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 65)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Limb Ectoderm

Apical Ectodermal Ridge Cells

Selective marker (cell-identifying gene)

Dermis, Ectoderm

Limb

Autopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Limb

Autopod Synovial Joint

Interzone Cells

Cartilage

Limb

Stylopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Limb

Stylopod Synovial Joint

Interzone Cells

Cartilage

Limb

Zeugopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Limb

Zeugopod Synovial Joint

Interzone Cells

Cartilage

Bone

Autopod Epiphyseal End

Prechondrocytes

Bone, Cartilage

Bone

Autopod Perichondrium

Endochondral Preosteoblasts

Bone

Caudal Endochondral Bones

Endochondral Osteoblasts

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Cartilage-like cells (Differentiation of s...)

Cartilage

See BMP4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BMP4

SOURCE GeneReport for Unigene cluster: Hs.68879

UniProtKB/Swiss-Prot: BMP4_HUMAN, P12644

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

SABiosciences Expression via Pathway-Focused PCR Arrays including BMP4 (see all 15):

Osteogenesis in human mouse rat

Neurogenesis in human mouse rat

Nephrotoxicity in human mouse rat

Growth Factors in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BMP4 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NU66_CHICK⁶	bone morphogenetic protein 4	83(a)	1 ↔ 1	5(61149845-61153194)
lizard (Anolis carolinensis)	Reptilia	BMP4⁶ --	--	72(a) 44(a)	1 ↔ 1 possible ortholog	GL343794.1(3908-10634) LGf(3407164-3410255)
African clawed frog (Xenopus laevis)	Amphibia	X63426.1²	--	83.76(n)		X63426.1
zebrafish (Danio rerio)	Actinopterygii	D49972.1²	--	78.27(n)		30612 D49972.1
fruit fly (Drosophila melanogaster)	Insecta	dpp³	TGFbeta receptor signaling pathway transforming more	42(a)		--

ENSEMBL Gene Tree for BMP4 (if available)
TreeFam Gene Tree for BMP4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BMP4 gene

GDF5² GDF3² BMP5² GDF6² BMP8B² GDF7² GDF2² BMP2²

BMP10² BMP3² BMP7² GDF10² GDF1² BMP8A² BMP6²

5 SIMAP similar genes for BMP4 using alignment to 6 protein entries: BMP4_HUMAN (see all proteins):

BMP2 BMP5 BMP6 BMP8A BMP8B

BMP4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912768^1,2	C,F,	pathogenic	34580317(-)	`CCGACG/ACCGGA`	6	/H /R	mis¹		2		NA EU	5131
rs73267463^1,2	C,	--	34579276(+)	`GGGTTG/CAGACC`	3	--	ds500¹		1		WA	2
rs74495140^1,2	C,	--	34579799(+)	`TTTTCC/TTTTTT`	3	--	ut3¹		1		CSA	2
rs74054236^1,2	C,	--	34579862(+)	`TGTGTG/AGGTGA`	3	--	ut3¹		2		WA	120
rs79762003^1,2	C,	--	34582280(+)	`AAGATC/GAAGTT`	3	--	int¹		2		CSA WA	120
rs10130587^1,2	C,F,A,	--	34582310(+)	`CACCCC/GCCCAC`	3	--	int¹		4		NA WA	8
rs59035991^1,2	C,	--	34582752(+)	`TGAGTT/ATGAAA`	3	--	int¹		3		WA NA	240
rs61983164^1,2		--	34583123(+)	`AAGGGG/ACAGCC`	3	--	int¹		1		NA	2
rs2761882^1,2	C,F,A,	--	34583509(+)	`CCGCGT/CCCGCC`	3	--	int¹		1		NA	120
rs74422939^1,2		--	34583736(+)	`CTTAAC/GTGGGG`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BMP4 (54416454 - 54425479 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BMP4: --
Human Gene Mutation Database (HGMD): BMP4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BMP4 for disorders           About GeneDecksing

OMIM gene information: 112262
OMIM disorders: 607932  600625
UniProtKB/Swiss-Prot: BMP4_HUMAN, P12644

Defects in BMP4 are the cause of microphthalmia syndromic type 6 (MCOPS6) [MIM:607932]; also known as

microphthalmia and pituitary anomalies or microphthalmia with brain and digit developmental anomalies. Microphthalmia

is a clinically heterogeneous 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. MCOPS6 is characterized by microphthalmia/anophthalmia associated

with facial, genital, skeletal, neurologic and endocrine anomalies

Defects in BMP4 are the cause of non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]. Non-syndromic

orofacial cleft is a common 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. OFC11 is an unusual anomaly consisting of a paramedian scar of the upper lip with an

appearance suggesting that a typical cleft lip was corrected in utero

20/104 diseases for BMP4 (see all 104): About MalaCards

fibrodysplasia ossificans progressiva ossification of posterior longitudinal ligament of spine desmoplastic small round cell tumor malignant peripheral nerve sheath tumor

microphthalmia syndromic 6 neural tube defect age related macular degeneration non-small cell lung carcinoma

lichen planus barrett's esophagus craniofacial anomalies oral lichen planus

cleft lip cleft palate soft tissue sarcoma bullous keratopathy

type 1 diabetes mellitus birth defects tooth agenesis macular degeneration

8 diseases from the University of Copenhagen DISEASES database for BMP4:

Fibrodysplasia ossificans progressiva Cleft palate Tooth agenesis Cleft lip

Cancer Polydactyly Holoprosencephaly Bone disease

10/57 Novoseek disease relationships for BMP4 gene (see all 57) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrodysplasia ossificans progressiva	84.3	40	12672843 (6), 8678932 (4), 9577410 (3), 12579020 (3) (see all 17)
ossification heterotopic	60.8	8	14711949 (2), 17345627 (2), 11521229 (1)
carcinoma embryonal	47.5	11	8903360 (2), 17941089 (1), 11478839 (1), 10578180 (1) (see all 8)
polydactyly, postaxial	36.9	3	15581864 (1), 10964473 (1)
cleft palate	33.5	5	19914800 (2), 12163415 (2), 18771417 (1)
congenital malformation	32.6	3	11722794 (2), 16414041 (1)
genetic disorder	32	6	17345627 (1), 11521229 (1), 10457277 (1)
osteosarcoma	29.3	4	7579580 (1), 11986346 (1), 12881039 (1), 9874511 (1)
pilomatricoma	27	2	15701082 (1)
cleft lip	26.1	5	19914800 (2), 18771417 (1), 19249007 (1)

Genetic Association Database (GAD): BMP4
Human Genome Epidemiology (HuGE) Navigator: BMP4 (40 documents)

Export disorders for BMP4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BMP4 gene, integrated from 9 sources (see all 789):
(articles sorted by number of sources associating them with BMP4)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a human placental cDNA library. (PubMed id 7579580)^{1, 2, 3, 9} Oida S.... Sasaki S. (1995)
Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs). (PubMed id 12404109)^{1, 2, 4} Felder B.... Koch M.C. (2002)
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. (PubMed id 18252212)^{1, 2, 9} Bakrania P.... Ragge N.K. (2008)
The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation. (PubMed id 9701626)^{1, 2, 9} Shore E.M.... Kaplan F.S. (1998)
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. (PubMed id 19249007)^{1, 2, 9} Suzuki S....Murray J.C. (2009)
SIX2 and BMP4 mutations associate with anomalous kidney development. (PubMed id 18305125)^{1, 2} Weber S.... Burdine R.D. (2008)
USAG-1: a bone morphogenetic protein antagonist abundantly expressed in the kidney. (PubMed id 15020244)^{1, 2} Yanagita M.... Sakurai T. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization. (PubMed id 7558046)^{1, 3} van den Wijngaard A....Olijve W. (1995)
Novel regulators of bone formation: molecular clones and activities. (PubMed id 3201241)^{1, 2} Wozney J.M.... Wang E.A. (1988)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 652	HGNC: 1071	AceView: BMP4	Ensembl:ENSG00000125378	euGenes: HUgn652
ECgene: BMP4	Kegg: 652	H-InvDB: BMP4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BMP4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BMP4	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_4

Intellectual Property for BMP4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for BMP4 gene:
Search GeneIP for patents involving BMP4

Licensable Technologies for BMP4 gene:

Tufts University:

Use of miRNAs to selectively modulate TGF-?/BMP signaling to treat TGF-?/BMP mediated disorders

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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bone morphogenetic protein 4

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Ossification Heterotopic
Barrett Esophagus
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LUNG TUMOR
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BMP4 Gene

bone morphogenetic protein 4

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