BMP4 Gene
protein-coding GIFtS : 72
GCID: GC14 M054416
bone morphogenetic protein 4 (Previous symbol: BMP2B )
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Aliasesfor BMP4 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Bone Morphogenetic Protein 4 1 2 BMP2B12 5 BMP2B1 2 3 5 MCOPS62 5 Bone Morphogenetic Protein 2B2 3 OFC112 5 BMP-2B2 3 ZYME2 BMP-42 3 DVR43
Export aliases for BMP4 gene to outside databases Previous GC identifers: GC14M051739 GC14M048212 GC14M052406 GC14M053486 GC14M034579
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Summariesfor BMP4 gene (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 andfracture 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)
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Genomic Viewsfor BMP4 gene
(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 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) 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
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Proteinsfor BMP4 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 andCHRD. 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 : Q9UM80Explore the universe of human proteins at neXtProt for BMP4: NX_P12644 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 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: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
BMP4 for ontologies About GeneDecksing BMP4 Antibody Products: Assay Products for BMP4:
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Protein
Domains / Familiesfor BMP4 gene (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 :
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
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Functionfor BMP4 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 andfracture 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 ). Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BMP4 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BMP4 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): BMP4 (NM_001202 ) Sino Biological Human cDNA Clone for BMP4 DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BMP4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BMP4
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
BMP4 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for BMP4 :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 ):
BMP4 for phenotypes About GeneDecksing
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Pathways & Interactionsfor BMP4 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 1 Apoptotic Pathways in Synovial Fibroblasts 2 PEDF Induced Signaling 3 GPCR Pathway 4 TGF-Beta Pathway 5 Rho Family GTPases
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for BMP4 5/74 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BMP4 (see all 74 )1
Cell Signaling Technology (CST) Pathway for BMP4 5 BioSystems Pathways for BMP4 3
Reactome Pathways for BMP4 4
Kegg Pathways (Kegg details for BMP4) :
BMP4 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM 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 ENSP00000245451 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 64 )Interactant Interaction Details GeneCard External ID(s) BMPR1A P36894 2 , 3 , ENSP00000224764 4 MINT-8044242 MINT-7990971 I2D:
score=4 STRING: ENSP00000224764 WFIKKN1 Q96NZ8 2 , 3 , ENSP00000324763 4 MINT-8044124 I2D:
score=1 STRING: ENSP00000324763 WFIKKN2 Q8TEU8 2 , 3 , ENSP00000311184 4 MINT-8044135 I2D:
score=1 STRING: ENSP00000311184 FSTL1 Q12841 2 , 3 , ENSP00000295633 4 MINT-7990874 I2D:
score=1 STRING: ENSP00000295633 ZFYVE9 O95405 2 , 3 , ENSP00000287727 4 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
BMP4 for ontologies About GeneDecksing
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Drugs & Compoundsfor BMP4 gene (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 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
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Transcriptsfor BMP4 gene (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 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BMP4 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BMP4 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): BMP4 (NM_001202 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BMP4 Vector BioLabs ready-to-use adenovirus/AAV for 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
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Expression for BMP4 gene
(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 image BioGPS 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 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 neoplasticprostate tissues, and prostate cancer cell lines SABiosciences Expression via Pathway-Focused PCR Arrays including BMP4 (see all 15 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BMP4Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat BMP4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BMP4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BMP4 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP4
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Orthologsfor BMP4 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 ↔ 1possible 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)
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Paralogsfor BMP4 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for BMP4 gene GDF5 2 GDF3 2 BMP5 2 GDF6 2 BMP8B 2 GDF7 2 GDF2 2 BMP2 2 BMP10 2 BMP3 2 BMP7 2 GDF10 2 GDF1 2 BMP8A 2 BMP6 2 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
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Genomic Variantsfor BMP4 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 14 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
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 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing BMP4
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Disorders
/ Diseasesfor BMP4 gene
(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 .)
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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
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Publicationsfor BMP4 gene (in
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Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
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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)
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About This Section Patent Information for BMP4 gene: Search GeneIP for patents involving BMP4 Licensable Technologies for BMP4 gene: GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor BMP4 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
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