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This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homo... See more...
Aliases for BMP4 Gene
Aliases for BMP4 Gene
External Ids for BMP4 Gene
- HGNC: 1071
- NCBI Entrez Gene: 652
- Ensembl: ENSG00000125378
- OMIM®: 112262
- UniProtKB/Swiss-Prot: P12644
Previous HGNC Symbols for BMP4 Gene
- BMP2B
Previous GeneCards Identifiers for BMP4 Gene
- GC14M051739
- GC14M048212
- GC14M052406
- GC14M053486
- GC14M054416
- GC14M034579
Summaries for BMP4 Gene
-
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]
GeneCards Summary for BMP4 Gene
BMP4 (Bone Morphogenetic Protein 4) is a Protein Coding gene. Diseases associated with BMP4 include Microphthalmia, Syndromic 6 and Orofacial Cleft 11. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP2.
UniProtKB/Swiss-Prot Summary for BMP4 Gene
-
Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).
Additional gene information for BMP4 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP4 Gene
Genomics for BMP4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BMP4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BMP4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP4
- Top Transcription factor binding sites by QIAGEN in the BMP4 gene promoter:
-
- Nkx2-5
Genomic Locations for BMP4 Gene
Latest Assembly
- chr14:53,949,736-53,958,761
- (GRCh38/hg38)
- Size:
- 9,026 bases
- Orientation:
- Minus strand
Previous Assembly
- chr14:54,416,454-54,423,609
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 7,156 bases
- Orientation:
- Minus strand
Genomic View for BMP4 Gene
Genes around BMP4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q22.2 by HGNC
- 14q22.2 by Entrez Gene
- 14q22.2 by Ensembl
BMP4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BMP4 Gene
Proteins for BMP4 Gene
-
Protein details for BMP4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12644-BMP4_HUMAN
- Recommended name:
- Bone morphogenetic protein 4
- Protein Accession:
- P12644
- Q9UM80
Protein attributes for BMP4 Gene
- Size:
- 408 amino acids
- Molecular mass:
- 46555 Da
- Quaternary 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. Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631).
Protein Expression for BMP4 Gene
Post-translational modifications for BMP4 Gene
Other Protein References for BMP4 Gene
Antibodies for research
- LifeSpan BioSciences BMP4 Antibody (LS-B2842) and BMP4 Antibody (LS-B3101)
- NSJ Bioreagents BMP4 Antibody
- Novus Biologicals Antibodies for BMP4
-
Abcam antibodies for BMP4
- Invitrogen Antibodies for BMP4 (AFLGC-BMP4)
- antibodies-online: Show 70 available BMP4 Antibodies ranked by validation data
- Compare Top BMP4 Antibodies
-
Recommended
- 156 WB Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 57 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 62 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for BMP4
- Sino Biological Antibodies for BMP4
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for BMP4
- Origene Custom Protein Services for BMP4
- Sino Biological Recombinant Proteins for BMP4
- Sino Biological Cell Lysates for BMP4
- ProSpec Recombinant Proteins for BMP4
-
Abcam proteins for BMP4
Assay products for research
- RayBiotech Human BMP-4 ELISA (For Lysates) and Human BMP-4 ELISA
- Novus Biologicals ELISA Kits for BMP4
- antibodies-online: Show 137 available BMP4 Elisa Kits ranked by validation data
- Compare Top BMP4 Elisa Kits
-
Quality Products:
- ABIN6720526
- ABIN624950
- ABIN1113783
- ABIN4947400
- ABIN624951
- ABIN411263
- ABIN832378
- ABIN1028251
- ABIN491737
- ABIN3032896
- ABIN1113785
- ABIN3044692
- ABIN365280
- ABIN1568654
- ABIN5519972
- ABIN5669706
- ABIN1081260
- ABIN627591
- ABIN5591705
- ABIN1113784
- ABIN1081262
- ABIN365297
- ABIN1568656
- ABIN5519975
- ABIN5670366
- ABIN626761
- ABIN5652280
- ABIN4967561
- ABIN414154
- ABIN1568652
- ABIN5519970
- ABIN826104
- ABIN1081259
- ABIN1559825
- ABIN1051447
- ABIN5652269
- ABIN5652268
- ABIN2542129
No data available for DME Specific Peptides for BMP4 Gene
Domains & Families for BMP4 Gene
Gene Families for BMP4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for BMP4 Gene
- InterPro:
- Blocks:
-
- Transforming growth factor beta (TGFb), N-terminal
- Transforming growth factor beta (TGFb)
Suggested Antigen Peptide Sequences for BMP4 Gene
- GenScript: Design optimal peptide antigens:
-
- Bone morphogenetic protein 2B (BMP4_HUMAN)
- Full-length cDNA clone CS0DI018YL16 of Placenta of Homo sapiens (human) (Q53XC5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P12644- Family:
-
- Belongs to the TGF-beta family.
Function for BMP4 Gene
Molecular function for BMP4 Gene
- UniProtKB/Swiss-Prot Function:
- Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).
- GENATLAS Biochemistry:
- 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
LifeMap Function Summary for BMP4 Gene
During embryonic development, BMP4 as signaling molecule is secreted from the following cells
- Head Mesenchyme
- Lung
- Bone
- Epiblast
- Trophoblast
- Hair
- Inner Cell Mass
- Ectoderm
- Lateral Plate Mesoderm
- Kidney
- Surface Ectoderm
- Primitive Streak
- Neural Tube
- Heart
- Tendon & Ligament
It affects the following cells:
- Neural Crest
-
Bone
- Chondrocytes (Vertebrae)
- Chondrocytes (Stylopod Epiphyseal End)
- Chondrocytes (Rib)
- Chondrocytes (Autopod Epiphyseal End)
- Chondrocytes (Zeugopod Epiphyseal End)
- Endochondral Preosteoblasts (Caudal Facial Endochondral Bones)
- Endochondral Preosteoblasts (Rostral Endochondral Facial Bones)
- Endochondral Preosteoblasts (Endochondral Facial Bones)
- Intramembranous Preosteoblasts (Membranous Facial Bones)
- Intramembranous Preosteoblasts (Rostral Skull Membranous Bones)
- Prechondrocytic Mesenchymal Cells (Spinous Process Of Vertebrae)
- Prechondrocytic Mesenchymal Cells (Dorsal Neural Arch)
- Lateral Plate Mesoderm
- Head Mesenchyme
- Tooth
- Lung
- Neural Tube
- Hypoblast
- Trophoblast
- Primitive Streak
- Hair
- Ectoderm
- Epiblast
- Eye
- Limb
- Somite
- Spinal Cord
- Brain
- Surface Ectoderm
- Lower Urinary Tract
- Kidney
BMP4 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
- Placenta
- Pancreas
- Mesoderm
- Primitive Streak
- Endoderm
- Blood
- Heart
- Epithelial Cells
- Trophoblast
- Intermediate Mesoderm
- Brain
- Liver
- Lung
- Kidney
- Bone
- Adipose
-
and also in
- Anterior foregut endoderm
- Beating cells
- BMP4/EGF-induced cells
- BMP4-induced embryoid bodies
- BMP-induced cells
- Bone morphogenetic protein 4/ascorbic acid-induced cells
- Bone morphogenic protein-induced cells
- Cartilage-like cells
- Definitive endoderm-like cells
- Embryoid bodies
- Embryoid Bodies
- Endoderm progenitor-like cells
- Hepato-specified cells
- Mesoderm precursors
- Mesoderm-like cells
- Nkx2-1 induced endoderm
- Posterior intermediate mesoderm
- Posterior nascent mesoderm
- RA/BMP4-induced cells
- Spheres
- Thymic epithelial progenitor cells
- Vascular endothelial growth factor-induced cells
- Vascular progenitor cells
- VEGF-induced cells
- Ventral pharyngeal endoderm
Phenotypes From GWAS Catalog for BMP4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005125 | cytokine activity | IDA | 14749725 |
| GO:0005515 | protein binding | IPI | 8413626 |
| GO:0008083 | growth factor activity | IEA | -- |
| GO:0008201 | heparin binding | IEA | -- |
| GO:0039706 | co-receptor binding | IPI | 16604073 |
Phenotypes for BMP4 Gene
- MGI mutant phenotypes for BMP4:
-
inferred from 15 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for BMP4:
-
- no effect
- Decreased viability
- Decreased viability after Maraba virus infection
- Increased transferrin (TF) endocytosis
- Decreased vaccinia virus (VACV) infection
- Increased circadian period length
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased cell number in G2M, increased nuclei size in G2M
- Strongly decreased NFAT1-GFP nuclear translocation
Animal Models for BMP4 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BMP4 - Starting at $85 >
- * BMP4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BMP4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMP4
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMP4
miRNA for BMP4 Gene
- miRTarBase miRNAs that target BMP4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BMP4
- Browse OriGene Inhibitory RNA Products For BMP4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP4
Clone products for research
- Applied Biological Materials (abm): Clones for BMP4 - Starting at $45 >
- * BMP4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225467
- MR225467
- MR225467L3
- MR225467L4
- RC204473
- RC204473L1
- RC204473L2
- RC204473L3
- RC204473L4
- RC219979
- RC219979L1
- RC219979L2
- RC219979L3
- RC219979L4
- RC220034
- RC220034L1
- RC220034L2
- RC220034L3
- RC220034L4
- RG204473
- RG219979
- RG220034
- RR212609
- RR212609L3
- RR212609L4
- MR225467L3V
- MR225467L4V
- RC204473L1V
- RC204473L2V
- RC204473L3V
- RC204473L4V
- RC219979L1V
- RC219979L2V
- RC219979L3V
- RC219979L4V
- RC220034L1V
- RC220034L2V
- RC220034L3V
- RC220034L4V
- RR212609L3V
- RR212609L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BMP4
- Addgene plasmids for BMP4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMP4
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BMP4 Gene
Localization for BMP4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BMP4 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| cytoskeleton | 3 |
| nucleus | 3 |
| mitochondrion | 2 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IBA,ISS | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP4 Gene
Pathways & Interactions for BMP4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
| 2 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
|
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
|
| 3 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
| 4 | TGF-Beta Pathway |
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
|
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.40
|
| 5 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
Pathways by source for BMP4 Gene
10 BioSystems pathways for BMP4 Gene
3 Reactome pathways for BMP4 Gene
3 R&D Systems pathways for BMP4 Gene
74 Qiagen pathways for BMP4 Gene
- 14-3-3 Induced Intracellular Signaling
- Actin-Based Motility by Rho Family GTPases
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
1 Cell Signaling Technology pathway for BMP4 Gene
Interacting Proteins for BMP4 Gene
Selected Interacting proteins:
P12644-BMP4_HUMAN
ENSP00000245451
for BMP4 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BMP4
SIGNOR curated interactions for BMP4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA,ISS | -- |
| GO:0000186 | activation of MAPKK activity | IDA | 17600318 |
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0001503 | ossification | IEA | -- |
| GO:0001525 | angiogenesis | IEA | -- |
Drugs & Compounds for BMP4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Nutra | Target | 6959 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug products for research
Transcripts for BMP4 Gene
mRNA/cDNA for BMP4 Gene
- 9 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000245451 1931 nts (view in UCSC)
- ENST00000417573 1784 nts (view in UCSC)
- ENST00000558489 605 nts (view in UCSC)
- ENST00000558961 495 nts (view in UCSC)
- ENST00000558984 1705 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BMP4 - Starting at $85 >
- * BMP4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BMP4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMP4
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMP4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BMP4
- Browse OriGene Inhibitory RNA Products For BMP4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP4
Clone products for research
- Applied Biological Materials (abm): Clones for BMP4 - Starting at $45 >
- * BMP4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225467
- MR225467
- MR225467L3
- MR225467L4
- RC204473
- RC204473L1
- RC204473L2
- RC204473L3
- RC204473L4
- RC219979
- RC219979L1
- RC219979L2
- RC219979L3
- RC219979L4
- RC220034
- RC220034L1
- RC220034L2
- RC220034L3
- RC220034L4
- RG204473
- RG219979
- RG220034
- RR212609
- RR212609L3
- RR212609L4
- MR225467L3V
- MR225467L4V
- RC204473L1V
- RC204473L2V
- RC204473L3V
- RC204473L4V
- RC219979L1V
- RC219979L2V
- RC219979L3V
- RC219979L4V
- RC220034L1V
- RC220034L2V
- RC220034L3V
- RC220034L4V
- RR212609L3V
- RR212609L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BMP4
- Addgene plasmids for BMP4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMP4
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | · | 5f |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||
| SP7: | - |
Relevant External Links for BMP4 Gene
- GeneLoc Exon Structure for
- BMP4
Expression for BMP4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
This gene is overexpressed in Tlymphocyte (40.5) and Heart (28.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BMP4 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMP4
SOURCE GeneReport for Unigene cluster for BMP4 Gene:
Hs.68879mRNA Expression by UniProt/SwissProt for BMP4 Gene:
P12644-BMP4_HUMAN
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.
Evidence on tissue expression from TISSUES for BMP4 Gene
- Intestine(4.8)
- Muscle(3.1)
- Heart(3)
- Skin(2.9)
- Lung(2.8)
- Bone(2.7)
- Kidney(2.7)
- Nervous system(2.6)
- Eye(2.6)
- Pancreas(2.6)
- Stomach(2.5)
- Blood(2.4)
- Bone marrow(2.4)
- Liver(2.4)
- Thyroid gland(2.2)
- Spleen(2.1)
- Adrenal gland(2.1)
- Lymph node(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- lip
- mandible
- maxilla
- middle ear
- mouth
- nose
- outer ear
- pharynx
- pituitary gland
- skull
Pelvis:
- testicle
- urinary bladder
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- peripheral nervous system
- skin
- spinal cord
Primer products for research
-
OriGene qPCR primer pairs for BMP4
-
OriGene qPCR primer pairs and template standards for BMP4
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for BMP4 Gene
Orthologs for BMP4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BMP4 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BMP4 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BMP4 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bmp4 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bmp4 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | BMP4 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BMP4 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BMP4 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmp4 29 |
|
||
| Str.490 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | bmp4 29 30 |
|
OneToOne | |
| -- 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | dpp 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | dbl-1 31 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for BMP4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for BMP4 Gene
- ENSEMBL:
- Gene Tree for BMP4 (if available)
- TreeFam:
- Gene Tree for BMP4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BMP4: view image
- Alliance of Genome Resources:
- Additional Orthologs for BMP4
Paralogs for BMP4 Gene
Paralogs for BMP4 Gene
(12) SIMAP similar genes for BMP4 Gene using alignment to 8 proteins:
- BMP4_HUMAN
- H0YLW3_HUMAN
- H0YM53_HUMAN
- H0YMP9_HUMAN
- L8E8S7_HUMAN
- Q53XC5_HUMAN
- U3MVU6_HUMAN
- V9GYF1_HUMAN
Variants for BMP4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP4 Gene
| SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1006001 | Uncertain Significance: Orofacial cleft 11; Microphthalmia with brain and digit anomalies | 53,950,324(-) |
G/A NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) |
MISSENSE | |
| 1022631 | Uncertain Significance: Orofacial cleft 11; Microphthalmia with brain and digit anomalies | 53,950,402(-) |
C/T NM_001202.6(BMP4):c.857G>A (p.Arg286Gln) |
MISSENSE | |
| 881587 | Conflicting Interpretations: Orofacial cleft 11; Microphthalmia with brain and digit anomalies | 53,950,001(-) |
A/T NM_001202.6(BMP4):c.*31T>A |
THREE_PRIME_UTR | |
| 881588 | Benign/Likely Benign: Orofacial cleft 11; Microphthalmia with brain and digit anomalies | 53,950,004(-) |
T/A NM_001202.6(BMP4):c.*28A>T |
THREE_PRIME_UTR | |
| 881629 | Conflicting Interpretations: Orofacial cleft 11; Microphthalmia with brain and digit anomalies | 53,952,099(-) |
C/G NM_001202.6(BMP4):c.124G>C (p.Ala42Pro) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
56.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.75;
91.58% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BMP4 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BMP4 Gene
Disorders for BMP4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microphthalmia, syndromic 6 |
|
|
| orofacial cleft 11 |
|
|
| renal hypodysplasia/aplasia 3 |
|
|
| colobomatous microphthalmia |
|
|
| fibrodysplasia ossificans progressiva |
|
|
Search BMP4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BMP4_HUMAN- 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. {ECO:0000269 PubMed:18252212}. Note=The disease is caused by variants affecting the gene represented in this entry.
- 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. {ECO:0000269 PubMed:19249007}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for BMP4
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for BMP4 Gene
Publications for BMP4 Gene
- Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. (PMID: 19249007) Suzuki S ā¦ Murray JC (American journal of human genetics 2009) 3 4 40 72
- Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. (PMID: 18252212) Bakrania P ā¦ Ragge NK (American journal of human genetics 2008) 3 4 22 72
- Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a human placental cDNA library. (PMID: 7579580) Oida S ā¦ Sasaki S (DNA sequence : the journal of DNA sequencing and mapping 1995) 2 3 4 22
- Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PMID: 20057906) Zhang X ā¦ Zhang Q (Molecular vision 2009) 3 22 40
- A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population. (PMID: 19557432) Capasso M ā¦ Iolascon A (Journal of cancer research and clinical oncology 2009) 3 22 40
ExternalLinks
Products for BMP4 Gene
- View all 24 R&D Systems BMP4 (BMP-4) Products
- View all 6 R&D Systems BMP4 (BMP-4) Proteins and Enzymes
- View all 12 R&D Systems BMP4 (BMP-4) Primary Antibodies
- View all 3 R&D Systems BMP4 (BMP-4) ELISAs
- View all R&D Systems BMP4 (BMP-4) Luminex Assays
- View all R&D Systems BMP4 (BMP-4) Proteome Profiler Antibody Arrays
- View all R&D Systems BMP4 (BMP-4) cDNA Clones
- Learn more about R&D Systems custom BMP4 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for BMP4
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for BMP4
- Origene Custom Protein Services for BMP4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BMP4
- Browse OriGene Inhibitory RNA Products For BMP4
- OriGene qPCR primer pairs for BMP4
- OriGene qPCR primer pairs and template standards for BMP4
- OriGene CRISPR knockouts for BMP4
- MG225467
- MR225467
- MR225467L3
- MR225467L4
- RC204473
- RC204473L1
- RC204473L2
- RC204473L3
- RC204473L4
- RC219979
- RC219979L1
- RC219979L2
- RC219979L3
- RC219979L4
- RC220034
- RC220034L1
- RC220034L2
- RC220034L3
- RC220034L4
- RG204473
- RG219979
- RG220034
- RR212609
- RR212609L3
- RR212609L4
- MR225467L3V
- MR225467L4V
- RC204473L1V
- RC204473L2V
- RC204473L3V
- RC204473L4V
- RC219979L1V
- RC219979L2V
- RC219979L3V
- RC219979L4V
- RC220034L1V
- RC220034L2V
- RC220034L3V
- RC220034L4V
- RR212609L3V
- RR212609L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BMP4
- Sino Biological Human cDNA Clone for BMP4
- Sino Biological Recombinant Proteins for BMP4
- Sino Biological Cell Lysates for BMP4
- Sino Biological Antibodies for BMP4
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for BMP4
- Novus Biologicals proteins and lysates for BMP4
- Novus Biologicals ELISA Kits for BMP4
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for BMP4
- Abcam proteins for BMP4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for BMP4
- ESI BIO PureStem Z11, Meso Progenitor for BMP4
- Invitrogen Antibodies for BMP4 (AFLGC-BMP4)
- VectorBuilder Custom and pre-made DNA vectors for BMP4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for BMP4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for BMP4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for BMP4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BMP4
- Addgene plasmids for BMP4
- antibodies-online: Show 70 available BMP4 Antibodies ranked by validation data
- Compare Top BMP4 Antibodies
- Recommended
- 156 WB Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 57 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 62 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Show 137 available BMP4 Elisa Kits ranked by validation data
- Compare Top BMP4 Elisa Kits
- Quality Products:
- ABIN6720526
- ABIN624950
- ABIN1113783
- ABIN4947400
- ABIN624951
- ABIN411263
- ABIN832378
- ABIN1028251
- ABIN491737
- ABIN3032896
- ABIN1113785
- ABIN3044692
- ABIN365280
- ABIN1568654
- ABIN5519972
- ABIN5669706
- ABIN1081260
- ABIN627591
- ABIN5591705
- ABIN1113784
- ABIN1081262
- ABIN365297
- ABIN1568656
- ABIN5519975
- ABIN5670366
- ABIN626761
- ABIN5652280
- ABIN4967561
- ABIN414154
- ABIN1568652
- ABIN5519970
- ABIN826104
- ABIN1081259
- ABIN1559825
- ABIN1051447
- ABIN5652269
- ABIN5652268
- ABIN2542129
- antibodies-online: Show 82 available BMP4 Proteins ranked by validation data
- Compare Top BMP4 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for BMP4
- Search Santa Cruz Biotechnology (SCBT) for BMP4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BMP4
- Horizon Cell Lines for BMP4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMP4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMP4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BMP4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP4
Sources for BMP4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC