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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 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]
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 Degradation of the extracellular matrix and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP2.
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 |
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 | -- |
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
.41
|
5 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | Target | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BMP4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BMP4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BMP4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bmp4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bmp4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BMP4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BMP4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BMP4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmp4 30 |
|
||
Str.490 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | bmp4 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | dpp 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | dbl-1 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638315 | Uncertain Significance: BMP4-Related Syndromic Microphthalmia | 53,950,420(-) | C/G | MISSENSE_VARIANT | |
694747 | Uncertain Significance: Aplasia/hypoplasia involving bones of the lower limbs; Absence of the sacrum | 53,952,219(-) | T/A | MISSENSE_VARIANT,INTRON_VARIANT | |
707581 | Benign: Orofacial cleft 11; Microphthalmia with brain and digit anomalies | 53,951,995(-) | A/T | MISSENSE_VARIANT | |
721286 | Likely Benign: Orofacial cleft 11; Microphthalmia with brain and digit anomalies | 53,952,130(-) | C/G | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
724221 | Likely Benign: not provided | 53,950,677(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
microphthalmia, syndromic 6 |
|
|
orofacial cleft 11 |
|
|
renal hypodysplasia/aplasia 3 |
|
|
colobomatous microphthalmia |
|
|
fibrodysplasia ossificans progressiva |
|