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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, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
BMP5 (Bone Morphogenetic Protein 5) is a Protein Coding gene. Diseases associated with BMP5 include Osteoarthritis and Keshan Disease. Among its related pathways are NF-KappaB Family Pathway and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP7.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH06J055867 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | +3.6 | 3577 | 8.3 | SP1 BACH1 STAT3 RELA POLR2A TCF12 IKZF2 TRIM22 ZNF561 EED | BMP5 piR-46002-485 HMGCLL1 | |
GH06J055898 | Enhancer | 0.5 | Ensembl | 12.1 | -23.0 | -23011 | 0.4 | SP1 CEBPB JUN JUND EP300 FOSL2 TCF7L2 | BMP5 piR-54764-556 COL21A1 | |
GH06J055913 | Enhancer | 0.5 | Ensembl | 11.3 | -38.1 | -38111 | 1 | BHLHE40 GATA3 SIN3A FEZF1 PRDM6 CTBP1 BCL6B PKNOX1 | BMP5 COL21A1 piR-36393-448 piR-43107-262 | |
GH06J055755 | Enhancer | 0.9 | Ensembl ENCODE | 4.8 | +117.9 | 117899 | 4.3 | CEBPG CREB1 TARDBP FOXA1 CEBPA ATF7 CEBPB BRCA1 CTBP1 FOS | BMP5 piR-46002-485 HMGCLL1 | |
GH06J055916 | Enhancer | 0.3 | Ensembl | 11.3 | -40.8 | -40811 | 0.8 | JUN JUND | BMP5 piR-36393-448 piR-43107-262 COL21A1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005125 | cytokine activity | IBA | 21873635 |
GO:0008083 | growth factor activity | IEA | -- |
GO:0070700 | BMP receptor binding | IDA | 7811286 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IBA,ISS | -- |
GO:0031982 | vesicle | ISS | -- |
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:0001501 | skeletal system development | IEA,NAS | 2263636 |
GO:0001503 | ossification | IEA | -- |
GO:0003272 | endocardial cushion formation | ISS | -- |
GO:0003323 | type B pancreatic cell development | IDA | 11865031 |
GO:0003344 | pericardium morphogenesis | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Escitalopram | Approved | Pharma | 0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BMP5 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BMP5 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BMP5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BMP5 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BMP5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bmp5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bmp5 30 |
|
||
Chicken (Gallus gallus) |
Aves | BMP5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BMP5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmp5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bmp5 30 31 |
|
OneToOne | |
zgc64230 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | gbb 32 |
|
|
|
scw 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | dbl-1 32 |
|
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708435 | Benign: not provided | 55,760,493(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
709824 | Benign: not provided | 55,874,504(-) | T/C | MISSENSE_VARIANT | |
714767 | Benign: not provided | 55,819,713(-) | A/G | MISSENSE_VARIANT | |
735236 | Benign: not provided | 55,759,124(-) | T/TACACAC | INTRON_VARIANT | |
rs35124644 | - | p.Asn121Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5966n100 | CNV | gain | 25217958 |
esv2665663 | CNV | deletion | 23128226 |
esv3571078 | CNV | loss | 25503493 |
esv3609078 | CNV | loss | 21293372 |
esv3609079 | CNV | loss | 21293372 |
nsv1032684 | CNV | loss | 25217958 |
nsv1034037 | CNV | gain | 25217958 |
nsv603164 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteoarthritis |
|
|
keshan disease |
|
|
epileptic encephalopathy, childhood-onset |
|
|
renal artery atheroma |
|
|
nephrosclerosis |
|
|