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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. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]
BMP8B (Bone Morphogenetic Protein 8b) is a Protein Coding gene. Diseases associated with BMP8B include Vestibulocochlear Nerve Disease and Vestibular Neuronitis. Among its related pathways are ERK Signaling and Hippo signaling pathway. 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 BMP8A.
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 | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | 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
|
2 | 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
|
3 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
4 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
|
Molecular Mechanisms of Cancer
.51
|
5 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
|
PAK Pathway
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | TAS | 1460021 |
GO:0001503 | ossification | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | IBA | 21873635 |
GO:0030154 | cell differentiation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BMP8B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
LOC100855618 30 |
|
||||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | BMP8A 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Bmp8a 31 |
|
ManyToMany | |
Bmp8b 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | BMP8B 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmp8b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bmp8a 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138246844 | Likely Benign: not provided. Benign: not provided | 39,763,173(-) |
C/GC/T NM_001720.5(BMP8B):c.978G>C (p.Ser326=) |
SYNONYMOUS_VARIANT,INTRON | |
rs138571171 | Benign: not provided | 39,763,082(-) |
T/C NM_001720.5(BMP8B):c.1059+10A>G |
INTRON | |
rs179472 | Benign: not provided | 39,764,664(-) |
C/G NM_001720.5(BMP8B):c.827G>C (p.Ser276Thr) |
MISSENSE | |
rs192079535 | Benign: not provided | 39,762,513(-) |
T/C NM_001720.5(BMP8B):c.1059+579A>G |
INTRON | |
rs370056406 | Likely Benign: not provided | 39,775,019(-) |
C/T NM_001720.5(BMP8B):c.354G>A (p.Leu118=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv152n100 | CNV | gain | 25217958 |
dgv153n100 | CNV | gain | 25217958 |
dgv15n27 | CNV | gain | 19166990 |
esv2758933 | CNV | loss | 17122850 |
esv3561048 | CNV | deletion | 23714750 |
nsv1075454 | CNV | deletion | 25765185 |
nsv1116447 | OTHER | inversion | 24896259 |
nsv1136078 | CNV | deletion | 24896259 |
nsv546063 | CNV | gain | 21841781 |
nsv7177 | OTHER | inversion | 18451855 |
nsv945894 | CNV | duplication | 23825009 |
nsv945895 | CNV | duplication | 23825009 |
nsv950654 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vestibulocochlear nerve disease |
|
|
vestibular neuronitis |
|
|
photoallergic dermatitis |
|
|
achondroplasia |
|
|
tympanic membrane disease |
|
|