BMP8B Gene - Bone Morphogenetic Protein 8B
A member of the TGF-beta superfamily involved in bone development, fertility, and thermogenesis.
Gene Information Card
| Symbol | BMP8B |
|---|---|
| Full Name | Bone Morphogenetic Protein 8B |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 656 ncbi.nlm.nih.gov/gene/656 |
| Ensembl ID | ENSG00000116985 |
| UniProt ID | P34820 |
| OMIM ID | 602284 |
| HGNC ID | 1074 |
| Aliases | BMP8, OP-2, MGC131757 |
Description
BMP8B (Bone Morphogenetic Protein 8B) is a member of the bone morphogenetic protein (BMP) family, which belongs to the transforming growth factor-beta (TGF-beta) superfamily. It encodes a secreted ligand that binds to BMP receptors (type I and type II) to regulate cellular processes such as differentiation, proliferation, and apoptosis. BMP8B plays critical roles in bone formation, male fertility (spermatogenesis), brown adipose tissue thermogenesis, and energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | BMP8B signaling disruption impairs osteoblast differentiation and bone formation, contributing to reduced bone mineral density. | Association studies (PMID: 15619630) |
| Male Infertility | BMP8B knockout mice show defects in spermatogenesis and germ cell development, indicating essential role in male fertility. | Mouse model (PMID: 10601010) |
| Obesity / Metabolic Syndrome | BMP8B regulates brown adipose tissue thermogenesis; altered expression may contribute to metabolic dysfunction. | Functional studies (PMID: 23395176) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Medium |
| Bone | 1.8 | Low |
| Brown Adipose Tissue | 2.5 | Medium |
| Brain | 0.9 | Low |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.3 | Low expression |
| K-562 | 0.1 | Not detected |
| MCF7 | 0.2 | Not detected |
| HepG2 | 0.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging (SIFT, PolyPhen) |
| c.832_833del (p.Leu278fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein are predicted to cause loss of function, impairing BMP signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BMP8B.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for BMP8B.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity (GO:0005125) | • growth factor activity (GO:0008083) |
| • transforming growth factor beta receptor binding (GO:0005160) | • eye development (GO:0001654) |
| • ossification (GO:0001503) | • spermatogenesis (GO:0007283) |
| • branching involved in ureteric bud morphogenesis (GO:0001658) | • regulation of transcription by RNA polymerase II (GO:0045449) |
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• BMP signaling pathway (Reactome: R-HSA-201451)
• Signaling by BMP (Reactome: R-HSA-201451)
Protein Summary
BMP8B is a secreted protein of 402 amino acids (precursor) that undergoes proteolytic processing to generate a mature, disulfide-linked homodimer. It contains a TGF-beta propeptide domain and a conserved TGF-beta domain. The protein binds to BMP type I and type II receptors, activating SMAD-dependent and SMAD-independent signaling cascades. BMP8B is essential for bone homeostasis, male fertility, and adaptive thermogenesis in brown adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP8B Knockout HEK293 Cell Line | EDJ-KQ50158 | Human | 656 | Details Get a Quote |
| BMP8B Knockout HeLa Cell Line | EDJ-KQ52728 | Human | 656 | Details Get a Quote |
| BMP8B Knockout A-549 Cell Line | EDJ-KQ61200 | Human | 656 | Details Get a Quote |
| BMP8B Knockout HCT 116 Cell Line | EDJ-KQ69691 | Human | 656 | Details Get a Quote |
