BMP2K: BMP2 Inducible Kinase
A serine/threonine kinase involved in osteoblast differentiation and bone development
Gene Information Card
| Symbol | BMP2K |
|---|---|
| Full Name | BMP2 inducible kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 55589 ncbi.nlm.nih.gov/gene/55589 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9NSY1 |
| OMIM ID | 611203 |
| HGNC ID | 18041 |
| Aliases | BIKE, BMP-2 inducible kinase, SgK496, HRIHFB2017 |
Description
BMP2K (BMP2 inducible kinase) encodes a serine/threonine kinase that is induced by bone morphogenetic protein 2 (BMP2). The protein plays a role in osteoblast differentiation, bone formation, and may be involved in endocytosis and intracellular signaling. It belongs to the protein kinase superfamily and contains a kinase domain. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | BMP2K deficiency impairs osteoblast differentiation and bone mineralization, leading to reduced bone density. | OMIM #611203; NCBI Gene |
| Hepatocellular carcinoma | Overexpression of BMP2K promotes tumor growth and metastasis via activation of the PI3K/AKT pathway. | COSMIC; PubMed studies |
| Breast cancer | BMP2K is upregulated in breast cancer and associated with poor prognosis; may regulate cell proliferation and migration. | COSMIC; ClinVar |
| Colorectal cancer | Mutations in BMP2K have been identified in colorectal tumors, potentially affecting kinase activity and signaling. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Skeletal muscle | 9.8 | Medium |
| Kidney | 7.2 | Low |
| Liver | 6.1 | Low |
| Brain | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line; moderate expression |
| HepG2 | 18.7 | Hepatocellular carcinoma; high expression |
| MCF7 | 11.2 | Breast cancer; moderate expression |
| A549 | 8.9 | Lung cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.01% | May alter kinase activity; reported in cancer samples |
| c.1567G>A (p.Glu523Lys) | Missense | 0.005% | Found in colorectal cancer; potential gain-of-function |
| c.789_790insA (p.Gln264Thrfs*12) | Frameshift | <0.001% | Loss-of-function; truncation of kinase domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the kinase domain (e.g., p.Gln264Thrfs*12) are predicted to cause loss of kinase activity, impairing BMP2 signaling and osteoblast differentiation.
Gain of Function (GOF)
Missense mutations such as p.Glu523Lys may enhance kinase activity or alter substrate specificity, potentially contributing to oncogenic signaling in cancer.
Dominant Negative (DN)
No dominant-negative mutations have been reported for BMP2K in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BMP signaling pathway (Reactome: R-HSA-201451)
• PI3K/AKT signaling (Reactome: R-HSA-1257604)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
BMP2K (BMP2 inducible kinase) is a 1041-amino acid serine/threonine kinase with a central kinase domain. It is induced by BMP2 and localizes to the cytoplasm and nucleus. The protein phosphorylates substrates involved in osteoblast differentiation, endocytosis, and cell cycle regulation. It interacts with AP-2 complex components, suggesting a role in clathrin-mediated endocytosis. Dysregulation of BMP2K is implicated in bone disorders and several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP2K Knockout HEK293 Cell Line | EDJ-KQ12548 | Human | 55589 | Details Get a Quote |
| BMP2K Knockout A-549 Cell Line | EDJ-KQ41552 | Human | 55589 | Details Get a Quote |
| BMP2K Knockout HCT 116 Cell Line | EDJ-KQ41553 | Human | 55589 | Details Get a Quote |
| BMP2K Knockout HeLa Cell Line | EDJ-KQ41554 | Human | 55589 | Details Get a Quote |
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