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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BMP2K
BMP2 inducible kinase
Chromosome 4 · 4q21.21
NCBI Gene: 55589Ensembl: ENSG00000138756.20HGNC: HGNC:18041UniProt: Q9NSY1
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnuclear speckprotein serine/threonine kinase activityphosphatase regulator activityneurodegenerative diseaseAlzheimer diseaselysosomal storage diseaseParkinson disease
✦AI Summary

BMP2K (bone morphogenetic protein 2-inducible kinase) is a serine/threonine kinase localized to the nucleus and cytoplasm with emerging roles in cell differentiation and intracellular transport. Primary functions include regulation of erythroid differentiation through alternative splicing variants that differentially control COPII assembly distribution and autophagy 1. BMP2K negatively regulates megakaryocyte polyploidization and differentiation by interacting with CDK2 and promoting mitosis 2, suggesting roles in cell cycle control. The protein associates with endocytic machinery including AP-2 adaptor complexes and Numb, regulating receptor trafficking and endocytosis 3. At the molecular level, BMP2K participates in regulatory networks controlling fibrosis: circular RNA derived from BMP2K (circ_BMP2K) inhibits cardiac fibroblast activation by enhancing miR-455-3p-mediated suppression of SUMO1 4. Disease relevance includes associations with acute megakaryoblastic leukemia, where BMP2K dysregulation promotes abnormal megakaryopoiesis and chemotherapy resistance 2, and acute lymphoblastic leukemia through ZNF384 fusion events 5. Genetic variants correlate with high myopia susceptibility 6, and BMP2K locus variants link to lupus nephritis through regulation of injury-responsive proximal tubule cells 7. Novel BMP2K::PDGFRA fusions in myeloid neoplasms indicate potential therapeutic targeting with tyrosine kinase inhibitors 8.

Sources cited
1
BMP2K splicing variants regulate erythroid differentiation through control of COPII assemblies and autophagy
PMID: 32795391
2
BMP2K negatively regulates megakaryocyte polyploidization and differentiation by interacting with CDK2
PMID: 32322386
3
BMP2K associates with endocytic adaptor proteins including Numb and AP-2 complex components
PMID: 23211419
4
Circular BMP2K RNA inhibits cardiac fibroblast activation through miR-455-3p/SUMO1 axis
PMID: 32413267
5
BMP2K is a fusion partner with ZNF384 in acute lymphoblastic leukemia
PMID: 37306722
6
BMP2K gene 1379 G/A variant associates with high myopia susceptibility
PMID: 19927351
7
BMP2K locus variants regulate injury-responsive proximal tubule cells in lupus nephritis
PMID: 40973516
8
Novel BMP2K::PDGFRA fusion detected in myeloid neoplasm with eosinophilia
PMID: 41131416
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
mathematical abilityOpen Targets
0.46Moderate
smoking initiationOpen Targets
0.42Moderate
neuroinflammatory disorderOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.26Weak
occlusion precerebral arteryOpen Targets
0.25Weak
ovarian dysfunctionOpen Targets
0.22Weak
goutOpen Targets
0.19Weak
insomniaOpen Targets
0.17Weak
systemic lupus erythematosusOpen Targets
0.14Weak
cardiomyopathyOpen Targets
0.12Weak
dengue diseaseOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
REPS1Protein interaction88%PICALMProtein interaction85%AP2S1Protein interaction82%AP2M1Protein interaction82%AP2B1Protein interaction79%NUMBProtein interaction75%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
44%
Heart
38%
Lung
32%
Liver
22%
Ovary
12%
Gene Interaction Network
Click a node to explore
BMP2KREPS1PICALMAP2S1AP2M1AP2B1NUMB
PROTEIN STRUCTURE
Preparing viewer…
PDB4W9W · 1.72 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.49–0.77]
RankingsWhere BMP2K stands among ~20K protein-coding genes
  • #7,431of 20,598
    Most Researched62
  • #6,214of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedBMP2K
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative spatial multiomics analysis reveals regulatory mechanisms of VCAM1
PMID: 40973516
Ann Rheum Dis · 2025
1.00
2
ZNF384-Related Fusion Genes in Acute Lymphoblastic Leukemia.
PMID: 37306722
Cancer Control · 2023
0.90
3
Circ_BMP2K enhances the regulatory effects of miR-455-3p on its target gene
PMID: 32413267
Biochem Cell Biol · 2020
0.80
4
Splicing variation of BMP2K balances abundance of COPII assemblies and autophagic degradation in erythroid cells.
PMID: 32795391
Elife · 2020
0.70
5
BMP2K dysregulation promotes abnormal megakaryopoiesis in acute megakaryoblastic leukemia.
PMID: 32322386
Cell Biosci · 2020
0.60