CKB Gene - Creatine Kinase B
Comprehensive gene card for CKB, encoding brain-type creatine kinase, with roles in energy homeostasis and disease.
Gene Information Card
| Symbol | CKB |
|---|---|
| Full Name | creatine kinase B |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 1152 ncbi.nlm.nih.gov/gene/1152 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | P12277 |
| OMIM ID | 123280 |
| HGNC ID | 1991 |
| Aliases | CKBB, B-CK, CK-B, HEL-206, HEL-S-31 |
Description
The CKB gene encodes the brain-type (B) subunit of creatine kinase, a cytosolic enzyme that catalyzes the reversible transfer of phosphate from phosphocreatine to ADP, generating ATP. This enzyme is critical for cellular energy buffering and homeostasis, particularly in tissues with high and fluctuating energy demands such as brain, smooth muscle, and photoreceptor cells. CKB exists as a homodimer (CK-BB) or heterodimer with the muscle-type subunit (CKM).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | CKB overexpression supports cancer cell energy metabolism and metastasis; elevated serum CK-BB is a biomarker. | PMID: 25977310 |
| Breast Cancer | CKB upregulation correlates with poor prognosis; promotes invasion via ATP regeneration. | PMID: 28991257 |
| Alzheimer's Disease | Reduced CKB activity in brain regions; altered creatine/phosphocreatine ratio linked to neurodegeneration. | PMID: 12676536 |
| Retinitis Pigmentosa | CKB mutations (e.g., p.Arg90His) impair photoreceptor energy metabolism, leading to retinal degeneration. | PMID: 30862700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Heart | 6.2 | Medium |
| Skeletal Muscle | 3.1 | Low |
| Kidney | 4.8 | Medium |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.3 | High expression |
| HeLa (cervical) | 8.7 | Moderate expression |
| MCF7 (breast) | 12.1 | Moderate-high expression |
| HepG2 (liver) | 2.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.269G>A (p.Arg90His) | Missense | <0.01% | Impaired catalytic activity; associated with retinitis pigmentosa |
| c.538C>T (p.Arg180Trp) | Missense | <0.01% | Reduced protein stability; reported in cancer |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg90His) reduce enzymatic activity, impairing ATP regeneration in energy-demanding tissues like retina.
Gain of Function (GOF)
Not reported for CKB.
Dominant Negative (DN)
Not reported for CKB.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Creatine metabolism (Reactome: R-HSA-71291)
• Arginine and proline metabolism (KEGG: hsa00330)
Protein Summary
The CKB protein (381 amino acids, ~42.6 kDa) is a cytosolic enzyme that forms homodimers (CK-BB) or heterodimers with CKM. It catalyzes the reversible phosphorylation of creatine to phosphocreatine, buffering cellular ATP levels. Highly expressed in brain, retina, and smooth muscle, CKB is also implicated in cancer metabolism and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCKBR Knockout HEK293 Cell Line | EDJ-KQ1607 | Human | 887 | Details Get a Quote |
| CKB Knockout HEK293 Cell Line | EDJ-KQ50191 | Human | 1152 | Details Get a Quote |
| CCKBR Knockout HeLa Cell Line | EDJ-KQ52803 | Human | 887 | Details Get a Quote |
| CKB Knockout HeLa Cell Line | EDJ-KQ52912 | Human | 1152 | Details Get a Quote |
| CCKBR Knockout A-549 Cell Line | EDJ-KQ61274 | Human | 887 | Details Get a Quote |
| CKB Knockout A-549 Cell Line | EDJ-KQ61378 | Human | 1152 | Details Get a Quote |
| CCKBR Knockout HCT 116 Cell Line | EDJ-KQ69769 | Human | 887 | Details Get a Quote |
| CKB Knockout HCT 116 Cell Line | EDJ-KQ69874 | Human | 1152 | Details Get a Quote |
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