CENPB: Centromere Protein B
A key structural component of the centromere, essential for kinetochore assembly and chromosome segregation.
Gene Information Card
| Symbol | CENPB |
|---|---|
| Full Name | Centromere Protein B |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 1059 ncbi.nlm.nih.gov/gene/1059 |
| Ensembl ID | ENSG00000125817 |
| UniProt ID | P07199 |
| OMIM ID | 117140 |
| HGNC ID | 1852 |
| Aliases | CENP-B, MGC2636 |
Description
CENPB encodes centromere protein B, a DNA-binding protein that specifically recognizes the centromeric 17-bp CENP-B box sequence. It is a fundamental component of the inner kinetochore plate and is required for proper centromere formation and chromosome segregation during mitosis. CENPB is also a major autoantigen in systemic sclerosis (scleroderma).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic sclerosis (scleroderma) | Autoantibodies against CENPB are a hallmark of the limited cutaneous form (CREST syndrome). | ClinVar, OMIM |
| Cancer (various) | Altered CENPB expression and mutations contribute to chromosomal instability and aneuploidy. | COSMIC, NCBI Gene |
| Primary biliary cholangitis | Anti-centromere antibodies (including anti-CENPB) are detected in a subset of patients. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical carcinoma cell line |
| K562 | 14.7 | Leukemia cell line |
| A549 | 11.2 | Lung carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.104C>T (p.Thr35Met) | Missense | 0.01% | Unknown significance |
| c.455G>A (p.Arg152Gln) | Missense | 0.005% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CENPB are rare but may impair centromere binding and kinetochore assembly, leading to mitotic defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • chromosome segregation (GO:0007059) | • cell division (GO:0051301) |
Pathways
• KEGG: Cell cycle (hsa04110)
• Reactome: Mitotic Prometaphase (R-HSA-68877)
• Reactome: Chromosome Maintenance (R-HSA-73886)
Protein Summary
Centromere protein B (CENP-B) is a 599-amino acid protein that binds specifically to the CENP-B box DNA sequence in centromeric alpha-satellite repeats. It contains a DNA-binding domain at the N-terminus and a dimerization domain at the C-terminus. CENP-B is essential for recruiting other centromere proteins and for proper kinetochore function. It is also a major autoantigen in systemic sclerosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CENPB Knockout HEK293 Cell Line | EDJ-KQ4251 | Human | 1059 | Details Get a Quote |
| CENPB Knockout A-549 Cell Line | EDJ-KQ26727 | Human | 1059 | Details Get a Quote |
| CENPB Knockout HCT 116 Cell Line | EDJ-KQ26728 | Human | 1059 | Details Get a Quote |
| CENPB Knockout HeLa Cell Line | EDJ-KQ26729 | Human | 1059 | Details Get a Quote |
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