CNTROB
Centrobin, Centriole Duplication and Spindle Assembly Protein
Gene Information Card
| Symbol | CNTROB |
|---|---|
| Full Name | Centrobin, Centriole Duplication and Spindle Assembly Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 116840 ncbi.nlm.nih.gov/gene/116840 |
| Ensembl ID | ENSG00000170037 |
| UniProt ID | Q8N137 |
| OMIM ID | 611425 |
| HGNC ID | 29616 |
| Aliases | FLJ10597, MGC131831, MGC14891, NIP2, PP1221 |
Description
CNTROB (centrobin) encodes a centrosomal protein that localizes to the centriole and is required for centriole duplication and spindle assembly during mitosis. It interacts with BRCA2 and is involved in maintaining centrosome integrity. Mutations in CNTROB are associated with primary microcephaly and Seckel syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 17 (MCPH17) | Loss-of-function mutations impair centriole duplication, reducing neural progenitor cell proliferation | OMIM 617090 |
| Seckel syndrome 9 (SCKL9) | Biallelic CNTROB mutations disrupt centrosome function, leading to dwarfism and microcephaly | OMIM 617253 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Lymph node | 7.5 | Low |
| Bone marrow | 6.9 | Low |
| Ovary | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma |
| HEK 293 | 11.8 | Embryonic kidney |
| K562 | 9.1 | Leukemia |
| HepG2 | 7.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | nonsense | Rare | Loss of function; associated with MCPH17 |
| c.487C>T (p.Arg163Trp) | missense | Rare | Impaired centriole duplication; Seckel syndrome |
| c.1015C>T (p.Arg339*) | nonsense | Rare | Loss of function; microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, loss of centriole duplication activity, and microcephaly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • centriole |
| • microtubule organizing center | • protein binding |
| • cell cycle | • mitotic spindle organization |
| • centriole replication |
Pathways
• Centrosome maturation
• Cell cycle
• mitotic
Protein Summary
Centrobin is a 904-amino acid protein (≈100 kDa) that localizes to the centriole and is essential for centriole duplication. It contains a conserved N-terminal domain and interacts with BRCA2 and other centrosomal proteins. Its expression is cell cycle-regulated, peaking in G2/M phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNTROB Knockout HEK293 Cell Line | EDJ-KQ7583 | Human | 116840 | Details Get a Quote |
| CNTROB Knockout A-549 Cell Line | EDJ-KQ32901 | Human | 116840 | Details Get a Quote |
| CNTROB Knockout HCT 116 Cell Line | EDJ-KQ32902 | Human | 116840 | Details Get a Quote |
| CNTROB Knockout HeLa Cell Line | EDJ-KQ32903 | Human | 116840 | Details Get a Quote |
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