NCAPD2
Non-SMC Condensin I Complex Subunit D2
Gene Information Card
| Symbol | NCAPD2 |
|---|---|
| Full Name | Non-SMC Condensin I Complex Subunit D2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 9918 ncbi.nlm.nih.gov/gene/9918 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q15021 |
| OMIM ID | 615638 |
| HGNC ID | 24305 |
| Aliases | CAP-D2, CNAP1, hCAP-D2, KIAA0159 |
Description
NCAPD2 encodes a subunit of the condensin I complex, which is essential for chromosome condensation and segregation during mitosis. The protein interacts with other condensin subunits to facilitate ATP-dependent DNA supercoiling and chromatin compaction. Mutations in NCAPD2 are associated with primary microcephaly and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Loss-of-function mutations impair chromosome condensation, leading to reduced brain size | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and copy number alterations may disrupt mitotic fidelity | COSMIC |
| Breast cancer | Overexpression or amplification linked to genomic instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| K562 | 18.4 | Leukemia cell line |
| A549 | 14.7 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.01% | Loss of function, associated with microcephaly |
| c.567_568del (p.Glu190fs) | Frameshift | 0.005% | Loss of function, reported in ClinVar |
| c.2101A>G (p.Thr701Ala) | Missense | 0.02% | Unknown significance, found in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, impairing condensin I complex assembly and chromosome condensation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • chromosome condensation | • mitotic cell cycle |
| • ATP binding | • protein binding |
| • nucleus |
Pathways
• Cell Cycle
• Mitotic
• Condensation of Prophase Chromosomes
• Chromosome Maintenance
Protein Summary
NCAPD2 is a 1,402-amino acid protein that functions as a regulatory subunit of the condensin I complex. It contains HEAT repeats and is required for the complex's ATPase activity. The protein localizes to chromosomes during mitosis and is essential for proper sister chromatid cohesion and segregation.
Related Services
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|---|---|---|---|---|
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