NCAPD3
Non-SMC Condensin II Complex Subunit D3
Gene Information Card
| Symbol | NCAPD3 |
|---|---|
| Full Name | Non-SMC Condensin II Complex Subunit D3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q25 |
| NCBI Gene ID | 23310 ncbi.nlm.nih.gov/gene/23310 |
| Ensembl ID | ENSG00000151465 |
| UniProt ID | Q86XI2 |
| OMIM ID | 609273 |
| HGNC ID | 28952 |
| Aliases | CAP-D3, KIAA0056, hCAP-D3, CAPD3 |
Description
NCAPD3 encodes a subunit of the condensin II complex, which is essential for chromosome condensation and segregation during mitosis. The condensin II complex is involved in the compaction of chromatin into chromosomes, ensuring proper mitotic progression and genomic stability. NCAPD3 interacts with other condensin II subunits (NCAPD2, NCAPG2, NCAPH2) and is regulated by phosphorylation during the cell cycle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of NCAPD3 may promote tumorigenesis by disrupting chromosome condensation and segregation, leading to aneuploidy. | PMID: 25691885 |
| Colorectal cancer | NCAPD3 is upregulated in colorectal cancer tissues and associated with poor prognosis; may contribute to chromosomal instability. | PMID: 29367642 |
| Hepatocellular carcinoma | NCAPD3 expression is elevated in liver cancer and correlates with tumor progression and metastasis. | PMID: 31065109 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 10.5 | Medium |
| Lymph node | 8.3 | Low |
| Brain | 4.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.1 | Cervical cancer cell line |
| K562 | 9.8 | Leukemia cell line |
| A549 | 7.5 | Lung cancer cell line |
| MCF7 | 6.2 | Breast 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 | <0.1% | Loss of function; predicted to cause truncation of the protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; predicted to cause truncation of the protein |
| c.2345A>G (p.Tyr782Cys) | Missense | <0.1% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to result in loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data:
Gene Ontology (GO)
| • chromosome condensation | • mitotic chromosome condensation |
| • condensin complex | • nucleus |
| • protein binding |
Pathways
• Cell Cycle
• Mitotic
• Chromosome Maintenance
• Condensin II Complex
Protein Summary
NCAPD3 is a 1,498-amino acid protein that serves as a regulatory subunit of the condensin II complex. It contains HEAT repeats that mediate protein-protein interactions and is essential for the ATP-dependent compaction of chromosomes. The protein is localized to the nucleus during interphase and associates with chromosomes during mitosis.
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