NCAPG2
Non-SMC Condensin II Complex Subunit G2
Gene Information Card
| Symbol | NCAPG2 |
|---|---|
| Full Name | Non-SMC Condensin II Complex Subunit G2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 54892 ncbi.nlm.nih.gov/gene/54892 |
| Ensembl ID | ENSG00000146918 |
| UniProt ID | Q86XI2 |
| OMIM ID | 608532 |
| HGNC ID | 24564 |
| Aliases | CAP-G2, CAPG2, hCAP-G2, FLJ12788 |
Description
NCAPG2 encodes a subunit of the condensin II complex, which is essential for chromosome condensation and segregation during mitosis. The protein localizes to the nucleus and interacts with other condensin subunits to facilitate proper chromosome architecture. Mutations in NCAPG2 have been associated with primary microcephaly and various cancers, where altered expression may contribute to genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Loss-of-function mutations impair chromosome condensation, leading to reduced brain size | PMID: 27616479 |
| Breast cancer | Overexpression promotes cell proliferation and chromosomal instability | PMID: 29367642 |
| Hepatocellular carcinoma | Upregulation correlates with poor prognosis and tumor progression | PMID: 31065109 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 25.1 | Medium |
| Lymph node | 22.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.0 | Cervical adenocarcinoma |
| K562 | 38.5 | Chronic myeloid leukemia |
| A549 | 30.2 | Lung carcinoma |
| MCF7 | 28.7 | Breast adenocarcinoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1567G>A (p.Glu523Lys) | Missense | 0.01% | Unknown significance |
| c.2101_2102insA (p.Thr701Asnfs*3) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in NCAPG2 lead to truncated proteins, impairing condensin II function and causing chromosome segregation defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NCAPG2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NCAPG2.
View complete mutation data:
Gene Ontology (GO)
| • chromosome condensation | • mitotic cell cycle |
| • nucleus | • protein binding |
| • condensin complex |
Pathways
• Cell Cycle
• Mitotic
• Chromosome Maintenance
• Condensin II Complex
Protein Summary
NCAPG2 is a 1,015-amino-acid protein that forms part of the condensin II complex. It contains HEAT repeat domains and is involved in ATP-dependent chromosome condensation. The protein is predominantly nuclear and interacts with NCAPD3 and NCAPH2 to regulate mitotic chromosome architecture.
Related Services
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