NCAPH2: Non-SMC Condensin II Complex Subunit H2
Key regulator of chromosome condensation and segregation
Gene Information Card
| Symbol | NCAPH2 |
|---|---|
| Full Name | Non-SMC Condensin II Complex Subunit H2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 29781 ncbi.nlm.nih.gov/gene/29781 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | Q6IBW4 |
| OMIM ID | 617711 |
| HGNC ID | 25027 |
| Aliases | CAP-H2, MCPH17, FLJ20309 |
Description
NCAPH2 encodes a regulatory subunit of the condensin II complex, which is essential for chromosome condensation and segregation during mitosis and meiosis. The protein interacts with other condensin subunits to facilitate proper chromatin organization and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly 17, primary, autosomal recessive | Loss-of-function mutations impair condensin II function, leading to defective chromosome condensation and reduced brain size | OMIM #617711 |
| Breast cancer | Overexpression or amplification may disrupt chromosome segregation, contributing to aneuploidy | COSMIC |
| Colorectal cancer | Somatic mutations and altered expression linked to genomic instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| K562 | 9.1 | Leukemia cell line |
| A549 | 7.8 | Lung cancer cell line |
| MCF7 | 6.5 | Breast cancer 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.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.1048G>A (p.Glu350Lys) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing condensin II complex assembly and function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • condensin complex (GO:0000776) | • nucleus (GO:0005634) |
| • mitotic chromosome condensation (GO:0007076) | • protein binding (GO:0005515) |
| • cell division (GO:0051301) |
Pathways
• Condensin II complex - chromosome condensation
• Cell cycle - mitotic phase
Protein Summary
NCAPH2 is a 718-amino acid protein that serves as a regulatory subunit of the condensin II complex. It contains HEAT repeats and is involved in ATP-dependent chromosome condensation. The protein localizes to the nucleus and is essential for proper mitotic chromosome architecture.
Related Services
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|---|---|---|---|---|
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