NSA2 Gene - Ribosome Biogenesis Factor
NSA2, encoding a ribosome biogenesis factor, is involved in cell growth and proliferation, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | NSA2 |
|---|---|
| Full Name | NSA2 ribosome biogenesis factor |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.3 |
| NCBI Gene ID | 10412 ncbi.nlm.nih.gov/gene/10412 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | Q9BXS5 |
| OMIM ID | 616637 |
| HGNC ID | 29858 |
| Aliases | HUSSY-26, HUSSY26, NSA2, TINP1 |
Description
The NSA2 gene encodes a nucleolar protein involved in ribosome biogenesis, specifically in the processing of pre-rRNA and assembly of the 60S ribosomal subunit. It is highly conserved across eukaryotes and plays a role in cell growth, proliferation, and stress response. NSA2 is overexpressed in several cancers and has been associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of NSA2 promotes cell proliferation and ribosome biogenesis, contributing to tumor growth. | Multiple studies show elevated NSA2 mRNA and protein in breast, lung, and colorectal cancers. |
| Developmental disorders | Mutations in NSA2 may disrupt ribosome biogenesis, leading to growth defects. | Rare variants reported in patients with intellectual disability and microcephaly (ClinVar). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| HEK293 | 16.2 | Embryonic kidney cells |
| A549 | 14.7 | Lung cancer cell line |
| MCF7 | 13.1 | 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 | Likely loss of start codon, unknown effect |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance (ClinVar) |
| c.347G>A (p.Arg116His) | Missense | <0.01% | Unknown significance (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported; predicted to impair ribosome biogenesis.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in proliferation.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
The NSA2 protein is a 27 kDa nucleolar factor that localizes to the dense fibrillar component of the nucleolus. It contains a conserved domain (DUF429) and interacts with ribosomal proteins and snoRNPs to facilitate pre-rRNA cleavage and 60S subunit assembly. NSA2 is essential for cell viability and its dysregulation is linked to cancer progression.
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