NIBAN2 Gene (Niban Apoptosis Regulator 2)
A comprehensive overview of NIBAN2, including its genomic context, expression, and associated diseases.
Gene Information Card
| Symbol | NIBAN2 |
|---|---|
| Full Name | Niban Apoptosis Regulator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 64759 ncbi.nlm.nih.gov/gene/64759 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q96TA1 |
| OMIM ID | 610292 |
| HGNC ID | 25991 |
| Aliases | FAM129B, C9orf88, MINERVA |
Description
NIBAN2 (Niban Apoptosis Regulator 2), also known as FAM129B, is a protein-coding gene located on chromosome 9q34.13. It encodes a protein involved in the regulation of apoptosis and cell survival. NIBAN2 is expressed in various tissues and has been implicated in cancer progression and other cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression promotes cell survival and resistance to apoptosis | COSMIC, PubMed |
| Renal cell carcinoma | Upregulation associated with tumor growth and poor prognosis | PubMed |
| Melanoma | Involved in cell migration and invasion | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Liver | 10.8 | Medium |
| Lung | 8.5 | Low |
| Breast | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 9.7 | Moderate expression |
| A549 | 7.1 | Low expression |
| MCF7 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010C>T (p.Thr337Met) | Missense | <0.1% | Unknown functional impact |
| c.1456G>A (p.Gly486Ser) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in cell survival.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process | • negative regulation of apoptotic process |
| • protein binding | • cytoplasm |
Pathways
• Apoptosis
• p53 signaling pathway
Protein Summary
The NIBAN2 protein is a cytoplasmic protein that regulates apoptosis. It is thought to modulate cell survival pathways, and its overexpression in various cancers suggests a role in tumorigenesis by inhibiting programmed cell death.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NIBAN2 Knockout HEK293 Cell Line | EDJ-KQ587 | Human | 64855 | Details Get a Quote |
| NIBAN2 Knockout A-549 Cell Line | EDJ-KQ20354 | Human | 64855 | Details Get a Quote |
| NIBAN2 Knockout HCT 116 Cell Line | EDJ-KQ20355 | Human | 64855 | Details Get a Quote |
| NIBAN2 Knockout HeLa Cell Line | EDJ-KQ20356 | Human | 64855 | Details Get a Quote |
