NIPSNAP2
Nipsnap Homolog 2 (C. elegans)
Gene Information Card
| Symbol | NIPSNAP2 |
|---|---|
| Full Name | Nipsnap Homolog 2 (C. elegans) |
| Gene Type | Protein coding |
| Chromosomal Location | 7p11.2 |
| NCBI Gene ID | 10261 ncbi.nlm.nih.gov/gene/10261 |
| Ensembl ID | ENSG00000146733 |
| UniProt ID | O75323 |
| OMIM ID | 609984 |
| HGNC ID | 4170 |
| Aliases | GBAS, C7orf16, NIPSNAP2 |
Description
NIPSNAP2 (Nipsnap Homolog 2) is a protein-coding gene located on chromosome 7p11.2. It encodes a mitochondrial protein that is part of the NIPSNAP family, characterized by a conserved NIPSNAP domain. The protein is involved in mitochondrial function and has been implicated in cellular stress responses. The gene is also known as GBAS (Glioblastoma Amplified Sequence) due to its amplification in glioblastoma multiforme.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma multiforme | Gene amplification and overexpression may contribute to tumor progression | COSMIC, NCBI Gene |
| Breast cancer | Altered expression observed in tumor samples | NCBI Gene, COSMIC |
| Colorectal cancer | Somatic mutations reported in COSMIC | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 10.1 | Low |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 12.3 | Medium expression |
| MCF7 | 9.8 | Low expression |
| A549 | 14.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | 0.005% (gnomAD) | Unknown functional impact |
| Amplification | Copy number gain | Frequent in glioblastoma (COSMIC) | Potential oncogenic effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Amplification in glioblastoma may represent a gain-of-function mechanism.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrion | • Protein binding |
| • Cellular response to stress |
Pathways
• No specific pathway annotations in Reactome or KEGG for NIPSNAP2.
Protein Summary
The NIPSNAP2 protein (UniProt O75323) is a 237-amino acid mitochondrial protein containing a conserved NIPSNAP domain. It is predicted to localize to the mitochondrial matrix and may play a role in mitochondrial homeostasis and stress response. The protein is ubiquitously expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NIPSNAP2 Knockout HEK293 Cell Line | EDJ-KQ4692 | Human | 2631 | Details Get a Quote |
| NIPSNAP2 Knockout A-549 Cell Line | EDJ-KQ27400 | Human | 2631 | Details Get a Quote |
| NIPSNAP2 Knockout HCT 116 Cell Line | EDJ-KQ27401 | Human | 2631 | Details Get a Quote |
| NIPSNAP2 Knockout HeLa Cell Line | EDJ-KQ27402 | Human | 2631 | Details Get a Quote |
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