NUBP2
Nucleotide Binding Protein 2 (Minichromosome Maintenance Complex Component)
Gene Information Card
| Symbol | NUBP2 |
|---|---|
| Full Name | Nucleotide Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 10101 ncbi.nlm.nih.gov/gene/10101 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9Y5Y2 |
| OMIM ID | 610041 |
| HGNC ID | 17642 |
| Aliases | CFD1, MCM21, NBP2 |
Description
NUBP2 (Nucleotide Binding Protein 2) encodes a protein that is a component of the cytosolic iron-sulfur cluster assembly (CIA) complex and also associates with the minichromosome maintenance (MCM) complex. It is involved in iron-sulfur cluster biogenesis, DNA replication, and cell cycle progression. The gene is located on chromosome 16p13.3 and is widely expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect DNA replication and genomic stability | COSMIC database reports mutations in multiple cancer types |
| Neurodevelopmental disorders | Potential role in iron-sulfur cluster biogenesis affecting neuronal function | Limited evidence from case studies and functional assays |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Moderate expression |
| K562 | 12.0 | Moderate expression |
| A549 | 9.8 | Low 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% | Unknown functional impact |
| c.512C>T (p.Pro171Leu) | Missense | <0.01% | Predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • iron-sulfur cluster assembly | • DNA replication |
| • cell cycle | • nucleotide binding |
| • protein binding |
Pathways
• Cytosolic iron-sulfur cluster assembly
• MCM complex pathway
Protein Summary
The NUBP2 protein (UniProt Q9Y5Y2) is 261 amino acids long and contains a nucleotide-binding domain. It functions as part of the CIA complex, facilitating the incorporation of iron-sulfur clusters into target proteins, and also interacts with the MCM complex to support DNA replication. The protein is localized to the cytoplasm and nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUBP2 Knockout HEK293 Cell Line | EDJ-KQ50931 | Human | 10101 | Details Get a Quote |
| NUBP2 Knockout HeLa Cell Line | EDJ-KQ55318 | Human | 10101 | Details Get a Quote |
| NUBP2 Knockout A-549 Cell Line | EDJ-KQ63802 | Human | 10101 | Details Get a Quote |
| NUBP2 Knockout HCT 116 Cell Line | EDJ-KQ72261 | Human | 10101 | Details Get a Quote |
