NABP2
Nucleic Acid Binding Protein 2
Gene Information Card
| Symbol | NABP2 |
|---|---|
| Full Name | Nucleic Acid Binding Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 22909 ncbi.nlm.nih.gov/gene/22909 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9BQ15 |
| OMIM ID | 611425 |
| HGNC ID | 23274 |
| Aliases | OBFC2A, hSSB2, SOSS-B2, SSB-like protein 2 |
Description
NABP2 encodes a nucleic acid binding protein that is a component of the SOSS (Sensor of Single-Strand DNA) complex. The protein binds single-stranded DNA and is involved in DNA damage response, homologous recombination repair, and maintenance of genomic stability. It interacts with other SOSS complex subunits and is recruited to sites of DNA double-strand breaks.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NABP2 overexpression may promote genomic instability and tumor progression | ClinVar, COSMIC |
| Ovarian cancer | Altered expression linked to DNA repair defects | COSMIC |
| Fanconi anemia | Potential role in FA pathway due to involvement in DNA repair | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 9.8 | Medium |
| Lymph node | 8.2 | Medium |
| Brain | 4.1 | Low |
| Liver | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 11.0 | Embryonic kidney cells |
| MCF7 | 9.5 | Breast cancer cell line |
| K562 | 7.8 | Leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.1% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Reported in COSMIC |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein expression.
Gain of Function (GOF)
Not well characterized; some missense variants may alter DNA binding.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data:
Gene Ontology (GO)
| • single-stranded DNA binding | • DNA repair |
| • double-strand break repair via homologous recombination | • nucleus |
| • protein-containing complex |
Pathways
• Homologous recombination
• DNA damage response
• SOSS complex pathway
Protein Summary
NABP2 (also known as OBFC2A) is a 207-amino acid protein containing an oligonucleotide/oligosaccharide-binding (OB) fold. It binds single-stranded DNA with high affinity and is part of the SOSS complex, which facilitates the recruitment of repair factors to DNA breaks. The protein is ubiquitously expressed with higher levels in testis and bone marrow.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NABP2 Knockout HEK293 Cell Line | EDJ-KQ14360 | Human | 79035 | Details Get a Quote |
| NABP2 Knockout A-549 Cell Line | EDJ-KQ44489 | Human | 79035 | Details Get a Quote |
| NABP2 Knockout HCT 116 Cell Line | EDJ-KQ44490 | Human | 79035 | Details Get a Quote |
| NABP2 Knockout HeLa Cell Line | EDJ-KQ44491 | Human | 79035 | Details Get a Quote |