SSBP2: Single-Stranded DNA Binding Protein 2
A key regulator of genome stability and hematopoiesis
Gene Information Card
| Symbol | SSBP2 |
|---|---|
| Full Name | Single-stranded DNA binding protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 23635 ncbi.nlm.nih.gov/gene/23635 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | P81877 |
| OMIM ID | 603896 |
| HGNC ID | 11326 |
| Aliases | SSBP2, HsT17463, SOSS-B2, SSDP2, single-stranded DNA binding protein 2 |
Description
SSBP2 (single-stranded DNA binding protein 2) encodes a protein that binds single-stranded DNA and is a component of the SOSS (sensor of single-stranded DNA) complex. This complex plays a critical role in DNA damage response, homologous recombination repair, and maintenance of genomic stability. SSBP2 is also involved in hematopoiesis and is frequently dysregulated in acute myeloid leukemia (AML) and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | SSBP2 is a tumor suppressor; loss of expression or deletion contributes to leukemogenesis via impaired DNA repair and genomic instability. | PMID: 15692071, COSMIC |
| Myelodysplastic syndromes | Deletion or downregulation of SSBP2 is associated with disease progression and poor prognosis. | PMID: 15692071, ClinVar |
| Breast cancer | Reduced SSBP2 expression correlates with increased genomic instability and poor outcome. | PMID: 23334667 |
| Colorectal cancer | SSBP2 mutations and loss of heterozygosity observed in tumor samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lymph node | 7.1 | Low |
| Testis | 6.8 | Low |
| Brain | 4.2 | Low |
| Heart | 3.9 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HL-60 (leukemia) | 11.8 | Medium expression |
| MCF7 (breast cancer) | 6.5 | Low expression |
| HeLa (cervical cancer) | 5.1 | Low expression |
| HEK293 (embryonic kidney) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | 0.02% | Loss of start codon; likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | 0.01% | Premature stop; loss of function |
| c.487_488del (p.Leu163fs) | Frameshift | 0.01% | Frameshift; loss of function |
| c.632G>A (p.Arg211Gln) | Missense | 0.03% | Unknown significance; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent SSBP2 protein, impairing DNA repair and promoting genomic instability.
Gain of Function (GOF)
No gain-of-function mutations reported for SSBP2.
Dominant Negative (DN)
No dominant-negative mutations reported for SSBP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Homologous recombination repair (Reactome: R-HSA-5693568)
• DNA damage response (KEGG: hsa03440)
• SOSS complex pathway (Reactome: R-HSA-5693571)
Protein Summary
SSBP2 is a 359-amino acid protein containing a single-stranded DNA-binding domain. It forms the SOSS-B complex with INTS3 and hSSB1, which is recruited to sites of DNA damage to facilitate homologous recombination. SSBP2 also interacts with the MRN complex and ATM kinase, promoting efficient DNA repair. Loss of SSBP2 leads to increased sensitivity to DNA-damaging agents and chromosomal aberrations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSBP2 Knockout HEK293 Cell Line | EDJ-KQ8111 | Human | 23635 | Details Get a Quote |
| SSBP2 Knockout A-549 Cell Line | EDJ-KQ33986 | Human | 23635 | Details Get a Quote |
| SSBP2 Knockout HeLa Cell Line | EDJ-KQ33988 | Human | 23635 | Details Get a Quote |
| SSBP2 Knockout HCT 116 Cell Line | EDJ-KQ32648 | Human | 23635 | Details Get a Quote |
