RAD9B
RAD9 Checkpoint Clamp Component B
Gene Information Card
| Symbol | RAD9B |
|---|---|
| Full Name | RAD9 Checkpoint Clamp Component B |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 144715 ncbi.nlm.nih.gov/gene/144715 |
| Ensembl ID | ENSG00000151164 |
| UniProt ID | Q6WBX8 |
| OMIM ID | 608368 |
| HGNC ID | 21702 |
| Aliases | RAD9L, hRAD9B, RAD9B_HUMAN |
Description
RAD9B is a component of the 9-1-1 cell-cycle checkpoint response complex (RAD9-HUS1-RAD1). It plays a critical role in DNA damage recognition and repair, activating cell cycle checkpoints in response to genotoxic stress. RAD9B is paralogous to RAD9A and is involved in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may disrupt DNA damage checkpoint, promoting genomic instability | PMID: 21362557 |
| Lung cancer | RAD9B overexpression correlates with poor prognosis and resistance to therapy | PMID: 25642765 |
| Colorectal cancer | Mutations in RAD9B may impair 9-1-1 complex function, leading to defective DNA repair | PMID: 28481328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| A549 | 7.5 | Lung cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| HEK293 | 5.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Thr116Met) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.502G>A (p.Gly168Arg) | Missense | 0.002% (gnomAD) | Potential loss of function |
| c.631_633del (p.Lys211del) | In-frame deletion | Rare | May disrupt protein-protein interaction |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair RAD9B binding to HUS1 or RAD1, reducing checkpoint activation.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may confer resistance to DNA damage.
Dominant Negative (DN)
Truncating or missense variants that disrupt 9-1-1 complex assembly and function.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage checkpoint signaling (GO:0000077) | • nucleus (GO:0005634) |
| • nucleoplasm (GO:0005654) | • checkpoint clamp complex (GO:0030896) |
| • positive regulation of DNA damage response (GO:0043517) |
Pathways
• Cell Cycle Checkpoints (Reactome: R-HSA-69620)
• DNA Damage Recognition in GG-NER (Reactome: R-HSA-5696399)
• p53-Dependent G1 DNA Damage Response (Reactome: R-HSA-69580)
Protein Summary
RAD9B is a 391-amino acid protein that forms part of the heterotrimeric 9-1-1 complex. It contains a PCNA-like domain and is involved in DNA damage checkpoint activation. The protein localizes to the nucleus and interacts with HUS1 and RAD1. RAD9B is highly expressed in testis and shows moderate expression in bone marrow and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD9B Knockout HEK293 Cell Line | EDJ-KQ10426 | Human | 144715 | Details Get a Quote |
| RAD9B Knockout HeLa Cell Line | EDJ-KQ37794 | Human | 144715 | Details Get a Quote |
| RAD9B Knockout A-549 Cell Line | EDJ-KQ67001 | Human | 144715 | Details Get a Quote |
| RAD9B Knockout HCT 116 Cell Line | EDJ-KQ75402 | Human | 144715 | Details Get a Quote |
