ATAD2B
ATPase Family AAA Domain Containing 2B
Gene Information Card
| Symbol | ATAD2B |
|---|---|
| Full Name | ATPase Family AAA Domain Containing 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.1 |
| NCBI Gene ID | 54454 ncbi.nlm.nih.gov/gene/54454 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9Y2K2 |
| OMIM ID | 615172 |
| HGNC ID | 28907 |
| Aliases | KIAA1240, MGC131851 |
Description
ATAD2B (ATPase Family AAA Domain Containing 2B) is a protein-coding gene that encodes a member of the AAA+ ATPase family. The protein contains an AAA domain and a bromodomain, suggesting a role in chromatin remodeling and transcriptional regulation. ATAD2B is involved in cellular processes such as cell cycle progression and DNA replication. It is closely related to ATAD2 and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote cell proliferation and invasion | COSMIC, NCBI Gene |
| Lung cancer | Amplification and overexpression observed | COSMIC, NCBI Gene |
| Prostate cancer | Potential role in tumorigenesis via chromatin remodeling | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 6.8 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 12.3 | Moderate expression |
| A549 | 10.1 | Low expression |
| MCF7 | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G | Missense | 0.02% | Unknown significance |
| c.567C>T | Nonsense | 0.01% | Likely loss of function |
| c.890_891insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in truncated or absent protein, leading to loss of ATPase and bromodomain functions.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • DNA helicase activity |
| • chromatin binding | • nucleus |
| • ATP-dependent chromatin remodeling | • cell cycle |
Pathways
• Chromatin remodeling
• Cell cycle
Protein Summary
ATAD2B is a 1390-amino acid protein containing an N-terminal AAA+ ATPase domain and a C-terminal bromodomain. It localizes to the nucleus and is involved in ATP-dependent chromatin remodeling, influencing gene expression and cell cycle progression. The protein shares high similarity with ATAD2 and may function in similar pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATAD2B Knockout HEK293 Cell Line | EDJ-KQ11419 | Human | 54454 | Details Get a Quote |
| ATAD2B Knockout HeLa Cell Line | EDJ-KQ38329 | Human | 54454 | Details Get a Quote |
| ATAD2B Knockout A-549 Cell Line | EDJ-KQ39657 | Human | 54454 | Details Get a Quote |
| ATAD2B Knockout HCT 116 Cell Line | EDJ-KQ39658 | Human | 54454 | Details Get a Quote |
