ARID4B
AT-Rich Interaction Domain 4B
Gene Information Card
| Symbol | ARID4B |
|---|---|
| Full Name | AT-Rich Interaction Domain 4B |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 51742 ncbi.nlm.nih.gov/gene/51742 |
| Ensembl ID | ENSG00000134247 |
| UniProt ID | Q4LE39 |
| OMIM ID | 609696 |
| HGNC ID | 15550 |
| Aliases | BCAA, RBBP1L1, SAP180, p180 |
Description
ARID4B (AT-Rich Interaction Domain 4B) encodes a protein that belongs to the ARID (AT-rich interaction domain) family of DNA-binding proteins. It functions as a transcriptional regulator and is a component of histone deacetylase-dependent complexes involved in chromatin remodeling. ARID4B plays roles in cell cycle progression, differentiation, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression and potential tumor suppressor role | PMID: 21343303 |
| Prostate cancer | Loss of expression associated with progression | PMID: 19029980 |
| Leukemia | Involvement in MLL-rearranged leukemia | PMID: 23300459 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Prostate | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney |
| HeLa | 9.5 | Cervical carcinoma |
| MCF7 | 7.2 | Breast cancer |
| LNCaP | 6.8 | Prostate cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Pro412Ser; uncertain significance |
| c.567delA | Frameshift | 0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially contributing to tumorigenesis.
Gain of Function (GOF)
No recurrent gain-of-function mutations have been reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • Chromatin binding |
| • Transcription coregulator activity | • Nucleus |
| • Regulation of transcription by RNA polymerase II |
Pathways
• Chromatin remodeling
• HDAC complex pathway
Protein Summary
ARID4B is a 1317-amino acid protein containing an AT-rich interaction domain (ARID) and a Tudor-like domain. It interacts with retinoblastoma protein (RB) and histone deacetylases (HDACs) to repress transcription. The protein is involved in cell cycle control and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID4B Knockout HEK293 Cell Line | EDJ-KQ11208 | Human | 51742 | Details Get a Quote |
| ARID4B Knockout A-549 Cell Line | EDJ-KQ39273 | Human | 51742 | Details Get a Quote |
| ARID4B Knockout HCT 116 Cell Line | EDJ-KQ39274 | Human | 51742 | Details Get a Quote |
| ARID4B Knockout HeLa Cell Line | EDJ-KQ39275 | Human | 51742 | Details Get a Quote |
