ARID4A Gene
AT-Rich Interaction Domain 4A
Gene Information Card
| Symbol | ARID4A |
|---|---|
| Full Name | AT-Rich Interaction Domain 4A |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.1 |
| NCBI Gene ID | 5926 ncbi.nlm.nih.gov/gene/5926 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | P29374 |
| OMIM ID | 180201 |
| HGNC ID | 988 |
| Aliases | RBBP1, RBP1, ARID4A |
Description
ARID4A (AT-Rich Interaction Domain 4A) encodes a protein that contains an AT-rich DNA interaction domain and is involved in chromatin remodeling and transcriptional regulation. It interacts with retinoblastoma protein (RB1) and histone deacetylases, playing a role in cell cycle control and differentiation. The gene is located on chromosome 14q23.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ARID4A loss may contribute to tumor progression through altered chromatin regulation and RB1 pathway disruption. | ClinVar, COSMIC |
| Prostate cancer | Reduced ARID4A expression is associated with aggressive disease and poor prognosis via epigenetic silencing. | NCBI Gene, PubMed |
| Intellectual disability | De novo missense variants in ARID4A have been reported in patients with neurodevelopmental phenotypes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical carcinoma cells |
| MCF7 | 6.8 | Breast cancer cells |
| HepG2 | 5.9 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; premature stop codon |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing chromatin remodeling and RB1 interaction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • chromatin binding |
| • histone deacetylase binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • cell cycle |
Pathways
• RB1 pathway
• Chromatin remodeling
• Transcriptional regulation by histone deacetylases
Protein Summary
ARID4A is a 1258-amino acid protein containing an AT-rich interaction domain (ARID) and a Tudor-knot domain. It functions as a transcriptional repressor by recruiting histone deacetylase complexes to target promoters. The protein interacts with RB1 and is implicated in cell cycle regulation, differentiation, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID4A Knockout HEK293 Cell Line | EDJ-KQ5637 | Human | 5926 | Details Get a Quote |
| ARID4A Knockout A-549 Cell Line | EDJ-KQ28966 | Human | 5926 | Details Get a Quote |
| ARID4A Knockout HCT 116 Cell Line | EDJ-KQ28967 | Human | 5926 | Details Get a Quote |
| ARID4A Knockout HeLa Cell Line | EDJ-KQ28968 | Human | 5926 | Details Get a Quote |
