ARID3B
AT-Rich Interaction Domain 3B
Gene Information Card
| Symbol | ARID3B |
|---|---|
| Full Name | AT-Rich Interaction Domain 3B |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 10620 ncbi.nlm.nih.gov/gene/10620 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | Q8IVW4 |
| OMIM ID | 605434 |
| HGNC ID | 14350 |
| Aliases | BDP, DRIL2, FLJ20309, MGC111024 |
Description
ARID3B (AT-Rich Interaction Domain 3B) encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The protein is a transcription factor involved in cell growth, differentiation, and development. It plays roles in hematopoiesis, immune system regulation, and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell proliferation and invasion | PMID: 23431131 |
| Ovarian cancer | Amplification and overexpression linked to poor prognosis | PMID: 21502544 |
| Acute myeloid leukemia | Dysregulation of ARID3B expression contributes to leukemogenesis | PMID: 19608745 |
| Neuroblastoma | High expression associated with aggressive tumor behavior | PMID: 22071889 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Spleen | 6.7 | Low |
| Testis | 4.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 9.8 | Moderate expression |
| A549 (lung cancer) | 5.4 | Low expression |
| MCF7 (breast cancer) | 18.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% (COSMIC) | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | 0.01% (COSMIC) | Unknown functional impact |
| Amplification | Copy number gain | 5-10% in ovarian cancer | Increased expression |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Amplification and overexpression in cancers suggest potential gain-of-function role.
Dominant Negative (DN)
Not described for ARID3B.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • chromatin binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • cell differentiation |
| • hematopoiesis |
Pathways
• Notch signaling pathway
• Transcriptional misregulation in cancer
Protein Summary
ARID3B is a 593-amino acid protein containing an AT-rich interaction domain (ARID) and a REKLES domain. It functions as a transcription factor that binds DNA and regulates gene expression. The protein is involved in B-cell development, hematopoiesis, and immune responses. Its overexpression is observed in several cancers, suggesting an oncogenic role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID3B Knockout HEK293 Cell Line | EDJ-KQ50993 | Human | 10620 | Details Get a Quote |
| ARID3B Knockout HeLa Cell Line | EDJ-KQ55444 | Human | 10620 | Details Get a Quote |
| ARID3B Knockout A-549 Cell Line | EDJ-KQ63925 | Human | 10620 | Details Get a Quote |
| ARID3B Knockout HCT 116 Cell Line | EDJ-KQ72382 | Human | 10620 | Details Get a Quote |
