ABTB3: Ankyrin Repeat and BTB Domain Containing 3
A gene encoding a protein with ankyrin repeats and a BTB/POZ domain, involved in protein-protein interactions and transcriptional regulation.
Gene Information Card
| Symbol | ABTB3 |
|---|---|
| Full Name | ankyrin repeat and BTB domain containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q31.1 |
| NCBI Gene ID | 152789 ncbi.nlm.nih.gov/gene/152789 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q8N6T3 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:24086 |
| Aliases | MGC13170, FLJ22662 |
Description
ABTB3 (ankyrin repeat and BTB domain containing 3) is a protein-coding gene located on chromosome 1q31.1. The encoded protein contains an N-terminal BTB/POZ domain and multiple ankyrin repeats, suggesting a role in protein-protein interactions and transcriptional regulation. Expression data indicate broad tissue distribution with highest levels in the brain and testis. The function of ABTB3 is not fully characterized, but it may be involved in developmental processes and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 6.8 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.9 | Embryonic kidney cells |
| HeLa | 6.2 | Cervical cancer cells |
| K562 | 4.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations
Gain of Function (GOF)
No documented gain-of-function mutations
Dominant Negative (DN)
No documented dominant-negative mutations
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm |
Pathways
• No curated pathways
Protein Summary
The ABTB3 protein (UniProt Q8N6T3) is 532 amino acids long and contains a BTB/POZ domain at the N-terminus followed by three ankyrin repeats. The BTB domain is involved in transcriptional regulation and protein dimerization, while ankyrin repeats mediate protein-protein interactions. The protein is predicted to localize to the nucleus and cytoplasm. Its precise biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABTB3 Knockout HEK293 Cell Line | EDJ-KQ12254 | Human | 121551 | Details Get a Quote |
| ABTB3 Knockout A-549 Cell Line | EDJ-KQ41039 | Human | 121551 | Details Get a Quote |
| ABTB3 Knockout HCT 116 Cell Line | EDJ-KQ41040 | Human | 121551 | Details Get a Quote |
| ABTB3 Knockout HeLa Cell Line | EDJ-KQ77908 | Human | 121551 | Details Get a Quote |
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