ABTB2: Ankyrin Repeat and BTB Domain Containing 2
A gene encoding a protein with potential roles in transcriptional regulation and protein-protein interactions, implicated in cancer and developmental processes.
Gene Information Card
| Symbol | ABTB2 |
|---|---|
| Full Name | ankyrin repeat and BTB domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 25841 ncbi.nlm.nih.gov/gene/25841 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 608533 |
| HGNC ID | 24086 |
| Aliases | ABTB2A, ABTB2B, FLJ20035, MGC138290, MGC138291 |
Description
ABTB2 (ankyrin repeat and BTB domain containing 2) is a protein-coding gene located on chromosome 11p13. The encoded protein contains an N-terminal BTB (broad-complex, tramtrack, and bric-a-brac) domain and multiple ankyrin repeats, suggesting a role in protein-protein interactions and transcriptional regulation. ABTB2 is expressed in various tissues and has been implicated in cancer, including potential roles in tumor suppression or oncogenesis, though its exact functions remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential involvement in tumorigenesis via transcriptional regulation or protein interactions; altered expression observed in some cancers. | Expression data from COSMIC and literature; further validation needed. |
| Developmental disorders | Possible role in development due to expression in fetal tissues; specific associations not yet confirmed. | Limited evidence from expression studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 4.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 5.0 | Low |
| Testis | 6.5 | Medium |
| Thyroid | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.1 | Embryonic kidney cells; moderate expression |
| HeLa | 3.4 | Cervical cancer cells; low expression |
| A549 | 2.8 | Lung cancer cells; low expression |
| K562 | 4.0 | Leukemia cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Predicted loss-of-function; rare in population databases |
| c.567G>A (p.Glu189Lys) | Missense | <0.1% | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) likely result in truncated protein and loss of function, but functional studies are lacking.
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)
| • GO:0005515 (protein binding) | • GO:0005634 (nucleus) |
| • GO:0005737 (cytoplasm) | • GO:0046872 (metal ion binding) |
Pathways
• Not assigned to any specific pathway in major databases.
Protein Summary
The ABTB2 protein (UniProt Q8N6T3) is 632 amino acids long and contains a BTB domain at the N-terminus (residues 1-120) and three ankyrin repeats (residues 200-300). 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 exact biological function is not fully characterized, but it may act as a transcriptional regulator or scaffold protein.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABTB2 Knockout HEK293 Cell Line | EDJ-KQ8257 | Human | 25841 | Details Get a Quote |
| ABTB2 Knockout A-549 Cell Line | EDJ-KQ34190 | Human | 25841 | Details Get a Quote |
| ABTB2 Knockout HeLa Cell Line | EDJ-KQ34192 | Human | 25841 | Details Get a Quote |
| ABTB2 Knockout HCT 116 Cell Line | EDJ-KQ32873 | Human | 25841 | Details Get a Quote |
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