ABTB2
Chr 11ankyrin repeat and BTB domain containing 2
Also known as: ABTB2A, BTBD22, CCA3
ABTB2 encodes a protein that enables protein heterodimerization and may be involved in hepatocyte growth initiation. The gene is highly constrained against loss-of-function variation (LOEUF 0.464), suggesting mutations would likely cause severe developmental phenotypes. However, no specific disease associations or inheritance patterns have been established for ABTB2 mutations in humans.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
221 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 19 | 0 | 19 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 167 | 8 | 0 | 175 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 169 | 27 | 0 | 196 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ABTB2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools