ABTB2

Chr 11

ankyrin repeat and BTB domain containing 2

Also known as: ABTB2A, BTBD22, CCA3

NCBI Gene: 25841 ENSG00000166016 UniProt: Q8N961

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.

ResearchSummary from RefSeq, UniProt

Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429