ANKRD12

Chr 18

ankyrin repeat domain 12

Also known as: ANCO-2, ANCO1, GAC-1, Nbla00144

NCBI Gene: 23253 ENSG00000101745 UniProt: Q6UB98 OMIM: 610616

This gene encodes a transcriptional corepressor that recruits histone deacetylases to inhibit nuclear receptor-mediated gene transcription. The gene is extremely intolerant to loss-of-function variation (pLI ~1.0, LOEUF 0.20), but specific disease associations and inheritance patterns have not yet been established in the provided data.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

OMIM 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

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted