ANKRD12

Chr 18

ankyrin repeat domain 12

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

NCBI Gene: 23253ENSG00000101745UniProt: Q6UB98

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.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
104
P/LP submissions
0%
P/LP missense
0.20
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— ANKRD12
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
99 unique Pathogenic / Likely Pathogenic· 254 VUS of 389 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.20LOEUF
pLI 1.000
Z-score 7.34
OE 0.11 (0.07–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.56Z-score
OE missense 0.95 (0.90–1.00)
928 obs / 977.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.11 (0.07–0.20)
0≤0.351.4
Missense OE0.95 (0.90–1.00)
0≤0.61.4
Synonymous OE1.18
0≤1.21.6
LoF obs/exp: 9 / 79.7Missense obs/exp: 928 / 977.0Syn Z: -2.64
DN
0.3097th %ile
GOF
0.1999th %ile
LOF
0.86top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.20

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

389 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic97
Likely Pathogenic2
VUS254
Likely Benign17
Benign1
97
Pathogenic
2
Likely Pathogenic
254
VUS
17
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
97
0
97
Likely Pathogenic
0
0
2
0
2
VUS
2
242
10
0
254
Likely Benign
0
15
1
1
17
Benign
0
1
0
0
1
Total22581101371

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ANKRD12 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients