DACT2

Chr 6

dishevelled binding antagonist of beta catenin 2

Involved in regulation of intracellular signaling pathways during development. Negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors, such as TGFBR1. May be involved in control of the morphogenetic behavior of kidney ureteric bud cells by keeping cells epithelial and restraining their mesenchymal character. May play an inhibitory role in the re-epithelialization of skin wounds by attenuating TGF-beta signaling (By similarity)

OMIMResearchGenerating clinical summary…
DNmechanismLOEUF 1.26
Clinical SummaryDACT2
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.26LOEUF
pLI 0.009
Z-score 1.11
OE 0.55 (0.271.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.40Z-score
OE missense 0.81 (0.740.88)
340 obs / 420.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.271.26)
00.351.4
Missense OE?0.81 (0.740.88)
00.61.4
Synonymous OE?0.80
01.21.6
LoF obs/exp: 4 / 7.2Missense obs/exp: 340 / 420.9Syn Z: 2.25

This gene — mechanism propensity

DN
0.6649th %ile
GOF
0.5954th %ile
LOF
0.4726th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DACT2 · 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

No active trials found for this gene.

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