NKD2

Chr 5

NKD inhibitor of Wnt signaling pathway 2

Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity (By similarity). Required for processing of TGFA and for targeting of TGFA to the basolateral membrane of polarized epithelial cells

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 1.51
Clinical SummaryNKD2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.51LOEUF
pLI 0.000
Z-score -0.07
OE 1.02 (0.701.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.10Z-score
OE missense 1.02 (0.921.12)
277 obs / 272.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.02 (0.701.51)
00.351.4
Missense OE?1.02 (0.921.12)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 18 / 17.7Missense obs/exp: 277 / 272.4Syn Z: 0.39

This gene — mechanism propensity

DN
0.5476th %ile
GOF
0.5268th %ile
LOF
0.66top 25%

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

LOFprediction above median

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NKD2 · 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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