NKX2-4

Chr 20

NK2 homeobox 4

Also known as: NKX2.4, NKX2D

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.54
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.54LOEUF
pLI 0.004
Z-score 0.67
OE 0.70 (0.341.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.08Z-score
OE missense 1.02 (0.881.19)
115 obs / 112.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.341.54)
00.351.4
Missense OE?1.02 (0.881.19)
00.61.4
Synonymous OE?1.26
01.21.6
LoF obs/exp: 4 / 5.7Missense obs/exp: 115 / 112.6Syn Z: -1.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NKX2-4 · 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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