IRX4

Chr 5

iroquois homeobox 4

Also known as: IRXA3

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 development; neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within heart development. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADLimitednot for standalone diagnostic reporting
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.73
LOEUF
DN
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?
0.73LOEUF
pLI 0.012
Z-score 2.34
OE 0.37 (0.200.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.20Z-score
OE missense 1.03 (0.941.14)
295 obs / 285.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.37 (0.200.73)
00.351.4
Missense OE?1.03 (0.941.14)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 6 / 16.1Missense obs/exp: 295 / 285.4Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IRX4 · 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.

Search ClinicalTrials.gov →