Traits

Traits linked to TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

The Human Phenotype Ontology links 11 traits to TAB2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic regurgitation	Always
Aortic valve has two leaflets rather than three	Often (30–79%)
Bulge in wall of large artery that carries blood away from heart	Often (30–79%)
Cardiac failure	Often (30–79%)
Left ventricular outflow tract obstruction	Often (30–79%)
Narrowing of blood vessel below aortic heart valve	Often (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Not recorded
Myxomatous mitral valve degeneration	Not recorded
Narrowing of aortic valve	Not recorded
Tetralogy of Fallot	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TAB2 and how often each is seen. Find out more at hpo.jax.org.

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