Traits

Traits linked to ATP2B1

ATPase plasma membrane Ca2+ transporting 1

The Human Phenotype Ontology links 20 traits to ATP2B1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Infantile spasms	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Cerebral cavernous malformation	Sometimes (5–29%)
Secundum atrial septal defect	Sometimes (5–29%)
Transposition of the great arteries	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)
Toe curvature	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Asymmetry of the posterior head	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Sometimes (5–29%)

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 ATP2B1 and how often each is seen. Find out more at hpo.jax.org.

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