AGTRAP

Chr 1

angiotensin II receptor associated protein

Also known as: ATRAP

NCBI Gene: 57085 ENSG00000177674 UniProt: Q6RW13 OMIM: 608729

The protein encoded by this gene is a transmembrane protein that negatively regulates angiotensin II type I receptor signaling by controlling receptor internalization and desensitization. Mutations in AGTRAP cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delay. The gene shows relatively low constraint to loss-of-function variants, which is consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.95

LOEUF

Multiple*

Mechanism· predicted