GPRASP2

Chr XXLR

G protein-coupled receptor associated sorting protein 2

Also known as: DFNX7, GASP2

NCBI Gene: 114928 ENSG00000158301 UniProt: Q96D09 OMIM: 300969

The protein regulates the activity of G protein-coupled receptors, including the M1 muscarinic acetylcholine receptor and calcitonin receptor. Mutations cause X-linked deafness type 7, though the association remains tentative. This follows X-linked recessive inheritance with affected males and carrier females.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Deafness, X-linked 7MIM #301018

XLR

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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted