GPRASP2 Chromosome X
G protein-coupled receptor associated sorting protein 2
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What This Gene Does
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]
Gene Info
Gene Group
Armadillo repeat containing
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000158301
Associated Conditions (2)
GPRASP2-related disorder
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Key Variants
RS148692824
Conflicting classifications of pathogenicity
GPRASP2-related disorder, GPRASP2-related disorder
Health Risk
RS2521622160
Likely pathogenic
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Health Risk
RS1569491884
Pathogenic
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148692824 | Health Risk | Conflicting classifications of pathogenicity | GPRASP2-related disorder, GPRASP2-related disorder |
| RS2521622160 | Health Risk | Likely pathogenic | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
| RS1569491884 | Health Risk | Pathogenic | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |