GPRC5B Chromosome 16
G protein-coupled receptor class C group 5 member B
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What This Gene Does
This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
G protein-coupled receptors, Class C orphans
Locus Type
gene with protein product
Location
16p12.3
Ensembl
ENSG00000167191
Associated Conditions (1)
Megalencephalic leukoencephalopathy with subcortical cysts 3
Key Variants
RS2506973246
Pathogenic
Megalencephalic leukoencephalopathy with subcortical cysts 3, Megalencephalic leukoencephalopathy with subcortical cysts 3
Health Risk
RS2506973258
Pathogenic
Megalencephalic leukoencephalopathy with subcortical cysts 3, Megalencephalic leukoencephalopathy with subcortical cysts 3
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2506973246 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 3, Megalencephalic leukoencephalopathy with subcortical cysts 3 |
| RS2506973258 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 3, Megalencephalic leukoencephalopathy with subcortical cysts 3 |