HTR2C Chromosome X
5-hydroxytryptamine receptor 2C
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What This Gene Does
This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"5-hydroxytryptamine receptors, G protein-coupled|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000147246
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2071382702 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |