HTR2C

Chr X

5-hydroxytryptamine receptor 2C

Also known as: 5-HT1C, 5-HT2C, 5-HTR2C, 5HTR2C, HTR1C

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]

ResearchGenerating clinical summary…
0
Active trials
34
Pubs (1 yr)
P/LP submissions
P/LP missense
0.87
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.037
Z-score 1.87
OE 0.38 (0.190.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.21Z-score
OE missense 0.76 (0.660.87)
147 obs / 194.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.190.87)
00.351.4
Missense OE?0.76 (0.660.87)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 4 / 10.6Missense obs/exp: 147 / 194.3Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HTR2C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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