HTR2C (5-hydroxytryptamine receptor 2C)

Gene

• Entrez ID: 3358
• Gene name: 5-hydroxytryptamine receptor 2C
• Gene symbol: HTR2C
• Synonyms: 5-HT1C, 5-HT2C, 5-HTR2C, 5HTR2C, HTR1C
• Chromosome: X
• Chromosome location: Xq23
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1414334	C>G	Drug-response, benign	Intron variant
rs3813929	C>G,T	Drug-response	Upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005901	hsa-miR-22-3p	Luciferase reporter assay, Microarray	21168126
MIRT1057223	hsa-miR-1324	CLIP-seq
MIRT1057224	hsa-miR-3120-3p	CLIP-seq
MIRT1057225	hsa-miR-323-3p	CLIP-seq
MIRT1057226	hsa-miR-3529	CLIP-seq
MIRT1057227	hsa-miR-3714	CLIP-seq
MIRT1057228	hsa-miR-379	CLIP-seq
MIRT1057229	hsa-miR-3927	CLIP-seq
MIRT1057230	hsa-miR-3942-3p	CLIP-seq
MIRT1057231	hsa-miR-3942-5p	CLIP-seq
MIRT1057232	hsa-miR-4699-3p	CLIP-seq
MIRT1057233	hsa-miR-4703-5p	CLIP-seq
MIRT1057234	hsa-miR-4708-3p	CLIP-seq
MIRT1057235	hsa-miR-4736	CLIP-seq
MIRT1057236	hsa-miR-4742-5p	CLIP-seq
MIRT1057237	hsa-miR-940	CLIP-seq
MIRT2013074	hsa-miR-1290	CLIP-seq
MIRT2013075	hsa-miR-4263	CLIP-seq
MIRT2013076	hsa-miR-450b-5p	CLIP-seq
MIRT2013077	hsa-miR-4719	CLIP-seq
MIRT2013078	hsa-miR-4802-3p	CLIP-seq
MIRT2013079	hsa-miR-513b	CLIP-seq
MIRT2013080	hsa-miR-555	CLIP-seq
MIRT2245370	hsa-miR-1252	CLIP-seq
MIRT1057223	hsa-miR-1324	CLIP-seq
MIRT1057224	hsa-miR-3120-3p	CLIP-seq
MIRT1057230	hsa-miR-3942-3p	CLIP-seq
MIRT1057231	hsa-miR-3942-5p	CLIP-seq
MIRT1057232	hsa-miR-4699-3p	CLIP-seq
MIRT1057233	hsa-miR-4703-5p	CLIP-seq
MIRT2451471	hsa-miR-4677-3p	CLIP-seq
MIRT2451472	hsa-miR-495	CLIP-seq
MIRT2451473	hsa-miR-610	CLIP-seq
MIRT2548615	hsa-miR-3130-3p	CLIP-seq
MIRT2548616	hsa-miR-3664-5p	CLIP-seq
MIRT2548617	hsa-miR-4714-5p	CLIP-seq
MIRT2548618	hsa-miR-4793-3p	CLIP-seq
MIRT2548619	hsa-miR-568	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001587	Function	Gq/11-coupled serotonin receptor activity	IDA	18703043
GO:0001662	Process	Behavioral fear response	ISS
GO:0004993	Function	G protein-coupled serotonin receptor activity	IBA	21873635
GO:0004993	Function	G protein-coupled serotonin receptor activity	IDA	7582481, 12970106
GO:0005515	Function	Protein binding	IPI	15518545, 23345234, 25770211, 28258217, 28514442, 30157263, 32296183
GO:0005886	Component	Plasma membrane	IDA	12970106, 18703043
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IMP	18703043
GO:0006874	Process	Cellular calcium ion homeostasis	IDA	19057895
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA	21873635
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	12970106
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	ISS
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007626	Process	Locomotory behavior	IEA
GO:0007631	Process	Feeding behavior	ISS
GO:0010513	Process	Positive regulation of phosphatidylinositol biosynthetic process	IDA	19057895
GO:0019934	Process	CGMP-mediated signaling	IDA	12970106
GO:0030425	Component	Dendrite	IBA	21873635
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0031644	Process	Regulation of nervous system process	ISS
GO:0032098	Process	Regulation of appetite	ISS
GO:0042493	Process	Response to drug	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	15518545, 16195233, 25770211, 28258217
GO:0043397	Process	Regulation of corticotropin-releasing hormone secretion	ISS
GO:0045202	Component	Synapse	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA	21873635
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	18703043
GO:0051378	Function	Serotonin binding	IDA	7582481, 12970106, 15831837, 18703043, 19057895
GO:0051482	Process	Positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	19057895
GO:0071886	Function	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding	IDA	19057895
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IDA	18703043
GO:0098666	Component	G protein-coupled serotonin receptor complex	IDA	12970106, 18703043

Other IDs

• MIM: 312861
• HGNC: 5295
• e!Ensembl: ENSG00000147246

Protein

• UniProt ID: P28335
• Protein name: 5-hydroxytryptamine receptor 2C (5-HT-2C) (5-HT2C) (5-HTR2C) (5-hydroxytryptamine receptor 1C) (5-HT-1C) (5-HT1C) (Serotonin receptor 2C)
• Protein function: G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:12970106, PubMed:18703043, PubMed:19057895, PubMed:29398112, PubMed:7895773). Also functions as a receptor for various drugs and psychoactive substances, including ergot alka
• PDB: 6BQG, 6BQH, 8DPF, 8DPG, 8DPH, 8DPI, 8ZMF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	70 → 368	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MVNLRNAVHSFLVHLIGLLVWQCDISVSPVAAIVTDIFNTSDGGRFKFPDGVQNWPALSI
  VIIIIMTIGGNILVIMAVSMEKKLHNATNYFLMSLAIADMLVGLLVMPLSLLAILYDYVW
  PLPRYLCPVWISLDVLFSTASIMHLCAISLDRYVAIRNPIEHSRFNSRTKAIMKIAIVWA
  ISIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYV
  LRRQALMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTM
  QAINNERKASKVLGIVFFVFLIMWCPFFITNILSVLCEKSCNQKLMEKLLNVFVWIGYVC
  SGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPRVAATALSGRELNVNIYRHTN
  EPVIEKASDNEPGIEMQVENLELPVNPSSVVSERISSV

• Sequence length: 458

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction
Gap junction
Serotonergic synapse
Inflammatory mediator regulation of TRP channels

Reactome:

Serotonin receptors
G alpha (q) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	19142101, 18515891, 17632216
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	17702092, 19142110
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	20195292, 22967772, 21185157, 22404657

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		20015120, 20494452, 22404657, 19411841, 18504633
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	23719026, 24770757, 23049953, 20624407, 23583320, 24770757, 20624407, 23719026, 23583320, 23049953, 24781207, 22404657, 23765961, 20015120, 20065966, 24781207, 23765961, 20015120, 20065966, 22404657
Mood disorder	Mood Disorders		19614978, 22764241, 19775499, 25596490, 18715570
Seasonal affective disorder	Seasonal Affective Disorder		11300730, 16157158