Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3358
Gene name	5-hydroxytryptamine receptor 2C
Gene symbol	HTR2C
Synonyms (NCBI Gene)	5-HT1C5-HT2C5-HTR2C5HTR2CHTR1C
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

Show/Hide all (2)

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

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005901	hsa-miR-22-3p	Luciferase reporter assayMicroarray	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

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001587	Function	Gq/11-coupled serotonin receptor activity	IDA	18703043, 29398112
GO:0001662	Process	Behavioral fear response	IEA
GO:0001662	Process	Behavioral fear response	ISS
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IBA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IDA	7582481, 12970106
GO:0004993	Function	G protein-coupled serotonin receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	14988405, 25770211, 28258217, 28514442, 30157263, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12970106, 18703043
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	18703043
GO:0005886	Component	Plasma membrane	TAS
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	19057895
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IBA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218, 37991948
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	12970106, 29398112
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IEA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	ISS
GO:0007210	Process	Serotonin receptor signaling pathway	IBA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	9241279
GO:0007626	Process	Locomotory behavior	IEA
GO:0007631	Process	Feeding behavior	IEA
GO:0007631	Process	Feeding behavior	ISS
GO:0007631	Process	Feeding behavior	TAS	7700379
GO:0010513	Process	Positive regulation of phosphatidylinositol biosynthetic process	IDA	19057895
GO:0016020	Component	Membrane	IEA
GO:0019934	Process	CGMP-mediated signaling	IDA	12970106
GO:0030425	Component	Dendrite	IBA
GO:0030594	Function	Neurotransmitter receptor activity	IBA
GO:0031644	Process	Regulation of nervous system process	IEA
GO:0031644	Process	Regulation of nervous system process	ISS
GO:0032098	Process	Regulation of appetite	IEA
GO:0032098	Process	Regulation of appetite	ISS
GO:0042802	Function	Identical protein binding	IPI	15518545, 16195233, 25770211, 28258217
GO:0043397	Process	Regulation of corticotropin-releasing hormone secretion	IEA
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:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	18703043
GO:0051378	Function	Serotonin binding	IDA	7582481, 12970106, 15831837, 18703043, 19057895
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
GO:0099589	Function	Serotonin receptor activity	IDA	29398112
GO:0099589	Function	Serotonin receptor activity	IEA

MIM	HGNC	e!Ensembl
312861	5295	ENSG00000147246

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

Tissue specificity

TISSUE SPECIFICITY: Detected in brain. {ECO:0000269|PubMed:8812491}.

Sequence

MVNLRNAVHSFLVHLIGLLVWQCDISVSPVAAIVTDIFNTSDGGRFKFPDGVQNWPALSI
VIIIIMTIGGNILVIMAVSMEKKLHNATNYFLMSLAIADMLVGLLVMPLSLLAILYDYVW
PLPRYLCPVWISLDVLFSTASIMHLCAISLDRYVAIRNPIEHSRFNSRTKAIMKIAIVWA
ISIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYV
LRRQALMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTM
QAINNERKASKVLGIVFFVFLIMWCPFFITNILSVLCEKSCNQKLMEKLLNVFVWIGYVC
SGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPRVAATALSGRELNVNIYRHTN
EPVIEKASDNEPGIEMQVENLELPVNPSSVVSERISSV

Sequence length

458

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Neuroactive ligand-receptor interaction Gap junction Serotonergic synapse Inflammatory mediator regulation of TRP channels		Serotonin receptors G alpha (q) signalling events

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
HTR2C POLYMORPHISM	Benign	rs6318	RCV000010563
HTR2C-related disorder	Uncertain significance; Benign; Likely benign	rs1039799135, rs200450984, rs6318, rs782209448, rs201434349, rs371347099, rs1448152418, rs782363497, rs201249233, rs1556487312, rs147162016, rs1232972236, rs200841726, rs1173878618, rs201244838 View all (16 more)	RCV004750848 RCV003946458 RCV003974817 RCV004750890 RCV003412074 RCV003417072 RCV003420880 RCV003412162 RCV003412229 RCV004750900 RCV003893892 RCV003894128 RCV003904222 RCV003904644 RCV003893829 RCV003921840 RCV003941921 RCV003937346 RCV003959721 RCV003919388 RCV003931527 RCV003936936 RCV003937114 RCV003937237 RCV003949443 RCV003907359 RCV003981945 RCV003983731 RCV003967231 RCV003913049 RCV003925794
Prostate cancer	Uncertain significance	rs193920954	RCV000149007
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs782541939	RCV005932457

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	22766135, 26303700
Asthma	Associate	37238670
Atherosclerosis	Associate	24386118
Autism Spectrum Disorder	Associate	21186965
Avoidant Restrictive Food Intake Disorder	Associate	35700837
Bipolar Disorder	Associate	20015120, 28174802
Cardiovascular Diseases	Associate	21967853, 24386118
Cognition Disorders	Associate	22766135, 29924134
Coronary Artery Disease	Associate	24386118
Death	Associate	24386118
Dementia	Associate	22766135
Depressive Disorder	Associate	21967853
Depressive Disorder Major	Associate	20015120
Diabetes Mellitus	Associate	28174802
Diabetes Mellitus Type 2	Associate	21967853, 28977211
Dyskinesia Drug Induced	Associate	23226551
Hyperprolactinemia	Associate	27654063, 31520576
Hypokinesia	Associate	18389501
Intellectual Disability	Associate	26933844
Mental Disorders	Associate	20015120, 25770211, 28492956, 29924134
Metabolic Syndrome	Associate	27681143, 28492956
Mood Disorders	Associate	29709878
Myocardial Infarction	Associate	24386118
Myotonic Dystrophy	Associate	28977211
Neoplasms	Associate	39481631
Obesity	Associate	16258205, 19690620, 23161547, 28977211
Obesity Abdominal	Associate	28492956
Obsessive Compulsive Disorder	Associate	31187473
Parkinson Disease Secondary	Associate	18389501
Personality Disorders	Associate	29924134
Premature Ejaculation	Associate	24799636
Psychomotor Agitation	Associate	26303700
Pulmonary Arterial Hypertension	Associate	28977211
Schizophrenia	Associate	18718676, 20015120, 29032150
Self Mutilation	Associate	26933844
Sudden Unexpected Death in Epilepsy	Associate	24372310
Ureteral Diseases	Associate	37059373
Weight Gain	Associate	18718676, 21186965
Weight Loss	Associate	30724455
Weight Loss	Stimulate	35700837

HTR2C (5-hydroxytryptamine receptor 2C)