HTR2C (5-hydroxytryptamine receptor 2C)

2016-01-01 Affiliation

Identity

HGNC

HTR2C

LOCATION

Xq23

LOCUSID

3358

ALIAS

5-HT1C,5-HT2C,5-HTR2C,5HTR2C,HTR1C

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3358
MIM: 312861
HGNC: 5295
Ensembl: ENSG00000147246

Variants:

dbSNP: 3358
ClinVar: 3358
TCGA: ENSG00000147246
COSMIC: HTR2C

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000147246	ENST00000276198	P28335
ENSG00000147246	ENST00000371950	P28335
ENSG00000147246	ENST00000371951	P28335

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Calcium signaling pathway	KEGG	ko04020
Neuroactive ligand-receptor interaction	KEGG	ko04080
Gap junction	KEGG	ko04540
Calcium signaling pathway	KEGG	hsa04020
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Gap junction	KEGG	hsa04540
Serotonergic synapse	KEGG	hsa04726
Inflammatory mediator regulation of TRP channels	KEGG	hsa04750
Inflammatory mediator regulation of TRP channels	KEGG	ko04750
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class A/1 (Rhodopsin-like receptors)	REACTOME	R-HSA-373076
Amine ligand-binding receptors	REACTOME	R-HSA-375280
Serotonin receptors	REACTOME	R-HSA-390666
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (q) signalling events	REACTOME	R-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA10074	escitalopram	Chemical	ClinicalAnnotation	associated	PD	21614492
PA128406954	Weight gain	Disease	ClinicalAnnotation, MultilinkAnnotation, VariantAnnotation	associated	PD	17016522, 17632216, 17702092, 19193342, 19434072, 19997080, 20504252, 21121776, 22967772, 24279860, 26880915, 27217270
PA162263525	neuropathic pain	Disease	ClinicalAnnotation	associated	PD	21614492
PA162370415	Metabolic Syndrome	Disease	ClinicalAnnotation	associated	PD	17632216, 19142101, 20680028, 25152019
PA162565877	amisulpride	Chemical	VariantAnnotation	associated	PD	20504252
PA166123368	schizoaffective disorder	Disease	VariantAnnotation	associated	PD	20504252
PA174	GNAQ	Gene	Pathway	associated		19741567
PA447208	Mental Disorders	Disease	ClinicalAnnotation	associated	PD	15635667, 15666332, 16633140, 17016522, 17702092, 18718676, 19193342, 19434072, 19636338, 20504252, 21121776, 21510767, 22967772, 25152019
PA447216	Schizophrenia	Disease	ClinicalAnnotation, VariantAnnotation	associated	PD	17016522, 17632216, 17702092, 19142101, 19193342, 19434072, 19997080, 20504252, 20680028, 21121776, 22967772, 25152019, 26880915, 27217270
PA449061	clozapine	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	17016522, 17632216, 19142101, 19434072, 20504252, 20680028, 21121776, 22967772, 25152019
PA449841	haloperidol	Chemical	MultilinkAnnotation	associated		27023437
PA450688	olanzapine	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	17016522, 17632216, 17702092, 19142101, 19193342, 19434072, 19997080, 20504252, 20680028, 21121776, 22967772, 25152019, 26880915, 27217270
PA451201	quetiapine	Chemical	VariantAnnotation	associated	PD	20504252
PA451257	risperidone	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	17632216, 17702092, 19142101, 19193342, 19997080, 20504252, 20680028, 22967772, 25152019, 26880915, 27217270
PA452233	antipsychotics	Chemical	ClinicalAnnotation, Literature, MultilinkAnnotation	associated	PD	15635667, 15666332, 16633140, 17016522, 17632216, 17702092, 18718676, 19142101, 19193342, 19434072, 19636338, 19997080, 20504252, 20680028, 21121776, 21510767, 22967772, 24885933, 25152019, 26880915, 27217270

References

Pubmed ID	Year	Title	Citations
15241435	2004	Gene-environment interaction analysis of serotonin system markers with adolescent depression.	151
11988167	2002	Altered editing of serotonin 2C receptor pre-mRNA in the prefrontal cortex of depressed suicide victims.	117
19874574	2009	Genetical genomic determinants of alcohol consumption in rats and humans.	93
20351714	2011	Poor replication of candidate genes for major depressive disorder using genome-wide association data.	92
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12767050	2003	Functional activity of serotoninergic and melatoninergic systems expressed in the skin.	61
15864111	2005	Polymorphisms of the 5-HT2C receptor and leptin genes are associated with antipsychotic drug-induced weight gain in Caucasian subjects with a first-episode psychosis.	55
20394819	2010	Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome.	55
15717291	2005	Support for association between ADHD and two candidate genes: NET1 and DRD1.	53
14602721	2004	RNA editing induces variation in desensitization and trafficking of 5-hydroxytryptamine 2c receptor isoforms.	52

Citation

Dessen P

HTR2C (5-hydroxytryptamine receptor 2C)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55615/htr2c