Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	HTR2C
Previous Symbol	HTR1C
Symbol Alias	5-HT2C, 5HTR2C
Approved Name	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
Previous Name	5-hydroxytryptamine (serotonin) receptor 2C
Location	Xq23
Position	chrX:114584078-114910061, 1
External Links	HGNC: 5295 Entrez Gene: 3358 Ensembl: ENSG00000147246 UCSC: uc004epu.1
No. of Studies	7 (Positive: 4; Negative: 3; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 7)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Massat, I., 2007	Other variant: HTR2C_Cys23Ser	The Ser23 allele may be involved as a specific susceptibility gene in EO-BP phenotype or act as a modifier factor, contributing to influence AAO of the BP phenotype.	Positive	Comment on Study
Oruc, L., 1997 (b)	Other variant: 5-HTR2C_RFLP	These results suggest that variations in these genes may be responsible for a minor increase in susceptibility for bipolar disorder in women.	Negative	Comment on Study
Gutierrez, B.,2001	Haplotype: [HTR2C_GT(12-18)/CT(4-5)] - (HTR2C_Cys23Ser)() Other variant: HTR2C_GT(12-18)/CT(4-5)	In summary, although the present results make it unlikelythat the 5-HT2C receptor gene plays an important role in bipolar disorder.	Negative	Comment on Study
Vincent, J. B.,1999(a)	Other variant: HTR2C_HinfI Polymorphism	Statistically significant positive associations were found in original Study.	Positive	Comment on Study
Mazza, M.,2010	Haplotype: rs6318 - rs2428707 - rs4272555(C-C-C), rs6318 - rs2428707 - rs4272555(C-C-T), rs6318 - rs2428707 - rs4272555(C-T-C), rs6318 - rs2428707 - rs4272555(C-T-T), rs6318 - rs2428707 - rs4272555(G-C-C), rs6318 - rs2428707 - rs4272555(G-C-T), rs6318 - rs2428707 - rs4272555(G-T-C)	In conclusion, our study confirms the involvement of the 5HTR2C gene in BD.	Positive	Comment on Study
Mohammadi, S., 2015	Other variant: 5-HT2C_Cys/Ser	We found the lack of an association between 5-HT2C Cys/Ser variants and the risk of BID.	Negative	Comment on Study
Lerer, B.,2001	Other variant: HTR2C_Cys23Ser	In conclusion, we have found that both major depression and bipolar disorder are associated with HT2CR ser23 allele carrier status and that this effect is demonstrable over and above considerable inter-population variability in the frequency of this allele.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 25)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[12970106]; TAS	360
GO:0005887	integral component of plasma membrane	cellular component	IMP[18703043]	158
GO:0007268	synaptic transmission	biological process	TAS[9241279]	116

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031644	regulation of neurological system process	biological process	ISS	1
GO:0004993	serotonin receptor activity	molecular function	IDA[7582481]	12
GO:0007208	phospholipase C-activating serotonin receptor signaling pathway	biological process	ISS	2
GO:0007210	serotonin receptor signaling pathway	biological process	IMP[18703043]	12
GO:0032098	regulation of appetite	biological process	ISS	2
GO:0070374	positive regulation of ERK1 and ERK2 cascade	biological process	IDA[19057895]	14
GO:0006874	cellular calcium ion homeostasis	biological process	IDA[19057895]	16
GO:0001662	behavioral fear response	biological process	ISS	16
GO:0001587	Gq/11-coupled serotonin receptor activity	molecular function	IDA[18703043]	1
GO:0042493	response to drug	biological process	IDA[18703043]	57
GO:0007631	feeding behavior	biological process	ISS	12
GO:0045600	positive regulation of fat cell differentiation	biological process	IEA	9
GO:0008144	drug binding	molecular function	IDA[12970106]	21
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	biological process	IDA[12970106]	11
GO:0006182	cGMP biosynthetic process	biological process	IDA[12970106]	2
GO:0043397	regulation of corticotropin-releasing hormone secretion	biological process	ISS	1
GO:0051378	serotonin binding	molecular function	IDA[15831837]	6
GO:0071886	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding	molecular function	IDA[19057895]	2
GO:0010513	positive regulation of phosphatidylinositol biosynthetic process	biological process	IDA[19057895]	2
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0051209	release of sequestered calcium ion into cytosol	biological process	IMP[18703043]	7
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway	biological process	ISS	6

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04540	Gap junction	15
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
tubbyPathway	G-Protein Signaling Through Tubby Proteins	2

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HTR2C	GNAQ	NO	in vivo	11916537
HTR2C	DLG4	NO	in vivo	12006486
HTR2C	LIN7C	YES	in vivo	12006486
HTR2C	CALM1	NO	in vivo	18768750
HTR2C	APBA1	NO	in vivo	12006486
HTR2C	MPDZ	NO	in vitro;in vivo;yeast 2-hybrid	11150294 , 9537516

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 5)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
HTR2C_GT(12-18)/CT(4-5)	microsatellite	1 (0/1/0)
HTR2C_HinfI Polymorphism	SNP	1 (1/0/0)
5-HT2C_Cys/Ser	point mutation	1 (0/1/0)
HTR2C_Cys23Ser	point mutation	3 (3/0/0)
5-HTR2C_RFLP	SNP	1 (0/1/0)

Gene related regions (count: 0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 7)

Reference	ID in SZGene	Result Category
9285964	41	Negative
12532038	41	Negative
11353441	41	Negative
15717293	41	Negative
15167695	41	Negative
8742444	41	Negative
11140333	41	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
11526472	In conclusion, we have found that both major depression and bipolar disorder are associated with HT2CR ser23 allele carrier status and that this effect is demonstrable over and above considerable inter-population variability in the frequency of this allele.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 3)

Reference	Description	Category in MDD	Link in MK4MDD
20065966	The T allele of the -759C/T SNP in HTR2C showed borderline significant associations with and increased risk of lifetime major depressive disorder (MDD) (Odds ratio (OR): 1.13 (95% CI: 1.01-1.22), P=0.02).	Pos	HTR2C
15927089	SNPs in CCKAR, DRD1, DRD2, and HTR2C genes showed nominally significant associations with MDD.	Pos	HTR2C

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Region: chrX:114584078..114910061 View in gBrowse