Gene Report

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)

GO terms by database search (count: 22)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

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

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 5)

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)

Gene relationship with MDD

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

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

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Region: chrX:114584078..114910061 View in gBrowse
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