Gene Report

Basic Info
Approved Symbol TPH2
Symbol Alias NTPH, FLJ37295
Approved Name tryptophan hydroxylase 2
Location 12q15
Position chr12:71938846-72186618, 1
External Links HGNC: 20692
Entrez Gene: 121278
Ensembl: ENSG00000139287
UCSC: uc009zrw.1
No. of Studies 13 (Positive: 10; Negative: 3; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 13)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Lin, Y. M., 2007 SNP: rs11178997, rs11178998, rs11179003, rs17110747, rs4570625
Haplotype: TPH1_-346G - rs4570625 - rs11178997 - rs11178998(G, T-A-G), TPH1_-346T - rs4570625 - rs11178997 - rs11178998(T, T-A-G), TPH1_G-346T - rs4570625 - rs11178997 - rs11178998(G/T, T-A-G), TPH1_G-346T - rs4570625 - rs11178997 - rs11178998(G/T, non T-A-G), rs4570625 - rs11178997 - rs11178998(T-T-A), rs4570625 - rs11178997 - rs11178998(G-T-A), rs4570625 - rs11178997 - rs11178998(T-A-G), rs4570625 - rs11178997 - rs11178998(T-A-A), rs4570625 - rs11178997 - rs11178998(G-T-G), rs4570625 - rs11178997 - rs11178998(Others)
Other variant: TPH2_C2755A
A significant difference in allele distribution was obtained for SNP C2755A; the effect of TPH2 on BPD etiology can be influenced by the presence of TPH1. Positive Comment on Study
Lopez, V. A., 2007 SNP: rs1007023, rs11178997, rs1386494, rs9325202
Haplotype: rs1386494 - rs1007023 - rs9325202(G-T-G), rs1386494 - rs1007023 - rs9325202(G-T-A), rs1386494 - rs1007023 - rs9325202(A-G-A)
The TPH2 might contribute to the risk of both BPAD and SA in families with BPAD. Positive Comment on Study
Yosifova, A.,2009 SNP: rs1007023, rs1386494, rs4131348, rs4290270, rs7305115, rs9325202 Significant association of SNP in this gene with BD in our population was observed. Positive Comment on Study
Harvey, M., 2007 SNP: rs4290270
Haplotype: rs1007023 - rs4290270(T-T), rs7305115 - rs1007023 - rs4290270(G-T-T), rs7305115 - rs1007023 - rs4290270(A-G-A), rs7305115 - rs1007023 - rs4290270(A-T-T), rs7305115 - rs1007023 - rs4290270(A-T-A), rs7305115 - rs1007023 - rs4290270(G-T-A), rs7305115 - rs1007023 - rs4290270(A-G-T)
A susceptibility locus in tryptophan hydroxylase 2 showed statistically significant associations with bipolar disorder Positive Comment on Study
Choi, K. Y., 2010 Other variant: TPH2_promoter_703G/T There was no association of variant in this gene with bipolar disorder. Negative Comment on Study
Roche, S.,2009 SNP: rs1007023, rs10506645, rs1352250, rs1386482, rs1386486, rs1386491, rs1386493, rs1487275, rs1843809, rs2129575, rs2171363, rs6582078, rs9325202
Haplotype: rs1352250 - rs9325202(A-A), rs1352250 - rs9325202(A-G), rs1352250 - rs9325202(G-G), rs1487275 - rs1386486 - rs1386482(G-T-A), rs1487275 - rs1386486 - rs1386482(T-C-C), rs1487275 - rs1386486 - rs1386482(T-T-A), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(G-T-T-C-G-C-G), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(T-C-C-C-T-C-T), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(T-C-T-G-G-T-T), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(T-T-T-C-G-C-T)
These results strongly support a role for TPH2 in the aetiology of BPAD. Positive Comment on Study
Campos, S. B., 2010 SNP: rs10506645, rs10879357, rs11179000, rs1487275, rs4448731, rs4565946, rs4760820, rs7955501
Haplotype: rs4448731 - rs4565946 - rs11179000(CCT), rs4565946 - rs11179000 - rs7955501 - rs10506645(CATT), rs7955501 - rs10506645 - rs4760820(ATC)
Our findings do not support the association between diagnosis of BD or suicidal behavior and TPH2 polymorphisms. Negative Comment on Study
Xiang, B., 2013 SNP: rs17110566 Our results indicate that the TPH2 gene in the serotonin pathway play important roles in susceptibility to BP-I. Positive Comment on Study
Grigoroiu-Serbanescu, M.,2008 SNP: rs10748185, rs11178997, rs11178998, rs11178999, rs11615016, rs11834097, rs1386486, rs1386497, rs1487275, rs17110477, rs17110563, rs17722134, rs1843809, rs4760820, rs7954758
Haplotype: rs1386497 - rs11834097 - rs4760820 - rs17722134(), rs1386497 - rs11834097 - rs4760820 - rs17722134(ACCA), rs1386497 - rs11834097 - rs4760820 - rs17722134(ACCG), rs1386497 - rs11834097 - rs4760820 - rs17722134(ATCA), rs1386497 - rs11834097 - rs4760820 - rs17722134(ACGA), rs1386497 - rs11834097 - rs4760820 - rs17722134(CCCA)
These data provide further support for the involvement of genetic variation in TPH2 in the etiology of BPI. Positive Comment on Study
Mann, J. J., 2008 SNP: rs4131347 No association was detected between the rs4131347 (?C8347G) SNP in the promoter region of the TPH2 gene and mood disorders Negative Comment on Study
Van Den Bogaert, A., 2006 (a) SNP: rs10748185, rs11178997, rs1487275, rs1843809, rs2129575, rs4131348, rs4474484
Haplotype: rs11178997 - rs10748185 - rs2129575 - rs1843809(T-A-G-T), rs11178997 - rs10748185 - rs2129575 - rs1843809(T-G-T-T), rs11178997 - rs10748185 - rs2129575 - rs1843809(T-G-G-T), rs11178997 - rs10748185 - rs2129575 - rs1843809(T-G-G-G), rs11178997 - rs10748185 - rs2129575 - rs1843809(A-G-T-T), rs1487275 - rs4474484(A-G, C-A, A-A), rs4131348 - rs4131348(C-T)
Haplotype-based analysis of TPH2 in patients with UP and BP disorder and controls from northern Swedish descent provides preliminary evidence for protective association in both disorders and thus supports a central role for TPH2 in the pathogenesis of affective disorders. Positive Comment on Study
Cichon, S., 2008 SNP: rs10748185, rs11178997, rs11178998, rs11178999, rs11615016, rs11834097, rs1386486, rs1386497, rs1487275, rs17110477, rs17110563, rs17722134, rs1843809, rs4760820, rs7954758 Examination of the functional effects of TPH2 Pro206Ser provided evidence for a reduced thermal stability and solubility of the mutated enzyme, suggesting reduced 5-HT production in the brain as a pathophysiological mechanism in BPAD. Positive Comment on Study
Chen, S., 2014 SNP: rs1386494, rs2171363, rs4760816, rs1386486, rs1872824
Haplotype: rs1386494 - rs2171363 - rs4760816(C-A-C), rs1386494 - rs2171363 - rs4760816(C-G-T), rs1386494 - rs2171363 - rs4760816(T-A-C)
SNPs (rs1386486 and rs1872824) in this gene showed significant differences in genotype frequencies (rs1386486: P-value=0.043351; rs1872824: P-value=0.016563). Our results support TPH2 as a candidate gene causing BPD in the Chinese Han population. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 18)

GO terms by PBA (count: 0)

GO terms by database search (count: 18)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors
Gene related SNPs (count: 148)

Literature-origin SNPs (count: 42)

LD-proxies (count: 106)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Gene related regions (count: 3)

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: 5)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Overlap with MDD from candidate gene intersection analysis (count: 8)

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Region: chr12:71938846..72186618 View in gBrowse
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