Gene Report

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Basic Info

Approved Symbol	HTR3A
Previous Symbol	HTR3
Symbol Alias	5-HT3R, 5-HT3A
Approved Name	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
Previous Name	5-hydroxytryptamine (serotonin) receptor 3A
Location	11q23.1-q23.2
Position	chr11:113974881-113990313, 1
External Links	HGNC: 5297 Entrez Gene: 3359 Ensembl: ENSG00000166736 UCSC: uc010rxa.2
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Niesler, B.,2001(a)	Other variant: HTR3A_C195T, HTR3A_C178T	These findings show that the C178T(Pro16Ser) variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder.	Positive	Comment on Study
Niesler, B.,2001(b)	Other variant: HTR3A_exon1_Leu10Leu, HTR3A_exon3_A(+7 IVS3)C, HTR3A_exon6_Leu192Leu, HTR3A_exon7_Lys277Lys, HTR3A_exon8_Arg344His, HTR3A_exon9_Leu459Leu, HTR3A_exon9_Pro391Arg	These results suggest that the observed mutations in HTR3A are rare and therefore do not play a major role in the aetiology of the disorder.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007586	digestion	biological process	TAS[7565620]	6
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[7565620]	158
GO:0004872	receptor activity	molecular function	TAS[9950429]	19
GO:0007268	synaptic transmission	biological process	TAS[7565620]	116
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005249	voltage-gated potassium channel activity	molecular function	IEA	5

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006810	transport	biological process	TAS[7565620]	47
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0004993	serotonin receptor activity	molecular function	IDA[7565620]	12
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0030054	cell junction	cellular component	IEA	88
GO:0051378	serotonin binding	molecular function	IDA[7565620]	6
GO:0007210	serotonin receptor signaling pathway	biological process	IDA[7565620]	12
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0042220	response to cocaine	biological process	IEA	12
GO:0071363	cellular response to growth factor stimulus	biological process	IEA	8
GO:0071805	potassium ion transmembrane transport	biological process	IEA	9
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0005232	serotonin-activated cation-selective channel activity	molecular function	IEA	2
GO:0045471	response to ethanol	biological process	IEA	24
GO:0030424	axon	cellular component	IEA	39

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HTR3A	HSPA5	YES	in vitro;in vivo	12359150
HTR3A	CANX	NO	in vitro;in vivo	12359150

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 9)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
HTR3A_C178T	point mutation		1 (1/0/0)
HTR3A_C195T	point mutation		1 (0/1/0)
HTR3A_exon1_Leu10Leu	point mutation	exon1	1 (0/1/0)
HTR3A_exon3_A(+7 IVS3)C	point mutation	exon3	1 (0/1/0)
HTR3A_exon6_Leu192Leu	point mutation	exon6	1 (0/1/0)
HTR3A_exon7_Lys277Lys	point mutation	exon7	1 (0/1/0)
HTR3A_exon8_Arg344His	point mutation	exon8	1 (0/1/0)
HTR3A_exon9_Leu459Leu	point mutation	exon9	1 (0/1/0)
HTR3A_exon9_Pro391Arg	point mutation	exon9	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
11q22.3-11q23	chr11:102900000-121200000	2 (0/2/0)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q22-q23	chr11:97200000-121200000	1 (0/1/0)

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

Gene relationship with SZ

Reference	Description	Result Category
11207027	These results suggest that the observed mutations in HTR3A are rare and therefore do not play a major role in the aetiology of the disorder.	Negative

Gene relationship with MDD

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Region: chr11:113974881..113990313 View in gBrowse