Gene Report

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Basic Info

Approved Symbol	HTR3B
Symbol Alias	5-HT3B
Approved Name	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic
Previous Name	5-hydroxytryptamine (serotonin) receptor 3B
Location	11q23.1
Position	chr11:113904677-113946565, 1
External Links	HGNC: 5298 Entrez Gene: 9177 Ensembl: ENSG00000149305 UCSC: uc001pok.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2009	SNP: rs1176744, rs17116138	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Frank, B., 2004	Other variant: HTR3B_386A>C (Tyr129Ser), HTR3B_547G>A (Val183Ile), HTR3B_IVS4+11C>T, HTR3B_IVS4+12G>A, HTR3B_IVS6+72A>G, HTR3B_5'UTR_ -102delAAG	we observed a significant underrepresentation of the 3 bp deletion -100_-102delAAG in an extended sample of 162 bipolar affected patients compared to controls (allele-wise: 8% vs. 15%, P = 0.006, OR = 0.49, 95% CI: 0.3-0.82; genotype-wise: 15, 5% vs. 29, 0%, P = 0.005, OR = 0.45, 95% CI: 0.26-0.77). We suggest that this deletion may influence translational efficiency, thereby possibly affecting the development of bipolar affective disease.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005216	ion channel activity	molecular function	TAS[9950429]	2
GO:0005887	integral component of plasma membrane	cellular component	IEA	158
GO:0007268	synaptic transmission	biological process	TAS[9950429]	116
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0045211	postsynaptic membrane	cellular component	IEA	68

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007210	serotonin receptor signaling pathway	biological process	IEA	12
GO:0004993	serotonin receptor activity	molecular function	IEA	12
GO:0098655	cation transmembrane transport	biological process	IEA	16
GO:0009986	cell surface	cellular component	IDA[16571125]	40
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0005232	serotonin-activated cation-selective channel activity	molecular function	IEA	2
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0006810	transport	biological process	TAS[9950429]	47

Gene related KEGG pathways (count: 0)

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: 16)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1176744	chr11:113932306 - 113932306(1)	missense_variant	1(0/1/0)
rs17116138	chr11:113932944 - 113932944(1)	missense_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs17116124	chr11:113931713 - 113931713(1)	intron_variant
rs17116121	chr11:113930946 - 113930946(1)	intron_variant; upstream_gene_variant
rs1176741	chr11:113936593 - 113936593(1)	intron_variant
rs17116145	chr11:113933604 - 113933604(1)	intron_variant
rs1176739	chr11:113937095 - 113937095(1)	intron_variant
rs1176740	chr11:113936674 - 113936674(1)	intron_variant
rs4936284	chr11:113940507 - 113940507(1)	intron_variant
rs11214769	chr11:113919946 - 113919946(1)	intron_variant
rs1176738	chr11:113937373 - 113937373(1)	intron_variant
rs1176743	chr11:113933386 - 113933386(1)	intron_variant
rs4938058	chr11:113918658 - 113918658(1)	intron_variant
rs7103572	chr11:113919377 - 113919377(1)	intron_variant
rs3758987	chr11:113904553 - 113904553(1)	upstream_gene_variant
rs1176761	chr11:113942891 - 113942891(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 6)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
HTR3B_IVS6+72A>G	point mutation		1 (0/1/0)
HTR3B_386A>C (Tyr129Ser)	point mutation		1 (1/0/0)
HTR3B_547G>A (Val183Ile)	point mutation		1 (1/0/0)
HTR3B_5'UTR_ -102delAAG	insertion/deletion	5'UTR	1 (1/0/0)
HTR3B_IVS4+11C>T	point mutation		1 (0/1/0)
HTR3B_IVS4+12G>A	point mutation		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
15389765	Most of the tested SNPs did not reach statistical significance since there was no outstanding difference in allele and genotype distributions between the sample of patients with BPAD or SZ and the control sample	Negative

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
16487942	In HTR3B, haplotype block 2 that included a nonsynonymous single nucleotide polymorphism (SNP), yielded evidence of association with major depression in females (global p = .0023).	Pos	HTR3B

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Region: chr11:113904677..113946565 View in gBrowse