ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	HTR1B
Symbol Alias	S12, 5-HT1B, HTR1D2, 5-HT1DB
Approved Name	5-hydroxytryptamine (serotonin) receptor 1B
Location	6q13
Position	chr6:78171922-78173181, -
External Links	HGNC: 5287 Entrez Gene: 3351 Ensembl: ENSG00000135312 UCSC: uc003pil.1
No. of Studies	13 (significant: 5; non-significant: 8; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 13)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Guimaraes AP, 2009	haplotype analyses: P-value=0.014. detected an over-transmission of -261G/-161T/861G haplotype in this gene.	Significant
Gizer IR, 2009	The present study provides significant evidence suggesting an association between childhood ADHD and this gene.	Significant
Carpentier, P. J., 2012	No significant association was found.	Non-significant
Hawi Z, 2002	Significant preferential transmission of the allele 861G of the HTR1B was observed in the total sample	Significant
Quist JF, 2003	TDT results for the HTR1B G861C polymorphism revealed a trend towards preferential transmission of the 861G allele and exhibited significantly greater paternal transmission of the G allele to the affected child; provided additional evidence that serotonin genes may be important risk factors for the development of ADHD	Significant
Brookes K, 2006	UNPHASED TDT P-value=0.198, global P-value=0.928, WHAP TDT P_sum P-value=0.441, no SNP with nominal P-value<0.05 located in this gene	Non-significant
Ickowicz A, 2007	Evidence for an association between the HTR1B gene and ADHD as a categorical diagnosis, or the inattentive and hyperactive-impulsive quantitative traits was not supported by either TDT single marker analysis or haplotype analysis.	Non-significant
Heiser P, 2007	1 SNP showed no association to ADHD in their sample	Non-significant
Ribases M, 2009(b)	little evidence of association with ADHD was found.	Non-significant
Li J, 2005	global test TRANSMIT P=0.068, X²=7.139, df=3, in ADHD-I trios, indicated a trend of association between haplotypes and ADHD-I; TRANSMIT P=0.054, X²=3.707, df=1 showed a tendency of excess transmission of 861G/ -161A haplotype; and a trend toward reduced transmission of 861C/-161A (X²=2.925, df=1, P=0.087) and 861C/-161T X²=2.739, df=1, P=0.098).	Non-significant
Bobb AJ, 2005	no polymorphism was associated with ADHD	Non-significant
Smoller JW, 2006	block 3, FBAT P-value=0.009, X² (5df)=15.4, significant association with inattentive subtype; undertransmitted haplotype 3B-ACTTAT FBAT P-value=0.026, overtransmitted haplotype 3D-GGTCAT FBAT P-value=0.016 in inattentive	Significant
Hawi Z, 2005	paternal versus maternal transmissions, 9 genes combined TDT P-value=0.0019, X²=9.6 (1df), OR=1.56; TDT P-value=0.0017, X²=9.8 when 5HT1B was removed in sensitivity analysis	Non-significant

Gene related SNPs (count: 18)

Literature-origin SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1213371	Chr6:78180045(Fwd)		1(0/1/0)
rs2000292	Chr6:78166945(Fwd)		2(1/1/0)
rs11568817	Chr6:78173382(Fwd)	5_prime_UTR_variant	1(0/1/0)
rs6297	Chr6:78171941(Fwd)	downstream_gene_variant	2(1/1/0)
rs130060	Chr6:78172750(Fwd)	missense_variant	1(0/1/0)
rs6296	Chr6:78172260(Fwd)	synonymous_variant	10(3/7/0)
rs130058	Chr6:78173281(Fwd)	5_prime_UTR_variant	2(0/2/0)
rs130056	Chr6:78173631(Fwd)	upstream_gene_variant	1(0/1/0)
rs6298	Chr6:78172992(Fwd)	synonymous_variant	4(0/4/0)

LD-proxies (count: 9)

rs_ID	Location	Functional Annotation
rs9361233	Chr6:78170062(Fwd)	downstream_gene_variant
rs10806098	Chr6:78176009(Fwd)	upstream_gene_variant
rs1228814	Chr6:78173820(Fwd)	upstream_gene_variant
rs17273700	Chr6:78173980(Fwd)	upstream_gene_variant
rs9361235	Chr6:78175842(Fwd)	upstream_gene_variant
rs13192352	Chr6:78168373(Fwd)	downstream_gene_variant
rs1213366	Chr6:78176870(Fwd)	upstream_gene_variant
rs1778258	Chr6:78174209(Fwd)	upstream_gene_variant
rs1213369	Chr6:78178257(Fwd)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
HTR1B_G861C	point mutation		3 (2/1/0)
HTR1B_A-161T	point mutation		1 (0/1/0)

Gene related regions (count: 0)

Gene related GO terms (count: 22)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	Biological Process	TAS[1559993]	18
GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway	Biological Process		8
GO:0005887	integral to plasma membrane	Cellular Component	TAS[1559993]	220
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	TAS[1315531]	72
GO:0005737	cytoplasm	Cellular Component		690
GO:0005886	plasma membrane	Cellular Component		772
GO:0002031	G-protein coupled receptor internalization	Biological Process		6
GO:0004993	serotonin receptor activity	Molecular Function		13
GO:0042493	response to drug	Biological Process		68
GO:0042756	drinking behavior	Biological Process		1
GO:0032229	negative regulation of synaptic transmission, GABAergic	Biological Process		3
GO:0042220	response to cocaine	Biological Process		11
GO:0014059	regulation of dopamine secretion	Biological Process		6
GO:0030818	negative regulation of cAMP biosynthetic process	Biological Process	IDA[8882600]	7
GO:0007268	synaptic transmission	Biological Process		96
GO:0008144	drug binding	Molecular Function		19
GO:0071502	cellular response to temperature stimulus	Biological Process		1
GO:0051967	negative regulation of synaptic transmission, glutamatergic	Biological Process		5
GO:0046849	bone remodeling	Biological Process		6
GO:0045471	response to ethanol	Biological Process		17
GO:0051385	response to mineralocorticoid stimulus	Biological Process		2
GO:0051378	serotonin binding	Molecular Function		7

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	93

Genes shared at least 5 GO terms with HTR1B (count: 23)

Gene Symbol	Pathway Count	Pathway List
DRD3	9	integral to plasma membrane; G-protein coupled receptor signaling pathway; plasma membrane; G-protein coupled receptor internalization; response to drug; response to cocaine; regulation of dopamine secretion; drug binding; response to ethanol;
HTR2A	9	integral to plasma membrane; plasma membrane; serotonin receptor activity; response to drug; regulation of dopamine secretion; synaptic transmission; drug binding; negative regulation of synaptic transmission, glutamatergic; serotonin binding;
DRD2	8	integral to plasma membrane; plasma membrane; G-protein coupled receptor internalization; response to drug; response to cocaine; regulation of dopamine secretion; drug binding; negative regulation of synaptic transmission, glutamatergic;
SLC6A3	8	integral to plasma membrane; cytoplasm; plasma membrane; response to drug; response to cocaine; synaptic transmission; drug binding; response to ethanol;
HTR1E	7	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; G-protein coupled receptor signaling pathway; plasma membrane; serotonin receptor activity; synaptic transmission; serotonin binding;
CNR1	6	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; plasma membrane; response to cocaine; drug binding; response to ethanol;
HTR1D	6	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; plasma membrane; serotonin receptor activity; synaptic transmission; serotonin binding;
HTR1F	6	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; plasma membrane; serotonin receptor activity; synaptic transmission; serotonin binding;
HTR4	6	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; G-protein coupled receptor signaling pathway; cytoplasm; plasma membrane; serotonin receptor activity;
HTR6	6	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; plasma membrane; serotonin receptor activity; response to drug; synaptic transmission;
HTR2C	6	plasma membrane; serotonin receptor activity; response to drug; synaptic transmission; drug binding; serotonin binding;
HTR5A	5	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; G-protein coupled receptor signaling pathway; plasma membrane; serotonin receptor activity;
HTR7	5	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane; plasma membrane; serotonin receptor activity; synaptic transmission;
CHRM1	5	protein kinase C-activating G-protein coupled receptor signaling pathway; integral to plasma membrane; G-protein coupled receptor signaling pathway; plasma membrane; drug binding;
EDNRA	5	protein kinase C-activating G-protein coupled receptor signaling pathway; integral to plasma membrane; G-protein coupled receptor signaling pathway; plasma membrane; negative regulation of cAMP biosynthetic process;
GRM5	5	protein kinase C-activating G-protein coupled receptor signaling pathway; integral to plasma membrane; cytoplasm; plasma membrane; synaptic transmission;
ADRA1A	5	integral to plasma membrane; G-protein coupled receptor signaling pathway; plasma membrane; response to drug; negative regulation of synaptic transmission, GABAergic;
ADRA2A	5	integral to plasma membrane; G-protein coupled receptor signaling pathway; cytoplasm; plasma membrane; negative regulation of cAMP biosynthetic process;
GABBR2	5	integral to plasma membrane; G-protein coupled receptor signaling pathway; cytoplasm; plasma membrane; synaptic transmission;
GRIN2A	5	integral to plasma membrane; plasma membrane; response to drug; synaptic transmission; response to ethanol;
HTR3A	5	integral to plasma membrane; plasma membrane; serotonin receptor activity; synaptic transmission; serotonin binding;
SLC18A2	5	integral to plasma membrane; plasma membrane; response to cocaine; synaptic transmission; drug binding;
SLC6A1	5	integral to plasma membrane; plasma membrane; negative regulation of synaptic transmission, GABAergic; response to cocaine; synaptic transmission;

Genes shared at least 2 KEGG pathways with HTR1B (count: 0)

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Region: chr6:78171922..78173181 View in gBrowse