Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	HTR1A
Previous Symbol	ADRB2RL1, ADRBRL1
Symbol Alias	5-HT1A
Approved Name	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
Previous Name	5-hydroxytryptamine (serotonin) receptor 1A
Location	5q11.2-q13
Position	chr5:63960356-63962507, -1
External Links	HGNC: 5286 Entrez Gene: 3350 Ensembl: ENSG00000178394 UCSC: uc011cqt.3
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kishi, T.,2012(a)	SNP: rs6295, rs878567	Results from this expanded meta-analysis, which included our own new study, suggest that rs6295 (C-1019G) and rs878567 in HTR1A are related to the pathophysiology of MDs, with overlap between MDD and BP. Findings provide additional clues to the underlying biology and treatment targets in MDs.	Positive	Comment on Study
Vincent, J. B.,1999(a)	Other variant: HTR1A_(CA)n/(GT)n_10	No significant differences were found in bipolar groups.	Negative	Comment on Study
Kishi, T.,2011(b)	SNP: rs6295, rs878567 Haplotype: rs6295 - rs878567(C-C), rs6295 - rs878567(G-C)	HTR1A may play an important role in the pathophysiology of BP, but not schizophrenia in the Japanese population.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	IDA[22957663]	158

GO terms by database search (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[22035699]	563
GO:0042310	vasoconstriction	biological process	IEA	5
GO:0004993	serotonin receptor activity	molecular function	IDA[8393041]; IMP[22957663]	12
GO:0042428	serotonin metabolic process	biological process	ISS	3
GO:0007186	G-protein coupled receptor signaling pathway	biological process	IMP[22957663]	64
GO:0014062	regulation of serotonin secretion	biological process	ISS	2
GO:0008283	cell proliferation	biological process	IEA	37
GO:0008284	positive regulation of cell proliferation	biological process	TAS[1330092]	44
GO:0001662	behavioral fear response	biological process	ISS	16
GO:0007198	adenylate cyclase-inhibiting serotonin receptor signaling pathway	biological process	IDA[8393041]	1
GO:0050795	regulation of behavior	biological process	IEA	4
GO:0035640	exploration behavior	biological process	ISS	4
GO:0046883	regulation of hormone secretion	biological process	IEA	2
GO:0042053	regulation of dopamine metabolic process	biological process	ISS	6
GO:0007210	serotonin receptor signaling pathway	biological process	ISS	12

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HTR1A	S1PR1	NO	in vitro;in vivo	11854302
HTR1A	GABBR2	YES	in vivo	11854302
HTR1A	GPR26	NO	in vitro;in vivo	11854302
HTR1A	S1PR3	NO	in vitro;in vivo	11854302
HTR1A	HTR1B	NO	in vitro;in vivo	11854302
HTR1A	HTR1D	YES	in vitro;in vivo	11854302
HTR1A	GNAI3	NO	in vitro;in vivo	8218170

Related other genetic factors

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6295	chr5:63962738 - 63962738(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(2/0/0)
rs878567	chr5:63960164 - 63960164(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	2(1/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs1423691	chr5:63955835 - 63955835(1)	downstream_gene_variant
rs10042486	chr5:63965502 - 63965502(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6449693	chr5:63960191 - 63960191(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs6878612	chr5:63966735 - 63966735(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
HTR1A_(CA)n/(GT)n_10	duplication		1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5p13.1-5q12.3	chr5:38400000-67400000	1 (0/1/0)
5p13.3-q13.3	chr5:28900000-77600000	1 (1/0/0)

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

Gene relationship with SZ

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

Reference	Description	Result Category
20594600	HTR1A may play an important role in the pathophysiology of BP, but not schizophrenia in the Japanese population.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 5)

Reference	ID in SZGene	Result Category
8678105	335	Negative
20594600	335	Negative
9754630	335	Negative
8546152	335	Negative
15469667	335	Positive

Gene relationship with MDD

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

Reference	Description	Category in MDD
22752684	Results from this expanded meta-analysis, which included our own new study, suggest that rs6295 (C-1019G) and rs878567 in HTR1A are related to the pathophysiology of MDs, with overlap between MDD and BP. Findings provide additional clues to the underlying biology and treatment targets in MDs.	Positive

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

Reference	Description	Category in MDD	Link in MK4MDD
19105200	The sample comprised 426 patients suffering from unipolar MD as well as 643 healthy control subjects for the variants of the 5-HT(1A) receptor and the NET. Both SNPs were shown to be associated with MD. In conclusio	Pos	HTR1A
18706198	There was a statistically significant difference between MDD patients and controls in both the genotype distribution (Chi(2) = 10.913, df = 2, P = 0.004) and the allele frequency (Chi(2) = 10.379, df = 1, P = 0.001)	Pos	HTR1A
21512427	Genetic variability at HTR1A was significantly associated with MD [odds ratio (OR) = 1.67; 95% confidence interval (CI) = 1.14-2.44; P = 0.008]	Pos	HTR1A
18163385	four SNPs spanning the HTR1A locus, including the C(-1019)G functional promoter polymorphism (rs6295), were screened in stage 1, the positive results of which were tested for replication in stage 2. While one marker met threshold significance criteria in stage 1, this association was not replicated in stage 2.	Neg	HTR1A
23273899	No association with mood disorders and clinical outcomes was observed	Neg	HTR1A
14744462	In the DLPFC(dorsolateral prefrontal cortex), there is a significant decrease in 5-HT(1A) mRNA of subjects with MDD	Pos	HTR1A
18268499	Linkage analysis on Utah pedigrees with strong family histories of major depression including only cases with the HTR1A -1019G allele revealed a linkage peak on chromosome 10 (maximum HLOD=4.4)	Pos	HTR1A
14507979	In depressed patients, the homozygous G(-1019) allele was enriched twofold versus controls (p = 0.0017 and 0.0006 for G/G genotype and G allele distribution, respectively), and in completed suicide cases the G(-1019) allele was enriched fourfold (p = 0.002 and 0.00008 for G/G genotype and G allele distribution, respectively).	Pos	HTR1A

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Region: chr5:63960356..63962507 View in gBrowse