Gene Report

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Basic Info

Approved Symbol	HTR5A
Symbol Alias	5-HT5A
Approved Name	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled
Previous Name	5-hydroxytryptamine (serotonin) receptor 5A
Location	7q36.1
Position	chr7:155070324-155085749, 1
External Links	HGNC: 5300 Entrez Gene: 3361 Ensembl: ENSG00000157219 UCSC: uc003wlu.2
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: rs1800883 Haplotype: rs1800883 - rs2581841 - rs10254608(C-C-C), rs1800883 - rs2581841 - rs10254608(G-T-A)	Significant association of SNP in this gene with BD in our population was observed.	Positive	Comment on Study
Arias, B., 2001	Other variant: HTR5A_12A/T, HTR5A_19G/C	In summary, we did not find evidence for association between variability of the 5-HT5A human receptor gene and affective disorders.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

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	IEA	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043204	perikaryon	cellular component	IEA	17
GO:0030425	dendrite	cellular component	IEA	65
GO:0019933	cAMP-mediated signaling	biological process	IEA	6
GO:0032355	response to estradiol	biological process	IEA	11
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	biological process	IEA	17
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[7988681]	64
GO:0021766	hippocampus development	biological process	IEA	7
GO:0005791	rough endoplasmic reticulum	cellular component	IEA	4
GO:0004993	serotonin receptor activity	molecular function	IDA[7988681]	12
GO:0007210	serotonin receptor signaling pathway	biological process	IDA[7988681]; IEA	12
GO:0005794	Golgi apparatus	cellular component	IEA	60

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

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: 0)

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1800883	chr7:155070881 - 155070881(1)	5_prime_UTR_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
HTR5A_12A/T	point mutation		1 (0/1/0)
HTR5A_19G/C	point mutation		1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7q34-qter	chr7:138500000-159345973	1 (0/1/0)
7q36	chr7:148200000-159345973	3 (0/0/3)

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

Gene relationship with SZ

Gene relationship with MDD

Reference	Description	Category in MDD
11311505	In summary, we did not ?nd evidence for association between variability of the 5-HT5A human receptor gene and affective disorders.	Negative

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Region: chr7:155070324..155085749 View in gBrowse