HTR5A 5-hydroxytryptamine receptor 5A [Homo sapiens (human)] - Gene

Summary

Official Symbol: HTR5Aprovided by HGNC
Official Full Name: 5-hydroxytryptamine receptor 5Aprovided by HGNC
Primary source: HGNC:HGNC:5300
See related: Ensembl:ENSG00000157219 MIM:601305; AllianceGenome:HGNC:5300
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 5-HT5A
Summary: The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 2.3) See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (155070324..155087392)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (156245922..156265002)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (154862034..154879102)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

5-HT receptor agonist Valerenic Acid enhances the innate immunity signal and suppresses glioblastoma cell growth and invasion.
Title: 5-HT receptor agonist Valerenic Acid enhances the innate immunity signal and suppresses glioblastoma cell growth and invasion.
results provide further supportive evidence of the effect of HTR1A and HTR5A on the etiology of schizophrenia and suggest that the selected genetic variations in HTR5A may be involved in impaired executive function.
Title: Evaluation of association of common variants in HTR1A and HTR5A with schizophrenia and executive function.
Results suggest that TPH1 218A/C and HTR5A 12A/T polymorphisms cannot predict treatment response in major depression
Title: Serotonin-related polymorphisms in TPH1 and HTR5A genes are not associated with escitalopram treatment response in Korean patients with major depression.
Childhood anxiousness did not mediate the effects of HTR2A and HTR5A on mood disorders.
Title: Differences and similarities in the serotonergic diathesis for suicide attempts and mood disorders: a 22-year longitudinal gene-environment study.
Serotonin (5-HT) receptor 5A sequence variants affect human plasma triglyceride levels
Title: Serotonin (5-HT) receptor 5A sequence variants affect human plasma triglyceride levels.
Association of a SNP of HTR5A gene is a susceptibility factor to bipolar disease in Bulgarian population.
Title: Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Differences and similarities in the serotonergic diathesis for suicide attempts and mood disorders: a 22-year longitudinal gene-environment study.
In individuals in Brazil with the A/A variant of the -1438G/A polymorphism of the 2A receptor gene, the effect of cultural consonance in family life on depressive symptoms over a 2 year period was larger than those with the G/A or G/G variants.
Title: Cultural consonance, a 5HT2A receptor polymorphism, and depressive symptoms: a longitudinal study of gene x culture interaction in urban Brazil.
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
N-glycosylation of the N6 residue is important for the membrane expression of this 5-HT5A neurotransmitter receptor; a requirement for receptor function.
Title: Identification and functional significance of N-glycosylation of the 5-ht5A receptor.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of the five-factor model of personality in young Korean women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide interaction study of smoking and bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2131E (e-PCR)
- UniSTS:151130

SHGC-146443 (e-PCR)
- UniSTS:175219

SHGC-145737 (e-PCR)
- UniSTS:184531

HTR5A (e-PCR)
- UniSTS:3047

NoName (e-PCR)
- UniSTS:486132

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled serotonin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables Gi/o-coupled serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-inhibiting serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 5-hydroxytryptamine receptor 5A

Names: 5-HT-5; 5-HT-5A; 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_044997.1 RefSeqGene

Range

5001..22069

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1057

mRNA and Protein(s)

NM_024012.4 → NP_076917.1 5-hydroxytryptamine receptor 5A

See identical proteins and their annotated locations for NP_076917.1

Status: REVIEWED

Source sequence(s)

AC092628, AC093726, BC112021, BX538209

Consensus CDS

CCDS5936.1

UniProtKB/Swiss-Prot

P47898, Q2M2D2

UniProtKB/TrEMBL

A4D2N2, Q14D80

Related

ENSP00000287907.2, ENST00000287907.3

Conserved Domains (1) summary

cd15328
Location:41 → 349

7tmA_5-HT5; serotonin receptor subtype 5, member of the class A family of seven-transmembrane G protein-coupled receptors