HTR2A 5-hydroxytryptamine receptor 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: HTR2Aprovided by HGNC
Official Full Name: 5-hydroxytryptamine receptor 2Aprovided by HGNC
Primary source: HGNC:HGNC:5293
See related: Ensembl:ENSG00000102468 MIM:182135; AllianceGenome:HGNC:5293
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: HTR2; 5-HT2A
Summary: This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression: Biased expression in brain (RPKM 11.8) and gall bladder (RPKM 0.8) See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (46831546..46898082, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (46052771..46119333, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (47405681..47472217, complement)

Chromosome 13 - NC_000013.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

G protein-specific mechanisms in the serotonin 5-HT2A receptor regulate psychosis-related effects and memory deficits.
Title: G protein-specific mechanisms in the serotonin 5-HT(2A) receptor regulate psychosis-related effects and memory deficits.
The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population.
Title: The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population.
Fibroblast expression of neurotransmitter receptor HTR2A associates with inflammation in rheumatoid arthritis joint.
Title: Fibroblast expression of neurotransmitter receptor HTR2A associates with inflammation in rheumatoid arthritis joint.
Association of Serotonin Receptor Gene Polymorphisms with Regulatory and Adaptive Capacities of Medical Students.
Title: Association of Serotonin Receptor Gene Polymorphisms with Regulatory and Adaptive Capacities of Medical Students.
Interaction between HTR2A rs3125 and negative life events in suicide attempts among patients with major depressive disorder: a cross-sectional study.
Title: Interaction between HTR2A rs3125 and negative life events in suicide attempts among patients with major depressive disorder: a cross-sectional study.
A role for the serotonin 2A receptor in the expansion and functioning of human transmodal cortex.
Title: A role for the serotonin 2A receptor in the expansion and functioning of human transmodal cortex.
Genetic variation of the 5-HT1A rs6295, 5-HT2A rs6311, and CNR1 rs1049353 and an altered endocannabinoid system in depressed patients.
Title: Genetic variation of the 5-HT1A rs6295, 5-HT2A rs6311, and CNR1 rs1049353 and an altered endocannabinoid system in depressed patients.
In Vivo Serotonin 5-HT2A Receptor Availability and Its Relationship with Aggression Traits in Healthy Individuals: A Positron Emission Tomography Study with C-11 MDL100907.
Title: In Vivo Serotonin 5-HT2A Receptor Availability and Its Relationship with Aggression Traits in Healthy Individuals: A Positron Emission Tomography Study with C-11 MDL100907.
Association between the rs6313 polymorphism in the 5-HTR2A gene and the efficacy of antipsychotic drugs.
Title: Association between the rs6313 polymorphism in the 5-HTR2A gene and the efficacy of antipsychotic drugs.
Association between single-nucleotide polymorphisms in serotonin receptor 2A and melatonin receptor 1A genes and pain after root canal treatment.
Title: Association between single-nucleotide polymorphisms in serotonin receptor 2A and melatonin receptor 1A genes and pain after root canal treatment.

Submit: New GeneRIF Correction See all GeneRIFs (493)

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

Associated conditions

Description	Tests
Alcohol dependence MedGen: C0001973 OMIM: 103780 GeneReviews: Not available	Compare labs
Anorexia nervosa, susceptibility to, 1 MedGen: C1847492 OMIM: 606788 GeneReviews: Not available	Compare labs
Major depressive disorder MedGen: C1269683 OMIM: 608516 GeneReviews: Not available	Compare labs
Obsessive-compulsive disorder MedGen: C0028768 OMIM: 164230 GeneReviews: Not available	Compare labs
Schizophrenia MedGen: C0036341 OMIM: 181500 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. 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

RH69922 (e-PCR)
- UniSTS:55808

WI-15917 (e-PCR)
- UniSTS:21844

RH48562 (e-PCR)
- UniSTS:40286

D13S672E (e-PCR)
- UniSTS:153204

D13S1180 (e-PCR)
- UniSTS:51864

HTR2A_1901 (e-PCR)
- UniSTS:462260

SGC31576 (e-PCR)
- UniSTS:58296

HTR2A (e-PCR)
- UniSTS:480187

HTR2A-2 (e-PCR)
- UniSTS:31941

HTR2A-112F (e-PCR)
- UniSTS:31941

SHGC-155210 (e-PCR)
- UniSTS:182726

PMC311033P4 (e-PCR)
- UniSTS:272842

PMC311033P7 (e-PCR)
- UniSTS:272845

SHGC-145834 (e-PCR)
- UniSTS:174826

NoName (e-PCR)
- UniSTS:482037

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding	IDA Inferred from Direct Assay more info	PubMed
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 Gq/11-coupled serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables serotonin binding	IDA Inferred from Direct Assay more info	PubMed
enables serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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 G protein-coupled serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in G protein-coupled serotonin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in artery smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in behavioral response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of mechanical stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in detection of temperature stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating serotonin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytokine production involved in immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of execution phase of apoptosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heat generation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet aggregation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cytoskeleton	IEA Inferred from Electronic Annotation more info
involved_in regulation of dopamine secretion	IEA Inferred from Electronic Annotation more info
involved_in release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in sensitization	IEA Inferred from Electronic Annotation more info
involved_in serotonin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info
involved_in temperature homeostasis	IEA Inferred from Electronic Annotation more info
involved_in urinary bladder smooth muscle contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of G protein-coupled serotonin receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IEA Inferred from Electronic Annotation more info
located_in caveola	IEA Inferred from Electronic Annotation more info
located_in cell body fiber	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in neurofilament	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 5-hydroxytryptamine receptor 2A

Names: 5-HT2 receptor; 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled; serotonin 5-HT-2A receptor

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_013011.1 RefSeqGene

Range

4959..70493

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1008

mRNA and Protein(s)

NM_000621.5 → NP_000612.1 5-hydroxytryptamine receptor 2A isoform 1

See identical proteins and their annotated locations for NP_000612.1

Status: REVIEWED

Source sequence(s)

AL136958, AL160397

Consensus CDS

CCDS9405.1

UniProtKB/Swiss-Prot

B2RAC5, B4DZ79, F5GWE8, P28223, Q5T8C0

Related

ENSP00000437737.1, ENST00000542664.4

Conserved Domains (1) summary

cd15304
Location:75 → 391

7tmA_5-HT2A; serotonin receptor subtype 2A, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001165947.5 → NP_001159419.2 5-hydroxytryptamine receptor 2A isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL136958, AL160397

Consensus CDS

CCDS53867.2

UniProtKB/TrEMBL

A0A7P0PKG8, B3VRB0

Related

ENSP00000441861.2, ENST00000543956.5

Conserved Domains (2) summary

cd14964
Location:27 → 50

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:1 → 228

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001378924.1 → NP_001365853.1 5-hydroxytryptamine receptor 2A isoform 1

Status: REVIEWED

Source sequence(s)

AL136958, AL160397

Consensus CDS

CCDS9405.1

UniProtKB/Swiss-Prot

B2RAC5, B4DZ79, F5GWE8, P28223, Q5T8C0

Conserved Domains (1) summary

cd15304
Location:75 → 391

7tmA_5-HT2A; serotonin receptor subtype 2A, member of the class A family of seven-transmembrane G protein-coupled receptors