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
110	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (46831546..46898082, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (46052771..46119333, complement)
105.20220307	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: 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?

Genetic and epigenetic analysis of the serotonin 2A receptor in the context of cocaine abuse.
Title: Genetic and epigenetic analysis of the serotonin 2A receptor in the context of cocaine abuse.
[Association of gene polymorphisms DRD3 rs6280, COMT rs4680 and HTR2A rs7322347 with schizophrenia].", trans "Assotsiatsiya geneticheskikh polimorfizmov rs6280 gena DRD3, rs4680 gena COMT, rs7322347 gena HTR2A s shizofreniei.
Title: [Association of gene polymorphisms DRD3 rs6280, COMT rs4680 and HTR2A rs7322347 with schizophrenia].
Indicators of Immune and Neurohumoral Profile in Women of Fertile Age with Functional Disorders of the Autonomic Nervous System Associated with Polymorphic Variants of the HTR2A (rs7997012) and TP53 (rs1042522) Genes.
Title: Indicators of Immune and Neurohumoral Profile in Women of Fertile Age with Functional Disorders of the Autonomic Nervous System Associated with Polymorphic Variants of the HTR2A (rs7997012) and TP53 (rs1042522) Genes.
Association of 5-HTR2A T102C and A-1438G polymorphisms with clinical response to atypical antipsychotic treatment in schizophrenia: A meta-analysis.
Title: Association of 5-HTR2A T102C and A-1438G polymorphisms with clinical response to atypical antipsychotic treatment in schizophrenia: A meta-analysis.
Associations between the 1438A/G, 102T/C, and rs7997012G/A polymorphisms of HTR2A and the safety and efficacy of antidepressants in depression: a meta-analysis.
Title: Associations between the 1438A/G, 102T/C, and rs7997012G/A polymorphisms of HTR2A and the safety and efficacy of antidepressants in depression: a meta-analysis.
Serotonin 5-HT2A receptor activity mediates adipocyte differentiation through control of adipogenic gene expression.
Title: Serotonin 5-HT<sub>2A</sub> receptor activity mediates adipocyte differentiation through control of adipogenic gene expression.
Is there an association of genetic polymorphisms of the catechol-O-methyltransferase gene (rs165656 and rs174675) and the 5-hydroxytryptamine receptor 2A gene (rs4941573 and rs6313) with sleep bruxism in individuals with obstructive sleep apnea?
Title: Is there an association of genetic polymorphisms of the catechol-O-methyltransferase gene (rs165656 and rs174675) and the 5-hydroxytryptamine receptor 2A gene (rs4941573 and rs6313) with sleep bruxism in individuals with obstructive sleep apnea?
Association of 5-HTR2A -1438A/G polymorphism with anorexia nervosa and bulimia nervosa: A meta-analysis.
Title: Association of 5-HTR2A -1438A/G polymorphism with anorexia nervosa and bulimia nervosa: A meta-analysis.
Common HTR2A variants and 5-HTTLPR are not associated with human in vivo serotonin 2A receptor levels.
Title: Common HTR2A variants and 5-HTTLPR are not associated with human in vivo serotonin 2A receptor levels.
Interclass GPCR heteromerization affects localization and trafficking.
Title: Interclass GPCR heteromerization affects localization and trafficking.

Submit: New GeneRIF Correction See all GeneRIFs (475)

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

Homology

Homologs of the HTR2A gene: The HTR2A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, C.elegans, and frog.
Orthologs from Annotation Pipeline: 341 organisms have orthologs with human gene HTR2A
Orthologs

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	PubMed
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	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables serotonin binding	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	PubMed
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 activation of phospholipase C activity	IDA Inferred from Direct Assay more info	PubMed
involved_in aging	IEA Inferred from Electronic Annotation more info
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 cell death	IEA Inferred from Electronic Annotation more info
involved_in cellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 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 peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol 3-kinase signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in phospholipase C-activating serotonin receptor signaling pathway	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 MAP kinase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	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 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 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 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	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in serotonin receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in sleep	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
involved_in viral entry into host cell	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
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	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	PubMed
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

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

Status: REVIEWED

Source sequence(s)

AL136958, AL160397

Consensus CDS

CCDS53867.2

UniProtKB/TrEMBL

A0A7P0PKG8

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

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