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
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
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	13	NC_000013.11 (46831546..46898082, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (47405677..47471211, 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?

[The role of genetic factors in the development of suicidal behavior in individuals with dependence on synthetic cathinones].", trans "Rol' geneticheskikh faktorov v razvitii suitsidal'nogo povedeniya u lits s zavisimost'yu ot sinteticheskikh katinonov.
Title: [The role of genetic factors in the development of suicidal behavior in individuals with dependence on synthetic cathinones].
Essential role of the C148-C227 disulphide bridge in the human 5-HT2A homodimeric receptor.
Title: Essential role of the C148-C227 disulphide bridge in the human 5-HT2A homodimeric receptor.
Differential allosteric modulation within dopamine D2R - neurotensin NTS1R and D2R - serotonin 5-HT2AR receptor complexes gives bias to intracellular calcium signalling.
Title: Differential allosteric modulation within dopamine D2R - neurotensin NTS1R and D2R - serotonin 5-HT2AR receptor complexes gives bias to intracellular calcium signalling.
Serotonin 5-HT2A receptor expression and functionality in postmortem frontal cortex of subjects with schizophrenia: Selective biased agonism via Galphai1-proteins.
Title: Serotonin 5-HT2A receptor expression and functionality in postmortem frontal cortex of subjects with schizophrenia: Selective biased agonism via Gαi1-proteins.
Lower limb muscle strength and serotonin receptor gene polymorphism as factors associated in women with fibromyalgia.
Title: Lower limb muscle strength and serotonin receptor gene polymorphism as factors associated in women with fibromyalgia.
The T102C polymorphism of 5HT2A receptor in oral epithelial dysplasia: A pilot case-control study.
Title: The T102C polymorphism of 5HT2A receptor in oral epithelial dysplasia: A pilot case-control study.
HTR2A rs6313 was associated with sertraline dose ( p = 0.011) and time to the average maximum sertraline dose ( p = 0.039). HTR2A rs6313 was associated with response dose ( p = 0.022).
Title: Pharmacogenetics of Sertraline Tolerability and Response in Pediatric Anxiety and Depressive Disorders.
JC polyomavirus interacts with each of the 5-HT2 receptors (5-HT2Rs) in a narrow window of time during entry. CRISPR-Cas9 was used to randomly introduce stop codons in the gene for each receptor and revealed that the second intracellular loop of each was necessary for infection. This loop contains a motif possibly involved in receptor internalization by beta-arrestin.
Title: Genetic and Functional Dissection of the Role of Individual 5-HT2 Receptors as Entry Receptors for JC Polyomavirus.
There was 33% lower 5-HT2A receptor binding in Brodmann area 41/42 in individuals who had a history of major depressive episode than in controls.
Title: 5-HT1A receptor, 5-HT2A receptor and serotonin transporter binding in the human auditory cortex in depression
Genome-Wide Association Study for radiation-related subsequent basal cell carcinoma among irradiated childhood cancer survivors identified a risk locus in HTR2A that was specific to survivors with reduced nongenetic risk.
Title: Genome-Wide Association Study in Irradiated Childhood Cancer Survivors Identifies HTR2A for Subsequent Basal Cell Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (451)

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 1 MedGen: C1847492 OMIM: 606788 GeneReviews: Not available	Compare labs
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. GeneReviews: Not available
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

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: 272 organisms have orthologs with human gene HTR2A
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA Inferred from Biological aspect of Ancestor more info	PubMed
G protein-coupled serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
G protein-coupled serotonin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
activation of phospholipase C activity	IDA Inferred from Direct Assay more info	PubMed
aging	IEA Inferred from Electronic Annotation more info
artery smooth muscle contraction	IEA Inferred from Electronic Annotation more info
behavioral response to cocaine	IEA Inferred from Electronic Annotation more info
cell death	IEA Inferred from Electronic Annotation more info
cellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
detection of mechanical stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
detection of temperature stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
memory	IEA Inferred from Electronic Annotation more info
negative regulation of potassium ion transport	IEA Inferred from Electronic Annotation more info
negative regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
phosphatidylinositol 3-kinase signaling	IDA Inferred from Direct Assay more info	PubMed
phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phospholipase C-activating serotonin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
positive regulation of MAP kinase activity	IEA Inferred from Electronic Annotation more info
positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of glycolytic process	IEA Inferred from Electronic Annotation more info
positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
positive regulation of phosphatidylinositol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
protein localization to cytoskeleton	IEA Inferred from Electronic Annotation more info
regulation of dopamine secretion	IEA Inferred from Electronic Annotation more info
regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
response to drug	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to drug	IDA Inferred from Direct Assay more info	PubMed
serotonin receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
sleep	IEA Inferred from Electronic Annotation more info
temperature homeostasis	IEA Inferred from Electronic Annotation more info
urinary bladder smooth muscle contraction	IEA Inferred from Electronic Annotation more info
viral entry into host cell	IEA Inferred from Electronic Annotation more info

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

Related

ENSP00000437737.1, ENST00000542664.3

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

CCDS53867.1

Related

ENSP00000441861.2, ENST00000543956.5
NM_001378924.1 → NP_001365853.1 5-hydroxytryptamine receptor 2A isoform 1

Status: REVIEWED

Source sequence(s)

AL136958, AL160397

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