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

Gene ID: 3356, updated on 26-Oct-2022

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
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Genomic context

See HTR2A in Genome Data Viewer
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_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984563 Neighboring gene esterase D Neighboring gene HTR2A antisense RNA 1 Neighboring gene uncharacterized LOC105370195 Neighboring gene G protein subunit gamma 5 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

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

  1. NG_013011.1 RefSeqGene

    Range
    4959..70493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1008

mRNA and Protein(s)

  1. NM_000621.5NP_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:75391
    7tmA_5-HT2A; serotonin receptor subtype 2A, member of the class A family of seven-transmembrane G protein-coupled receptors
  2. NM_001165947.5NP_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:2750
    7tm_GPCRs; TM helix 4 [structural motif]
    cl28897
    Location:1228
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  3. NM_001378924.1NP_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:75391
    7tmA_5-HT2A; serotonin receptor subtype 2A, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    46831546..46898082 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    46052771..46119333 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)