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

    Gene ID: 3356, updated on 13-Apr-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See HTR2A in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (46831546..46898082, complement)
    RS_2023_10 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 H3K27ac hESC enhancer GRCh37_chr13:47370431-47371032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7713 Neighboring gene esterase D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7714 Neighboring gene HTR2A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5328 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:47508534-47509733 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:47521457-47522281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7716 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:47676673-47677872 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
    Addictive alcohol use
    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

    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 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 activation of phospholipase C activity IDA
    Inferred from Direct Assay
    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 phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 serotonin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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
      B2RAC5, B4DZ79, F5GWE8, 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 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: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
      B2RAC5, B4DZ79, F5GWE8, P28223, 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: GCF_000001405.40-RS_2023_10

    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)