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    HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled [ Homo sapiens (human) ]

    Gene ID: 3356, updated on 31-Jan-2016
    Official Symbol
    HTR2Aprovided by HGNC
    Official Full Name
    5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupledprovided by HGNC
    Primary source
    HGNC:HGNC:5293
    See related
    Ensembl:ENSG00000102468; HPRD:01638; MIM:182135; Vega:OTTHUMG00000016881
    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]
    Orthologs
    See HTR2A in Epigenomics, MapViewer
    Location:
    13q14-q21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (46831542..46897076, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (47405677..47471211, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene leucine-rich repeats and calponin homology (CH) domain containing 1 Neighboring gene esterase D Neighboring gene HTR2A antisense RNA 1 Neighboring gene uncharacterized LOC105370195 Neighboring gene guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Major depressive disorder
    MedGen: C1269683 OMIM: 608516 GeneReviews: Not available
    Compare labs
    Obsessive-compulsive disorder
    MedGen: C1834037 OMIM: 164230 GeneReviews: Not available
    Compare labs
    Schizophrenia
    MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    NHGRI GWA Catalog
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    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
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    • Calcium signaling pathway, conserved biosystem (from KEGG)
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    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
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      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
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    • Gap junction, organism-specific biosystem (from KEGG)
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    • Inflammatory mediator regulation of TRP channels, organism-specific biosystem (from KEGG)
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    • Inflammatory mediator regulation of TRP channels, conserved biosystem (from KEGG)
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    • Monoamine GPCRs, organism-specific biosystem (from WikiPathways)
      Monoamine GPCRs, organism-specific biosystem
      Monoamine GPCRs
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
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      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
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    • Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystem (from WikiPathways)
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    • Serotonin receptors, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    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 alpha-subunit binding IEA
    Inferred from Electronic Annotation
    more info
     
    G-protein coupled serotonin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein 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
    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 
    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 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 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 behavior IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dopamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serotonin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sleep IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    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
    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, membrane-bounded vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic shaft IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma 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
     
    Preferred Names
    5-hydroxytryptamine receptor 2A
    Names
    5-HT2 receptor
    serotonin 5-HT-2A receptor

    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)

    mRNA and Protein(s)

    1. NM_000621.4NP_000612.1  5-hydroxytryptamine receptor 2A isoform 1

      See identical proteins and their annotated locations for NP_000612.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AK314132, AL136958, DA233936, DA247468, DN990785
      Consensus CDS
      CCDS9405.1
      UniProtKB/Swiss-Prot
      P28223
      Related
      ENSP00000437737, ENST00000542664
      Conserved Domains (2) summary
      pfam00001
      Location:97380
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:89207
      7tm_4; Olfactory receptor
    2. NM_001165947.2NP_001159419.1  5-hydroxytryptamine receptor 2A isoform 2

      See identical proteins and their annotated locations for NP_001159419.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, that causes translation initiation at an upstream AUG. The resulting protein (isoform 2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL136958, BX647777, DA233936, DA247468
      Consensus CDS
      CCDS53867.1
      UniProtKB/Swiss-Prot
      P28223
      Related
      ENSP00000441861, ENST00000543956
      Conserved Domains (1) summary
      pfam00001
      Location:54296
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

      Range
      46831542..46897076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      47373460..47438997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)