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

Gene ID: 3356, updated on 22-Dec-2014
Official Symbol
HTR2Aprovided by HGNC
Official Full Name
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupledprovided by HGNC
Primary source
HGNC:HGNC:5293
Locus tag
RP11-147L20.2
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]
See HTR2A in Epigenomics, MapViewer
Location:
13q14-q21
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 HTR2A antisense RNA 1 Neighboring gene esterase D Neighboring gene guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5 Neighboring gene nucleosome assembly protein 1-like 4 pseudogene 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Alcohol dependence
MedGen: CN028882 OMIM: 103780 GeneReviews: Not available
Compare labs
Anorexia nervosa 1
MedGen: C1847492 OMIM: 606788 GeneReviews: Not available
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Major depressive disorder
MedGen: C1269683 OMIM: 608516 GeneReviews: Not available
Compare labs
Obsessive-compulsive disorder
MedGen: C1834037 OMIM: 164230 GeneReviews: Not available
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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
  • Amine ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Amine ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to classical biogenic amine ligands are annotated here. The amines involved (acetylcholine, adrenaline, noradrenaline, dopamine, serotonin and histamine)...
  • 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 ...
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    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)
    GPCRs, Other, 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 ...
  • Gap junction, organism-specific biosystem (from KEGG)
    Gap junction, organism-specific biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
  • Gap junction, conserved biosystem (from KEGG)
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    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • 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)
    Inflammatory mediator regulation of TRP channels, conserved biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
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    Monoamine GPCRs, organism-specific biosystem
    Monoamine GPCRs
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    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
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    Neuroactive ligand-receptor interaction, conserved biosystem
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  • Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystem (from WikiPathways)
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystemThis pathway is courtesy of Ariadne Genomics Pathway Studio.
  • Serotonin Receptor 2 and STAT3 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
 
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 
serotonin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 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
 
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-hydroxytryptamine receptor 2A
5-HT-2A
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 

    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 proteins identical to 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)
    pfam10328
    Location:89207
    7TM_GPCR_Srx; Serpentine type 7TM GPCR chemoreceptor Srx
  2. NM_001165947.2NP_001159419.1  5-hydroxytryptamine receptor 2A isoform 2

    See proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

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

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

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

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    28199237..28264796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)