Description: Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled (HTR2A), transcript variant 1, mRNA. RefSeq Summary (NM_000621): 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]. Transcript (Including UTRs) Position: hg19 chr13:47,405,677-47,471,211 Size: 65,535 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr13:47,408,972-47,470,041 Size: 61,070 Coding Exon Count: 3
ID:5HT2A_HUMAN DESCRIPTION: RecName: Full=5-hydroxytryptamine receptor 2A; Short=5-HT-2; Short=5-HT-2A; AltName: Full=Serotonin receptor 2A; FUNCTION: This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. This receptor is involved in tracheal smooth muscle contraction, bronchoconstriction, and control of aldosterone production. SUBUNIT: Interacts with MPDZ and INADL. May interact with MPP3, PRDX6, DLG4, DLG1, CASK, APBA1 and MAGI2. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity). Note=Localizes to the postsynaptic thickening of axo-dendritic synapses (By similarity). DOMAIN: The PDZ domain-binding motif is involved in the interaction with INADL, CASK, APBA1, DLG1 and DLG4. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HTR2A";
P F C Jobim , et al. Brazilian journal of medical and biological research , The polymorphism of the serotonin-2A receptor T102C is associated with age., Brazilian journal of medical and biological research .
[PubMed 19037529]
ADHD Li J et al. 2002, Association of 5-HT(2A) receptor polymorphism and attention deficit hyperactivity disorder in children, Zhonghua yi xue za zhi. 2002 Sep;82(17):1173-6.
[PubMed 12475403]
For the ADHD combined subtype, the T102T genotype is a protective factor and the T102C genotype is a risk factor. For the girl with ADHD combined subtype, the allele C102 is a disease-predisposing gene.
ADHD Levitan RD et al. 2002, Polymorphism of the serotonin-2A receptor gene (HTR2A) associated with childhood attention deficit hyperactivity disorder (ADHD) in adult women with seasonal affective disorder., Journal of affective disorders. 2002 Sep;71(3-Jan):229-33.
[PubMed 12167522]
These preliminary results suggest a possible association between variation in HTR2A, childhood ADHD, and the later development of SAD in women.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 81321 - Family A G protein-coupled receptor-like
ModBase Predicted Comparative 3D Structure on P28223
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001659 temperature homeostasis GO:0006874 cellular calcium ion homeostasis GO:0007165 signal transduction GO:0007186 G-protein coupled receptor signaling pathway GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007202 activation of phospholipase C activity GO:0007204 positive regulation of cytosolic calcium ion concentration GO:0007208 phospholipase C-activating serotonin receptor signaling pathway GO:0007210 serotonin receptor signaling pathway GO:0007268 chemical synaptic transmission GO:0007568 aging GO:0007610 behavior GO:0007613 memory GO:0008219 cell death GO:0008284 positive regulation of cell proliferation GO:0010513 positive regulation of phosphatidylinositol biosynthetic process GO:0014059 regulation of dopamine secretion GO:0014065 phosphatidylinositol 3-kinase signaling GO:0014824 artery smooth muscle contraction GO:0014832 urinary bladder smooth muscle contraction GO:0016032 viral process GO:0019233 sensory perception of pain GO:0030431 sleep GO:0033674 positive regulation of kinase activity GO:0042493 response to drug GO:0043267 negative regulation of potassium ion transport GO:0043406 positive regulation of MAP kinase activity GO:0044380 protein localization to cytoskeleton GO:0045600 positive regulation of fat cell differentiation GO:0045821 positive regulation of glycolytic process GO:0045907 positive regulation of vasoconstriction GO:0046718 viral entry into host cell GO:0048148 behavioral response to cocaine GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation GO:0050965 detection of temperature stimulus involved in sensory perception of pain GO:0050966 detection of mechanical stimulus involved in sensory perception of pain GO:0051209 release of sequestered calcium ion into cytosol GO:0051967 negative regulation of synaptic transmission, glutamatergic GO:0070374 positive regulation of ERK1 and ERK2 cascade
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
