HTR2A (5-hydroxytryptamine receptor 2A)

Gene

• Entrez ID: 3356
• Gene name: 5-hydroxytryptamine receptor 2A
• Gene symbol: HTR2A
• Synonyms: 5-HT2A, HTR2
• Chromosome: 13
• Chromosome location: 13q14.2
• 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 antidepres

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs7997012	A>C,G,T	Drug-response, benign	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT450850	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT450849	hsa-miR-4251	PAR-CLIP	22100165
MIRT450848	hsa-miR-4329	PAR-CLIP	22100165
MIRT450847	hsa-miR-6761-5p	PAR-CLIP	22100165
MIRT450846	hsa-miR-4303	PAR-CLIP	22100165
MIRT450845	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT450850	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT450849	hsa-miR-4251	PAR-CLIP	22100165
MIRT450848	hsa-miR-4329	PAR-CLIP	22100165
MIRT450847	hsa-miR-6761-5p	PAR-CLIP	22100165
MIRT450846	hsa-miR-4303	PAR-CLIP	22100165
MIRT450845	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT1057200	hsa-miR-1202	CLIP-seq
MIRT1057201	hsa-miR-1257	CLIP-seq
MIRT1057202	hsa-miR-2964a-5p	CLIP-seq
MIRT1057203	hsa-miR-3117-3p	CLIP-seq
MIRT1057204	hsa-miR-3119	CLIP-seq
MIRT1057205	hsa-miR-3169	CLIP-seq
MIRT1057206	hsa-miR-3194-5p	CLIP-seq
MIRT1057207	hsa-miR-34a	CLIP-seq
MIRT1057208	hsa-miR-34c-5p	CLIP-seq
MIRT1057209	hsa-miR-3611	CLIP-seq
MIRT1057210	hsa-miR-3650	CLIP-seq
MIRT1057211	hsa-miR-3677-5p	CLIP-seq
MIRT1057212	hsa-miR-3972	CLIP-seq
MIRT1057213	hsa-miR-4422	CLIP-seq
MIRT1057214	hsa-miR-4460	CLIP-seq
MIRT1057215	hsa-miR-449a	CLIP-seq
MIRT1057216	hsa-miR-449b	CLIP-seq
MIRT1057217	hsa-miR-4727-3p	CLIP-seq
MIRT1057218	hsa-miR-4756-3p	CLIP-seq
MIRT1057219	hsa-miR-4759	CLIP-seq
MIRT1057220	hsa-miR-522	CLIP-seq
MIRT1057221	hsa-miR-676	CLIP-seq
MIRT1057222	hsa-miR-759	CLIP-seq
MIRT2013073	hsa-miR-4698	CLIP-seq
MIRT2245360	hsa-miR-1321	CLIP-seq
MIRT2245361	hsa-miR-140-3p	CLIP-seq
MIRT2245362	hsa-miR-147	CLIP-seq
MIRT2245363	hsa-miR-3137	CLIP-seq
MIRT2245364	hsa-miR-331-3p	CLIP-seq
MIRT2245365	hsa-miR-3649	CLIP-seq
MIRT2245366	hsa-miR-4270	CLIP-seq
MIRT2245367	hsa-miR-4441	CLIP-seq
MIRT2245368	hsa-miR-4739	CLIP-seq
MIRT2245369	hsa-miR-4756-5p	CLIP-seq
MIRT2548588	hsa-miR-1303	CLIP-seq
MIRT2548589	hsa-miR-1322	CLIP-seq
MIRT2548590	hsa-miR-219-5p	CLIP-seq
MIRT2548591	hsa-miR-27a	CLIP-seq
MIRT2548592	hsa-miR-27b	CLIP-seq
MIRT2548593	hsa-miR-302f	CLIP-seq
MIRT2548594	hsa-miR-3120-3p	CLIP-seq
MIRT2548595	hsa-miR-3123	CLIP-seq
MIRT2548596	hsa-miR-3190	CLIP-seq
MIRT2548597	hsa-miR-371b-5p	CLIP-seq
MIRT2548598	hsa-miR-3925-5p	CLIP-seq
MIRT2548599	hsa-miR-4445	CLIP-seq
MIRT2548600	hsa-miR-4473	CLIP-seq
MIRT2548601	hsa-miR-4699-3p	CLIP-seq
MIRT2548602	hsa-miR-4752	CLIP-seq
MIRT2548603	hsa-miR-4782-3p	CLIP-seq
MIRT2548604	hsa-miR-4790-3p	CLIP-seq
MIRT2548605	hsa-miR-499-3p	CLIP-seq
MIRT2548606	hsa-miR-499a-3p	CLIP-seq
MIRT2548607	hsa-miR-508-3p	CLIP-seq
MIRT2548608	hsa-miR-512-3p	CLIP-seq
MIRT2548609	hsa-miR-513a-5p	CLIP-seq
MIRT2548610	hsa-miR-520f	CLIP-seq
MIRT2548611	hsa-miR-642b	CLIP-seq
MIRT2548612	hsa-miR-767-3p	CLIP-seq
MIRT2548613	hsa-miR-875-5p	CLIP-seq
MIRT2548614	hsa-miR-935	CLIP-seq
MIRT2682485	hsa-miR-1306	CLIP-seq
MIRT2548589	hsa-miR-1322	CLIP-seq
MIRT2682486	hsa-miR-1827	CLIP-seq
MIRT2548590	hsa-miR-219-5p	CLIP-seq
MIRT2548591	hsa-miR-27a	CLIP-seq
MIRT2548592	hsa-miR-27b	CLIP-seq
MIRT2548594	hsa-miR-3120-3p	CLIP-seq
MIRT2682487	hsa-miR-3163	CLIP-seq
MIRT2548596	hsa-miR-3190	CLIP-seq
MIRT2682488	hsa-miR-3662	CLIP-seq
MIRT2548597	hsa-miR-371b-5p	CLIP-seq
MIRT2682489	hsa-miR-4436b-5p	CLIP-seq
MIRT2548599	hsa-miR-4445	CLIP-seq
MIRT2548600	hsa-miR-4473	CLIP-seq
MIRT2548601	hsa-miR-4699-3p	CLIP-seq
MIRT2682490	hsa-miR-4735-5p	CLIP-seq
MIRT2548602	hsa-miR-4752	CLIP-seq
MIRT2682491	hsa-miR-4775	CLIP-seq
MIRT2548603	hsa-miR-4782-3p	CLIP-seq
MIRT2548604	hsa-miR-4790-3p	CLIP-seq
MIRT2548605	hsa-miR-499-3p	CLIP-seq
MIRT2548606	hsa-miR-499a-3p	CLIP-seq
MIRT2548607	hsa-miR-508-3p	CLIP-seq
MIRT2548608	hsa-miR-512-3p	CLIP-seq
MIRT2548609	hsa-miR-513a-5p	CLIP-seq
MIRT2548610	hsa-miR-520f	CLIP-seq
MIRT2682492	hsa-miR-590-3p	CLIP-seq
MIRT2548611	hsa-miR-642b	CLIP-seq
MIRT2682493	hsa-miR-659	CLIP-seq
MIRT2548612	hsa-miR-767-3p	CLIP-seq
MIRT2548613	hsa-miR-875-5p	CLIP-seq
MIRT2548614	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001587	Function	Gq/11-coupled serotonin receptor activity	IDA	18703043
GO:0001618	Function	Virus receptor activity	IEA
GO:0001659	Process	Temperature homeostasis	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IBA	21873635
GO:0004993	Function	G protein-coupled serotonin receptor activity	IDA	7582481, 15862800
GO:0005515	Function	Protein binding	IPI	28258217, 28920103, 30157263
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	15862800, 18703043
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005901	Component	Caveola	IEA
GO:0006874	Process	Cellular calcium ion homeostasis	IDA	16517693, 19057895
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA	21873635
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007202	Process	Activation of phospholipase C activity	IDA	16517693
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IEA
GO:0007210	Process	Serotonin receptor signaling pathway	TAS	9109547
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007568	Process	Aging	IEA
GO:0007613	Process	Memory	IEA
GO:0008219	Process	Cell death	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010513	Process	Positive regulation of phosphatidylinositol biosynthetic process	IDA	19057895
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IDA	16517693
GO:0014824	Process	Artery smooth muscle contraction	IEA
GO:0014832	Process	Urinary bladder smooth muscle contraction	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA	21873635
GO:0030431	Process	Sleep	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042493	Process	Response to drug	IBA	21873635
GO:0042493	Process	Response to drug	IDA	15862800
GO:0042802	Function	Identical protein binding	IPI	19279328, 28258217
GO:0043025	Component	Neuronal cell body	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043267	Process	Negative regulation of potassium ion transport	IEA
GO:0043406	Process	Positive regulation of MAP kinase activity	IEA
GO:0044380	Process	Protein localization to cytoskeleton	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0045821	Process	Positive regulation of glycolytic process	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046718	Process	Viral entry into host cell	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA	21873635
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	15862800
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	18703043
GO:0051378	Function	Serotonin binding	IDA	7582481, 15831837, 15862800, 18703043, 19057895
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	19057895
GO:0070852	Component	Cell body fiber	IEA
GO:0071886	Function	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding	IDA	19057895
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IDA	18703043
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IMP	18703043
GO:0098666	Component	G protein-coupled serotonin receptor complex	IDA	18703043
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099055	Component	Integral component of postsynaptic membrane	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 182135
• HGNC: 5293
• e!Ensembl: ENSG00000102468

Protein

• UniProt ID: P28223
• Protein name: 5-hydroxytryptamine receptor 2A (5-HT-2) (5-HT-2A) (Serotonin receptor 2A)
• Protein function: G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:1330647, PubMed:18703043, PubMed:19057895, PubMed:21645528, PubMed:22300836, PubMed:35084960, PubMed:38552625). Also functions as a receptor for various drugs and psychoactiv
• PDB: 6A93, 6A94, 6WGT, 6WH4, 6WHA, 7RAN, 7VOD, 7VOE, 7WC4, 7WC5, 7WC6, 7WC7, 7WC8, 7WC9, 8JT8, 8UWL, 8V6U, 8ZMG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	91 → 380	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MDILCEENTSLSSTTNSLMQLNDDTRLYSNDFNSGEANTSDAFNWTVDSENRTNLSCEGC
  LSPSCLSLLHLQEKNWSALLTAVVIILTIAGNILVIMAVSLEKKLQNATNYFLMSLAIAD
  MLLGFLVMPVSMLTILYGYRWPLPSKLCAVWIYLDVLFSTASIMHLCAISLDRYVAIQNP
  IHHSRFNSRTKAFLKIIAVWTISVGISMPIPVFGLQDDSKVFKEGSCLLADDNFVLIGSF
  VSFFIPLTIMVITYFLTIKSLQKEATLCVSDLGTRAKLASFSFLPQSSLSSEKLFQRSIH
  REPGSYTGRRTMQSISNEQKACKVLGIVFFLFVVMWCPFFITNIMAVICKESCNEDVIGA
  LLNVFVWIGYLSSAVNPLVYTLFNKTYRSAFSRYIQCQYKENKKPLQLILVNTIPALAYK
  SSQLQMGQKKNSKQDAKTTDNDCSMVALGKQHSEEASKDNSDGVNEKVSCV

• Sequence length: 471

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction
Gap junction
Serotonergic synapse
Inflammatory mediator regulation of TRP channels

Reactome:

Serotonin receptors
G alpha (q) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	17280648
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	22048642
Migraine	Cervical Migraine Syndrome, Migraine Disorders	rs794727411	12482207
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	17097612
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	14708030, 18513383

Unknown
Disease name	Disease term	dbSNP ID	References
Abdominal migraine	Abdominal Migraine		12482207
Anorexia	Anorexia Nervosa
Anxiety disorder	Anxiety
Ballismus	Ballismus		11526996
Basal ganglia diseases	Basal Ganglia Diseases		18480698
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		23404241, 22564712, 24962835, 21550210, 14708030, 25043477, 14708030
Compulsive hoarding	Compulsive hoarding
Confusional migraine	Acute Confusional Migraine		12482207
Delusions	Delusions
Drachtman weinblatt sitarz syndrome	Congenital neurologic anomalies
Dyskinetic syndrome	Dyskinetic syndrome		11526996
Extrapyramidal disease	Extrapyramidal Disorders		18480698
Hallucinations	Hallucinations
Hemiballismus	Hemiballismus		11526996
Hemicrania migraine	Hemicrania migraine		12482207
Involutional depression	Involutional Depression
Involutional paraphrenia	Involutional paraphrenia
Lenticulostriate disorders	Lenticulostriate Disorders		18480698
Orofacial dyskinesia	Lingual-Facial-Buccal Dyskinesia		11526996
Manic disorder	Manic, Manic Disorder		14708030
Mental depression	Mental Depression, Depressive disorder, Major depression, single episode, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	25106036, 24314147, 23537781, 23973249, 23158458, 24314147, 23158458, 25106036, 23973249, 24411530, 19758789, 24801750, 24962835, 25270656, 22612784, 25108775, 25270656, 24962835, 25108775, 24801750, 22612784
Mental depression with psychotic features	Severe major depression with psychotic features		23221997
Metabolic diseases	Metabolic Diseases	rs267607648	19142110
Mood disorder	Mood Disorders		22558144, 19381154, 19361869, 19584773, 20826676
Obsessive-compulsive disorder	Obsessive-Compulsive Disorder		19644229
Oral dyskinesia	Oral Dyskinesia		11526996
Psychosis	Psychosis, Brief Reactive, Psychotic Disorders, Psychosis, Involutional		14708030
Schizoaffective disorder	Schizoaffective Disorder		14708030
Schizophreniform disorders	Schizophreniform Disorders		14708030
Seasonal affective disorder	Seasonal Affective Disorder		16899354, 11735319, 12167522, 11244145, 20580209
Skin-picking	Skin-picking
Status migrainosus	Status Migrainosus		12482207