HTR2B (5-hydroxytryptamine receptor 2B)

Gene

• Entrez ID: 3357
• Gene name: 5-hydroxytryptamine receptor 2B
• Gene symbol: HTR2B
• Synonyms (NCBI Gene): 5-HT(2B), 5-HT-2B, 5-HT2B
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001587	Function	Gq/11-coupled serotonin receptor activity	IDA	18703043, 30127358, 36087581
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001755	Process	Neural crest cell migration	ISS
GO:0001819	Process	Positive regulation of cytokine production	IDA	19023134
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001819	Process	Positive regulation of cytokine production	ISS
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IMP	19308295
GO:0001965	Function	G-protein alpha-subunit binding	IMP	15625277
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	ISS
GO:0003300	Process	Cardiac muscle hypertrophy	IEA
GO:0003300	Process	Cardiac muscle hypertrophy	ISS
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IBA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IDA	7582481, 7926008, 12970106, 15862800
GO:0004993	Function	G protein-coupled serotonin receptor activity	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IMP	15625277
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	ISS
GO:0005515	Function	Protein binding	IPI	28258217
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	15925089
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	7926008, 12970106, 15625277, 15862800, 18703043, 19023134
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	19057895
GO:0006939	Process	Smooth muscle contraction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IMP	15625277
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IBA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218, 37991948
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	12970106, 30127358, 36087581
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IEA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IMP	20099302
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	ISS
GO:0007210	Process	Serotonin receptor signaling pathway	IBA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15625277
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	15925089
GO:0009410	Process	Response to xenobiotic stimulus	IDA	15862800
GO:0010513	Process	Positive regulation of phosphatidylinositol biosynthetic process	IDA	19057895
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0014033	Process	Neural crest cell differentiation	ISS
GO:0014827	Process	Intestine smooth muscle contraction	IMP	7599919, 9186750
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IMP	8882600
GO:0019934	Process	CGMP-mediated signaling	IDA	12970106
GO:0030425	Component	Dendrite	IBA
GO:0030594	Function	Neurotransmitter receptor activity	IBA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042310	Process	Vasoconstriction	IMP	15625277
GO:0043005	Component	Neuron projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	12761501
GO:0045202	Component	Synapse	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048598	Process	Embryonic morphogenesis	ISS
GO:0050795	Process	Regulation of behavior	IEA
GO:0050795	Process	Regulation of behavior	IMP	21179162
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	15862800
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	8882600, 18566482, 18703043
GO:0051378	Function	Serotonin binding	IDA	7582481, 7926008, 12970106, 15625277, 15831837, 15862800, 17609583, 18703043, 19057895, 19307114
GO:0051378	Function	Serotonin binding	IEA
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051781	Process	Positive regulation of cell division	ISS
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IMP	19308295
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	19057895
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IDA	7926008, 16517693, 19057895
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IMP	18703043
GO:0098666	Component	G protein-coupled serotonin receptor complex	IDA	7926008, 12970106, 15862800, 18703043
GO:0098666	Component	G protein-coupled serotonin receptor complex	IEA
GO:0098666	Component	G protein-coupled serotonin receptor complex	IMP	15625277
GO:0099589	Function	Serotonin receptor activity	IDA	30127358, 36087581
GO:0099589	Function	Serotonin receptor activity	IEA

Other IDs

• MIM: 601122
• HGNC: 5294
• e!Ensembl: ENSG00000135914

Protein

• UniProt ID: P41595
• Protein name: 5-hydroxytryptamine receptor 2B (5-HT-2B) (5-HT2B) (Serotonin receptor 2B)
• Protein function: G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:18703043, PubMed:23519210, PubMed:7926008, PubMed:8078486, PubMed:8143856, PubMed:8882600). Also functions as a receptor for various ergot alkaloid derivatives and psychoacti
• PDB: 4IB4, 4NC3, 5TUD, 5TVN, 6DRX, 6DRY, 6DRZ, 6DS0, 7SRQ, 7SRR, 7SRS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	71 → 380	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Detected in liver, kidney, heart, pulmonary artery, and intestine. Detected at lower levels in blood, placenta and brain, especially in cerebellum, occipital cortex and frontal cortex. {ECO:0000269|PubMed:21179162, ECO:0000
• Sequence:

  MALSYRVSELQSTIPEHILQSTFVHVISSNWSGLQTESIPEEMKQIVEEQGNKLHWAALL
  ILMVIIPTIGGNTLVILAVSLEKKLQYATNYFLMSLAVADLLVGLFVMPIALLTIMFEAM
  WPLPLVLCPAWLFLDVLFSTASIMHLCAISVDRYIAIKKPIQANQYNSRATAFIKITVVW
  LISIGIAIPVPIKGIETDVDNPNNITCVLTKERFGDFMLFGSLAAFFTPLAIMIVTYFLT
  IHALQKKAYLVKNKPPQRLTWLTVSTVFQRDETPCSSPEKVAMLDGSRKDKALPNSGDET
  LMRRTSTIGKKSVQTISNEQRASKVLGIVFFLFLLMWCPFFITNITLVLCDSCNQTTLQM
  LLEIFVWIGYVSSGVNPLVYTLFNKTFRDAFGRYITCNYRATKSVKTLRKRSSKIYFRNP
  MAENSKFFKKHGIRNGINPAMYQSPMRLRSSTIQSSSIILLDTLLLTENEGDKTEEQVSY
  V

• Sequence length: 481

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Bardet-Biedl syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anorexia	Anorexia	BEFREE	16960982		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	27420381		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32682418	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37682166	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23418729	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36472833	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36657118	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27013593		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31787571		★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	19455600		★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	33721619	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	19023134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Gestational	Gestational diabetes	Pubtator	37480094	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27986565		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	22917605		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	19023134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	19023134		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	26583148		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	10617681, 11104741, 16141947, 19505264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	BEFREE	27420381		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	15625277	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11378296, 12244304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	8627522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	34472367	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	14659797, 22186990		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	14659797		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24887447		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	11877320		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	LHGDN	11877320		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	17936780		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	19023134		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19308295		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31478179		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19455600		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	19023134		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28315323		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17236194, 21836641, 27420381		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	10722792		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	17236194		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	22186990		★☆☆☆☆ Found in Text Mining only
Pulmonary Veno-Occlusive Disease (disorder)	Pulmonary venoocclusive disease	BEFREE	15059929		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	BEFREE	26583148		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30409162		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	24597767, 30347896, 35163491, 37725244	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29696577, 30347896, 31002821		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	36781042	Associate	★☆☆☆☆ Found in Text Mining only