Gene Gene information from NCBI Gene database.
Entrez ID 3357
Gene name 5-hydroxytryptamine receptor 2B
Gene symbol HTR2B
Synonyms (NCBI Gene)
5-HT(2B)5-HT-2B5-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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
84
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601122 5294 ENSG00000135914
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 481
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Neuroactive ligand-receptor interaction
Gap junction
Serotonergic synapse
Inflammatory mediator regulation of TRP channels
  Serotonin receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bardet-Biedl syndrome Uncertain significance rs564438017 RCV000585784
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 32682418
Breast Neoplasms Associate 37682166
Carcinoma Hepatocellular Associate 23418729
Cardiomyopathy Dilated Stimulate 36472833
Cardiomyopathy Hypertrophic Stimulate 36657118
Congenital myasthenic syndrome ib Associate 33721619
Diabetes Gestational Associate 37480094
Disease Associate 36781042
Glucose Intolerance Associate 37480094
Hypertension Pulmonary Associate 15625277