Gene Gene information from NCBI Gene database.
Entrez ID 3356
Gene name 5-hydroxytryptamine receptor 2A
Gene symbol HTR2A
Synonyms (NCBI Gene)
5-HT2AHTR2
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 information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs7997012 A>C,G,T Drug-response, benign Intron variant
miRNA miRNA information provided by mirtarbase database.
105
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
89
GO ID Ontology Definition Evidence Reference
GO:0001587 Function Gq/11-coupled serotonin receptor activity IDA 18703043, 35084960
GO:0001618 Function Virus receptor activity IEA
GO:0001659 Process Temperature homeostasis IEA
GO:0002720 Process Positive regulation of cytokine production involved in immune response IEA
GO:0004930 Function G protein-coupled receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182135 5293 ENSG00000102468
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Detected in brain cortex (at protein level). Detected in blood platelets. {ECO:0000269|PubMed:18297054}.
Sequence
Sequence length 471
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
48
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abdominal Migraine Abdominal Migraine CTD_human_DG 12482207
★☆☆☆☆
Found in Text Mining only
Acute Confusional Migraine Confusional Migraine CTD_human_DG 12482207
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 16640790, 17525976, 26303700, 34336000 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 31111219
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 9700207
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 20413853
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia BEFREE 17804117
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 10624828, 11134666, 11239910, 11702058, 11803452, 12231269, 15167698, 16397402, 18855537, 19863848, 20545463, 9601682
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia LHGDN 11803452, 12231269
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 16087994, 20545463 Associate
★☆☆☆☆
Found in Text Mining only