Gene Gene information from NCBI Gene database.
Entrez ID 3358
Gene name 5-hydroxytryptamine receptor 2C
Gene symbol HTR2C
Synonyms (NCBI Gene)
5-HT1C5-HT2C5-HTR2C5HTR2CHTR1C
Chromosome X
Chromosome location Xq23
Summary This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1414334 C>G Drug-response, benign Intron variant
rs3813929 C>G,T Drug-response Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
38
miRTarBase ID miRNA Experiments Reference
MIRT005901 hsa-miR-22-3p Luciferase reporter assayMicroarray 21168126
MIRT1057223 hsa-miR-1324 CLIP-seq
MIRT1057224 hsa-miR-3120-3p CLIP-seq
MIRT1057225 hsa-miR-323-3p CLIP-seq
MIRT1057226 hsa-miR-3529 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0001587 Function Gq/11-coupled serotonin receptor activity IDA 18703043, 29398112
GO:0001662 Process Behavioral fear response IEA
GO:0001662 Process Behavioral fear response ISS
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004993 Function G protein-coupled serotonin receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
312861 5295 ENSG00000147246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28335
Protein name 5-hydroxytryptamine receptor 2C (5-HT-2C) (5-HT2C) (5-HTR2C) (5-hydroxytryptamine receptor 1C) (5-HT-1C) (5-HT1C) (Serotonin receptor 2C)
Protein function G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:12970106, PubMed:18703043, PubMed:19057895, PubMed:29398112, PubMed:7895773). Also functions as a receptor for various drugs and psychoactive substances, including ergot alka
PDB 6BQG , 6BQH , 8DPF , 8DPG , 8DPH , 8DPI , 8ZMF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 70 368 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain. {ECO:0000269|PubMed:8812491}.
Sequence
Sequence length 458
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.).
21
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
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER 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
Alzheimer Disease Alzheimer disease Pubtator 22766135, 26303700 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 9700207
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 10624828, 12858032, 30554102
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia LHGDN 12858032
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 11287788, 15313842, 18772038, 23247076, 29545208, 30685402
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 11287788, 15313842, 18772038, 23247076, 29545208, 30685402
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 37238670 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 24386118 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 14574222, 16741915, 16959425, 30074224
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 21186965 Associate
★☆☆☆☆
Found in Text Mining only