Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3358
Gene name Gene Name - the full gene name approved by the HGNC.
5-hydroxytryptamine receptor 2C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HTR2C
Synonyms (NCBI Gene) Gene synonyms aliases
5-HT1C, 5-HT2C, 5-HTR2C, 5HTR2C, HTR1C
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005901 hsa-miR-22-3p Luciferase reporter assay, Microarray 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001587 Function Gq/11-coupled serotonin receptor activity IDA 18703043
GO:0001662 Process Behavioral fear response ISS
GO:0004993 Function G protein-coupled serotonin receptor activity IBA 21873635
GO:0004993 Function G protein-coupled serotonin receptor activity IDA 7582481, 12970106
GO:0005515 Function Protein binding IPI 15518545, 23345234, 25770211, 28258217, 28514442, 30157263, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
312861 5295 ENSG00000147246
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Metabolic syndrome Metabolic Syndrome X rs367643250, rs587777380, rs777736953 19142101, 18515891, 17632216
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
17702092, 19142110
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
20195292, 22967772, 21185157, 22404657
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder 23719026, 24770757, 23049953, 20624407, 23583320, 24781207, 22404657, 23765961, 20015120, 20065966 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 22766135, 26303700
Asthma Associate 37238670
Atherosclerosis Associate 24386118
Autism Spectrum Disorder Associate 21186965
Avoidant Restrictive Food Intake Disorder Associate 35700837
Bipolar Disorder Associate 20015120, 28174802
Cardiovascular Diseases Associate 21967853, 24386118
Cognition Disorders Associate 22766135, 29924134
Coronary Artery Disease Associate 24386118
Death Associate 24386118