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HTR2C 5-hydroxytryptamine receptor 2C [ Homo sapiens (human) ]

Gene ID: 3358, updated on 10-Oct-2019

Summary

Official Symbol
HTR2Cprovided by HGNC
Official Full Name
5-hydroxytryptamine receptor 2Cprovided by HGNC
Primary source
HGNC:HGNC:5295
See related
Ensembl:ENSG00000147246 MIM:312861
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTR1C; 5-HT1C; 5-HT2C; 5HTR2C; 5-HTR2C
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 genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]
Expression
Restricted expression toward brain (RPKM 1.3) See more
Orthologs

Genomic context

See HTR2C in Genome Data Viewer
Location:
Xq23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (114584078..114910061)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (113818551..114144624)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene transportin 3 pseudogene Neighboring gene SSU72 pseudogene 1 Neighboring gene ribosomal protein L36a pseudogene 53 Neighboring gene small nucleolar RNA, H/ACA box 35 Neighboring gene microRNA 764 Neighboring gene microRNA 1912 Neighboring gene microRNA 1264 Neighboring gene uncharacterized LOC105373313 Neighboring gene microRNA 1298 Neighboring gene microRNA 1911 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 7 Neighboring gene microRNA 448 Neighboring gene RNA, U6 small nuclear 648, pseudogene Neighboring gene interleukin 13 receptor subunit alpha 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Amine ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Amine ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to classical biogenic amine ligands are annotated here. The amines involved (acetylcholine, adrenaline, noradrenaline, dopamine, serotonin and histamine)...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • Gap junction, organism-specific biosystem (from KEGG)
    Gap junction, organism-specific biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
  • Gap junction, conserved biosystem (from KEGG)
    Gap junction, conserved biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Inflammatory mediator regulation of TRP channels, organism-specific biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, organism-specific biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • Inflammatory mediator regulation of TRP channels, conserved biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, conserved biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • Monoamine GPCRs, organism-specific biosystem (from WikiPathways)
    Monoamine GPCRs, organism-specific biosystem
    Monoamine GPCRs
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Serotonergic synapse, organism-specific biosystem (from KEGG)
    Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
  • Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystem (from WikiPathways)
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystemThis pathway is courtesy of Ariadne Genomics Pathway Studio.
  • Serotonin receptors, organism-specific biosystem (from REACTOME)
    Serotonin receptors, organism-specific biosystemSerotonin (5-HT) is a monoamine neurotransmitter that plays an important role as a modulator of anger, aggression, body temperature, mood, sleep, sexuality, appetite, metabolism, as well as stimulati...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding IDA
Inferred from Direct Assay
more info
PubMed 
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Gq/11-coupled serotonin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
drug binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serotonin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
behavioral fear response ISS
Inferred from Sequence or Structural Similarity
more info
 
cGMP-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
feeding behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
phospholipase C-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipase C-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
phospholipase C-activating serotonin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of appetite ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of corticotropin-releasing hormone secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neurological system process ISS
Inferred from Sequence or Structural Similarity
more info
 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug IDA
Inferred from Direct Assay
more info
PubMed 
serotonin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
5-hydroxytryptamine receptor 2C
Names
5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
5-hydroxytryptamine receptor 1C
serotonin 5-HT-1C receptor
serotonin 5-HT-2C receptor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012082.2 RefSeqGene

    Range
    4994..330977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000868.3NP_000859.1  5-hydroxytryptamine receptor 2C isoform a precursor

    See identical proteins and their annotated locations for NP_000859.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a). This variant may undergo RNA editing.
    Source sequence(s)
    AC233299, BC028688, U49516
    Consensus CDS
    CCDS14564.1
    UniProtKB/Swiss-Prot
    P28335
    Related
    ENSP00000276198.1, ENST00000276198.6
    Conserved Domains (2) summary
    cd14964
    Location:5680
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:54385
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. NM_001256760.2NP_001243689.1  5-hydroxytryptamine receptor 2C isoform a precursor

    See identical proteins and their annotated locations for NP_001243689.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a). This variant may undergo RNA editing.
    Source sequence(s)
    AC233299, BX648587, M81778, U49516
    Consensus CDS
    CCDS14564.1
    UniProtKB/Swiss-Prot
    P28335
    Related
    ENSP00000361019.1, ENST00000371951.5
    Conserved Domains (2) summary
    cd14964
    Location:5680
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:54385
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  3. NM_001256761.2NP_001243690.1  5-hydroxytryptamine receptor 2C isoform b precursor

    See identical proteins and their annotated locations for NP_001243690.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as 5-HT2C-tr) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC233299, AK295753, BX648587, U49516
    Consensus CDS
    CCDS59174.1
    UniProtKB/Swiss-Prot
    P28335
    UniProtKB/TrEMBL
    K9J958
    Related
    ENSP00000361018.3, ENST00000371950.3
    Conserved Domains (1) summary
    cl21561
    Location:73154
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    114584078..114910061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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