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

    Gene ID: 3358, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:5295
    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
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    Genomic context

    See HTR2C in Genome Data Viewer
    Location:
    Xq23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (114584086..114910061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (112992593..113318748)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (113818559..114144624)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TNPO3 pseudogene 1 Neighboring gene SSU72 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:113685459-113686356 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:113700885-113701440 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:113836715-113837329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:113818053-113818558 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:113835484-113836099 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:113841219-113842104 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 H3K4me1 hESC enhancer GRCh37_chrX:113934941-113935442 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 MED14-independent group 3 enhancer GRCh37_chrX:114140926-114142125 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 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 PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  
    involved_in G protein-coupled serotonin receptor signaling pathway PubMed 
    involved_in behavioral fear response  
    involved_in cGMP-mediated signaling PubMed 
    involved_in chemical synaptic transmission  
    involved_in feeding behavior  
    involved_in intracellular calcium ion homeostasis PubMed 
    involved_in locomotory behavior  
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway  
    involved_in phospholipase C-activating serotonin receptor signaling pathway  
    involved_in phospholipase C-activating serotonin receptor signaling pathway PubMed 
    involved_in phospholipase C-activating serotonin receptor signaling pathway  
    involved_in positive regulation of ERK1 and ERK2 cascade PubMed 
    involved_in positive regulation of calcium-mediated signaling  
    involved_in positive regulation of fat cell differentiation  
    involved_in positive regulation of phosphatidylinositol biosynthetic process PubMed 
    involved_in regulation of appetite  
    involved_in regulation of corticotropin-releasing hormone secretion  
    involved_in regulation of nervous system process  
    involved_in release of sequestered calcium ion into cytosol  
    involved_in release of sequestered calcium ion into cytosol PubMed 
    involved_in serotonin receptor signaling pathway  
    Component Evidence Code Pubs
    part_of G protein-coupled serotonin receptor complex PubMed 
    is_active_in dendrite  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in synapse  

    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)

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    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_012082.3 RefSeqGene

      Range
      5002..330977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1009

    mRNA and Protein(s)

    1. NM_000868.4NP_000859.2  5-hydroxytryptamine receptor 2C isoform a precursor

      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, AL355812, AL590097
      Consensus CDS
      CCDS14564.1
      UniProtKB/Swiss-Prot
      B1AMW4, P28335, Q5VUF8, Q9NP28
      Related
      ENSP00000276198.1, ENST00000276198.6
      Conserved Domains (1) summary
      cd15305
      Location:54385
      7tmA_5-HT2C; serotonin receptor subtype 2C, member of the class A family of seven-transmembrane G protein-coupled receptors
    2. NM_001256760.3NP_001243689.2  5-hydroxytryptamine receptor 2C isoform a precursor

      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, AL355812, AL590097
      Consensus CDS
      CCDS14564.1
      UniProtKB/Swiss-Prot
      B1AMW4, P28335, Q5VUF8, Q9NP28
      Related
      ENSP00000361019.1, ENST00000371951.5
      Conserved Domains (1) summary
      cd15305
      Location:54385
      7tmA_5-HT2C; serotonin receptor subtype 2C, member of the class A family of seven-transmembrane G protein-coupled receptors
    3. NM_001256761.3NP_001243690.2  5-hydroxytryptamine receptor 2C isoform b precursor

      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, AL355812, AL590097
      Consensus CDS
      CCDS59174.1
      UniProtKB/TrEMBL
      K9J958
      Related
      ENSP00000361018.3, ENST00000371950.3
      Conserved Domains (2) summary
      cd14964
      Location:5581
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:54155
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      114584086..114910061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      112992593..113318748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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