AutismKB 2.0

Annotation Details for HTR2C


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Basic Information Top
Gene Symbol:HTR2C ( 5-HT2C,5-HTR2C,HTR1C )
Gene Full Name: 5-hydroxytryptamine (serotonin) receptor 2C
Band: Xq23
Quick LinksEntrez ID:3358; OMIM: 312861; Uniprot ID:5HT2C_HUMAN; ENSEMBL ID: ENSG00000147246; HGNC ID: 5295
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IDA-plasma membrane12970106
GO:0005886TAS-plasma membrane-
GO:0005887IMP-integral component of plasma membrane18703043
GO ID Evidence Qualifier GO_term References
GO:0001587IDA-Gq/11-coupled serotonin receptor activity18703043
GO:0004993IDA-G-protein coupled serotonin receptor activity7582481
GO:0008144IDA-drug binding12970106
GO:0030594IBA-neurotransmitter receptor activity-
GO:0051378IDA-serotonin binding7582481
GO:0071886IDA-1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding19057895
GO ID Evidence Qualifier GO_term References
GO:0001662ISS-behavioral fear response-
GO:0006182IDA-cGMP biosynthetic process12970106
GO:0006874IDA-cellular calcium ion homeostasis19057895
GO:0007200IDA-phospholipase C-activating G-protein coupled receptor signaling pathway12970106
GO:0007208ISS-phospholipase C-activating serotonin receptor signaling pathway-
GO:0007210IMP-serotonin receptor signaling pathway18703043
GO:0007268TAS-chemical synaptic transmission9241279
GO:0007626IEA-locomotory behavior-
GO:0007631ISS-feeding behavior-
GO:0010513IDA-positive regulation of phosphatidylinositol biosynthetic process19057895
GO:0031644ISS-regulation of neurological system process-
GO:0032098ISS-regulation of appetite-
GO:0042493IDA-response to drug18703043
GO:0043397ISS-regulation of corticotropin-releasing hormone secretion-
GO:0045600IEA-positive regulation of fat cell differentiation-
GO:0051209IMP-release of sequestered calcium ion into cytosol18703043
GO:0051482ISS-positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway-
GO:0070374IDA-positive regulation of ERK1 and ERK2 cascade19057895
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HTR2CAPBA110959012006486 Reconstituted Complex
HTR2CAPBA110681712006486 Reconstituted Complex
HTR2CDLG410959012006486 Reconstituted Complex
HTR2CDLG410808612006486 Reconstituted Complex
MPDZHTR2C1095909537516 11150294 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MPDZHTR2C1143079537516 11150294 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
LIN7CHTR2C12060812006486 Reconstituted Complex
LIN7CHTR2C10959012006486 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
HTR2CCys23Ser Gene overview in AlzGene
No data
Gene Symbol Poly Names Gene overview in SZGene
HTR2CHTR2C_C759T, HTR2C_G68C, rs3813928, rs498207, rs521018, rs6318 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:96281
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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