AutismKB 2.0

Annotation Details for CHRND


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Basic Information Top
Gene Symbol:CHRND ( ACHRD,CMS2A,FCCMS,SCCMS )
Gene Full Name: cholinergic receptor, nicotinic, delta
Band: 2q37.1
Quick LinksEntrez ID:1144; OMIM: 100720; Uniprot ID:ACHD_HUMAN; ENSEMBL ID: ENSG00000135902; HGNC ID: 1965
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005892IBA-acetylcholine-gated channel complex-
GO:0030054IEA-cell junction-
GO:0045211NAS-postsynaptic membrane18252226
GO ID Evidence Qualifier GO_term References
GO:0015276TAS-ligand-gated ion channel activity-
GO:0022848IBAcontributes_toacetylcholine-gated cation-selective channel activity-
GO:0042166IBAcontributes_toacetylcholine binding-
GO ID Evidence Qualifier GO_term References
GO:0003009IEA-skeletal muscle contraction-
GO:0006810TAS-transport8872460
GO:0006936TAS-muscle contraction8872460
GO:0007165TAS-signal transduction8872460
GO:0007271IBA-synaptic transmission, cholinergic-
GO:0007274IBA-neuromuscular synaptic transmission-
GO:0035094IBA-response to nicotine-
GO:0048630IMP-skeletal muscle tissue growth18252226
GO:0050881IMP-musculoskeletal movement18252226
GO:0050905NAS-neuromuscular process18252226
GO:0060079IEA-excitatory postsynaptic potential-
GO:0098655IBA-cation transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CHRNDCHRNA11075567695910 8910344 Co-fractionation; Reconstituted Complex
CHRNDCHRNA11075667695910 8910344 Co-fractionation; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:87893
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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