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FLASH GENE
Symbol CHRND contributors: mct - updated : 12-01-2016
HGNC name cholinergic receptor, nicotinic, delta
HGNC id 1965
Corresponding disease
CMS3A congenital myasthenic syndrome, type III A
MPTLT4 multiple pterygium syndrome, lethal type 4
Location 2q37.1      Physical location : 233.390.921 - 233.400.204
Synonym name acetylcholine receptor, delta polypeptide
Synonym symbol(s) ACHRD, CMS2A, FCCMS, SCCMS
DNA
TYPE functioning gene
STRUCTURE 10.50 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 2963 - 517 - 1990 2221824
11 - 2918 - 502 - 1990 2221824
- - 2652 - 323 - 1990 2221824
- - 2931 - 416 - 1990 2221824
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal predominantly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal extracellular domain
  • four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore
  • HOMOLOGY
    Homologene
    FAMILY cholinergic receptor family, ligand-gated ionic channel (tc 1.a.9) family
    CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    text postsynaptic membrane
    basic FUNCTION
  • after binding acetylcholine, involved in opening of an ion-conducting channel across the plasma membrane (through an extensive change in conformation that affects all
  • subunits)
  • having a special role in AChR-rapsyn interactions
  • CHRNB/CHRND subunit cytoplasmic loops regulate Golgi to surface trafficking
  • CHRND is likely contained in synapses of both slow and fast muscle fibers
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAS/RAF/MEK/ERK pathway may be involved in bone marrow-derived mesenchymal stem cells (BMSCs) -induced expression of CHRND
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS3A , MPTLT4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS