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FLASH GENE
Symbol CHRNE contributors: - updated : 05-03-2007
HGNC name cholinergic receptor, nicotinic, epsilon
HGNC id 1966
Corresponding disease
CMS2E congenital myasthenic syndrome, type IIE
Location 17p13.1      Physical location : 4.801.063 - 4.806.369
Synonym name
  • acetylcholine receptor protein, epsilon chain precursor
  • cholinergic receptor, nicotinic, epsilon polypeptide
  • Synonym symbol(s) ACHRE, FCCMS, SCCMS
    DNA
    TYPE functioning gene
    STRUCTURE 5.00 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status provisional
    Map pter - D17S5 - CHRNE - D17S31 - CHRNB1 - TP53 - D17S122 - D17S71 - cen
    Authors Lobos (93)
    Physical map
    FLJ90165 17p13.3 hypothetical protein FLJ90165 LOC124974 17p13.3 thioredoxin 1 pseudogene 4 FLJ42461 17p13.3 FLJ42461 protein ALOX15 17p13.1 arachidonate 15-lipoxygenase PELP1 17p13.3 arachidonate 15-lipoxygenase LOC390758 17 similar to 40S RIBOSOMAL PROTEIN S12 ARRB2 17p13 arrestin, beta 2 CXCL16 17p13 chemokine (C-X-C motif) ligand 16 LOC388322 17 similar to HSPC296 ZMYND15 17p13.3 zinc finger, MYND domain containing 15 TM4SF5 17p13.3 transmembrane 4 superfamily member 5 LOC284013 17p13.3 secretory protein LOC284013 LOC388323 17 similar to RIKEN cDNA C730027E14 PSMB6 17p13 proteasome (prosome, macropain) subunit, beta type, 6 PLD2 17p13.1 phospholipase D2 LOC284015 17p13.3 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit MINK 17p13 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit CHRNE 17p13.1 cholinergic receptor, nicotinic, epsilon polypeptide GP1BA 17pter-p12 glycoprotein Ib (platelet), alpha polypeptide SLC25A11 17p13.3 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 DKFZP566H073 17p13.3 DKFZP566H073 protein PFN1 17p13.3 profilin 1 ENO3 17pter-p12 enolase 3, (beta, muscle) SPAG7 17p13.2 sperm associated antigen 7 CAMTA2 17p13.3 calmodulin binding transcription activator 2 LOC388324 17 LOC388324 KIF1C 17p13 kinesin family member 1C FLJ10060 17p13.3 putative G-protein coupled receptor GPCR42 FLJ30726 17p13.3 hypothetical protein FLJ30726 ZNF232 17p13-p12 zinc finger protein 232 USP6 17q11 ubiquitin specific protease 6 (Tre-2 oncogene) KIAA1871 17p13 KIAA1871 protein LOC388325 17 similar to DTFT5783
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text umbilical cord
    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
  • mono polymer pentamer
    HOMOLOGY
    interspecies homolog to murine Chrne
    Homologene
    FAMILY
  • cholinergic receptor family
  • ligand gated ion channel family
  • CATEGORY receptor membrane ligand ion channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • cholinergic receptor, nicotinic
  • mediating synaptic transmission at the neuromuscular junction
  • 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 )
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS2E
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS