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FLASH GENE
Symbol CHRNG contributors: - updated : 29-08-2006
HGNC name cholinergic receptor, nicotinic, gamma polypeptide
HGNC id 1967
Corresponding disease
MPTLT1 multiple pterygium syndrome, lethal type 1
MPTSE multiple pterygium syndrome, Escobar variant
Location 2q36-q37      Physical location : 233.404.436 - 233.411.038
Synonym name gamma polypeptide
Synonym symbol(s) ACHRG
DNA
TYPE functioning gene
STRUCTURE 5.00 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
MGC43122 2q37.1 hypothetical protein MGC43122 GPR66 2q37.1 G protein-coupled receptor 66 LOC391490 2 similar to 60S ribosomal protein L23a MGC35154 2q37.1 hypothetical protein MGC35154 MGC4771 2q37.1 hypothetical protein MGC4771 PTMA 2q36-q36 prothymosin, alpha (gene sequence 28) PDE6D 2q36 phosphodiesterase 6D, cGMP-specific, rod, delta COPS7B 2q36.2 COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) LOC391491 2 similar to guanidinoacetate methyltransferase; GAMT NPPC 2q24-qter natriuretic peptide precursor C MGC42174 2q37.1 hypothetical protein MGC42174 ALPP 2q37.1 alkaline phosphatase, placental (Regan isozyme) ALPPL2 2q37 alkaline phosphatase, placental-like 2 LOC391492 2 similar to xce ALPI 2q37.1 alkaline phosphatase, intestinal ECEL1 2q36-q37 endothelin converting enzyme-like 1 LOC389083 2 similar to enterokinase CHRND 2q37 cholinergic receptor, nicotinic, delta polypeptide CHRNG 2q37.1-q37.2 cholinergic receptor, nicotinic, gamma polypeptide TIGD1 2q36.1 tigger transposable element derived 1 EIF4EL3 2q37.3 eukaryotic translation initiation factor 4E-like 3 FLJ13612 TNRC15 2q37.1 trinucleotide repeat containing 15 KCNJ13 2q37 potassium inwardly-rectifying channel, subfamily J, member 13 LOC389084 2 similar to ASCL830 NGEF 2q37 neuronal guanine nucleotide exchange factor NEU2 2q37 sialidase 2 (cytosolic sialidase) INPP5D 2q36-q37.1 inositol polyphosphate-5-phosphatase, 145kDa APG16L 2q37.1 APG16 autophagy 16-like (S. cerevisiae) SAG 2q37.1 S-antigen; retina and pineal gland (arrestin) DGKD 2q37.1 diacylglycerol kinase, delta 130kDa
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text fetal and denervated muscle
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
    CATEGORY receptor ligand ion channel , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text postsynaptic membrane
    basic FUNCTION
  • responding, after binding acetylcholine, by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane
    • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MPTSE , MPTLT1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS