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FLASH GENE
Symbol SNTG2 contributors: - updated : 22-09-2006
HGNC name syntrophin, gamma 2
HGNC id 13741
Location 2p25      Physical location : 946.553 - 1.371.382
Genatlas name dystrophin associated protein A1
Synonym name syntrophin 5
Synonym symbol(s) DAPA1G1, SYN5, G2SYN, STG2
DNA
TYPE functioning gene
STRUCTURE 317.00 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
 braindiencephalonhypothalamus  
 brainforebraincerebral cortex  
 nervecranial nerve   
Reproductivemale systemtestis   
Respiratoryrespiratory tracttrachea   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one pleckstrin homology (PH) domains by the C-terminus
  • a PDZ (PSD95/disc large/ZO1) domain, directly interacting with the C terminus of SCN5A
  • N-terminal part, including the PDZ domain, and the C-terminal half involved in the binding to NLGNs
  • HOMOLOGY
    interspecies homolog to C.Elegans F27D9.8
    Homologene
    FAMILY syntrophin family
    CATEGORY adaptor , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text cytoplasmic side of sarcolemma, perikaryon, proximal part of the neuron process
    basic FUNCTION
  • adapter protein binding to and probably organizing the subcellular localization of a variety of proteins
  • essential Na(+) channel-interacting protein required for the full expression of the Na(+) current
  • play a key role as scaffolding proteins in both neuromuscular junctions and the central nervous system, where they interact with dystrophin and dystrobrevin
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component dystrophin complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding the C terminal region of dystrophin and related proteins
  • interacting with SCN5A to determines mechanosensitivity and current availability
  • binding NLGN4X and NLGN4Y, NLGN3 (binding is influenced by autism-related mutations)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism (through interactions between neuroligins and SNTG2 at the inhibitory synapse)
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS