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FLASH GENE
Symbol GABRA6 contributors: - updated : 07-06-2006
HGNC name gamma-aminobutyric acid (GABA) A receptor, alpha 6
HGNC id 4080
Location 5q33.1-q33.2      Physical location : 161.112.657 - 161.129.598
Synonym symbol(s) GAA6
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 16.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map see GABRA1
Physical map
LOC348938 5q33.3 hypothetical protein LOC348938 ADAM19 5q32-q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) SOX30 5q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) LOC389341 5 similar to RIKEN cDNA 4921536K21 FLJ20546 5q33.3 hypothetical protein FLJ20546 LSM11 5q33.3 U7 snRNA-associated Sm-like protein ENTH 5q23.1-q33.3 U7 snRNA-associated Sm-like protein LOC391843 5 similar to 60S acidic ribosomal protein P2 LOC345471 5q33.3 similar to Hsp90 co-chaperone Cdc37 (Hsp90 chaperone protein kinase-targeting subunit) (p50Cdc37) LOC285721 5q33.3 hypothetical LOC285721 EBF 5q34 early B-cell factor FLJ31951 5q33.3 hypothetical protein FLJ31951 MGC10067 5q33.3 hypothetical protein MGC10067 IL12B 5q31.1-q33.1 interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) ADRA1B 5q33.1 adrenergic, alpha-1B-, receptor TTC1 5q32-q33.2 tetratricopeptide repeat domain 1 KIAA1935 5q34 KIAA1935 protein FABP6 5q23-q35 fatty acid binding protein 6, ileal (gastrotropin) FLJ14166 5q34 hypothetical protein FLJ14166 C1QTNF2 5q33.3 C1q and tumor necrosis factor related protein 2 LOC63920 5q34 transposon-derived Buster3 transposase-like SLU7 5q34 step II splicing factor SLU7 PTTG1 5q35.1 pituitary tumor-transforming 1 FLJ21477 5q34 hypothetical protein FLJ21477 GABRB2 5q33.1-q34 gamma-aminobutyric acid (GABA) A receptor, beta 2 GABRA6 5q33.1-q33.2 gamma-aminobutyric acid (GABA) A receptor, alpha 6 GABRA1 5q33.2 gamma-aminobutyric acid (GABA) A receptor, alpha 1 GABRG2 5q31.3-q33.2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 MRP63P6 5q34 mitochondrial ribosomal protein 63 pseudogene 6 CCNG1 5q32-q34 cyclin G1 LOC134492 5q34 similar to RIKEN cDNA 2700047N05 HMMR 5q33.3 hyaluronan-mediated motility receptor (RHAMM) MAT2B 5q34-q35.1 methionine adenosyltransferase II, beta LOC391844 5 similar to beta-tropomyosin LOC391845 5 similar to ribosomal protein S15
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
Endocrineadrenal gland    
Nervousbrain    
Respiratoryrespiratory tractlarynx   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell
Respiratorygranule cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand binding site in the N terminal region
  • four transmembrane segments (4TM), one of which forming the wall of the channel
  • a large intracellular loop
  • HOMOLOGY
    Homologene
    FAMILY ligand-gated ionic channel family
    CATEGORY signaling neurotransmitter , receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component component of a pentameric receptor mediating inhibitory neurotransmission
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to mood disorders
  • to schizophrenia
  • Variant & Polymorphism SNP increasing the risk of schizophrenia
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS