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FLASH GENE
Symbol GABRA4 contributors: - updated : 30-08-2005
HGNC name gamma-aminobutyric acid (GABA) A receptor, alpha 4
HGNC id 4078
Location 4p14-p12      Physical location : 46.920.918 - 46.995.580
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with genes encoding beta 1, alpha 2 and gamma 1 subunits of the GABA A receptor
STRUCTURE 65.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
LOC389207 4 similar to ENSANGP00000012385 LOC345302 4p13 similar to ribosomal protein S2; 40S ribosomal protein S2 PGBD3P4 4p14 piggyBac transposable element derived 3 pseudogene 4 KCTD8 4p13 potassium channel tetramerisation domain containing 8 FLJ39576 4p13 hypothetical protein FLJ39576 FLJ13220 4p13 hypothetical protein FLJ13220 GNPDA2 4p13 glucosamine-6-phosphate deaminase 2 LOC391648 4 similar to ribosomal protein L4; 60S ribosomal protein L4; homologue of Xenopus ribosomal protein L1 GABRG1 4p14-q21.1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 GABRA2 4p13-p12 gamma-aminobutyric acid (GABA) A receptor, alpha 2 LOC256000 4p13 similar to ras-related C3 botulinum toxin substrate 1 isoform Rac1; rho family, small GTP binding protein Rac1 COX7B2 4p13 cytochrome c oxidase subunit VIIb2 GABRA4 4p14-p12 gamma-aminobutyric acid (GABA) A receptor, alpha 4 GABRB1 4p13-p12 gamma-aminobutyric acid (GABA) A receptor, beta 1 FLJ20502 4p12 hypothetical protein FLJ20502 ATP10D 4p13-q13.1 ATPase, Class V, type 10D CRN 4p13-p12 corin HOZFP 4p12 ovarian zinc finger protein CNGA1 4p14-q13 cyclic nucleotide gated channel alpha 1 LOC152519 4p12 hypothetical protein LOC152519 TXK 4p12 TXK tyrosine kinase TEC 4p12 tec protein tyrosine kinase KIAA1458 4p12 KIAA1458 protein SLC10A4 4p12 solute carrier family 10 (sodium/bile acid cotransporter family), member 4 ZAR1 4p11 zygote arrest 1 KIAA0826 4p12 KIAA0826 protein OCIA 4q11 KIAA0826 protein MGC45416 4p12 hypothetical protein MGC45416 FLJ21511 4p12 hypothetical protein FLJ21511 LOC391649 4 similar to SNAG1 LOC391650 4 similar to SNAG1 LOC391651 4 similar to SNAG1 LOC391652 4 similar to SNAG1
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    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
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 (TC 1.A.9) family
    CATEGORY receptor membrane ligand ion channel , 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
    a component
  • component of a pentameric receptor mediating inhibitory neurotransmission
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by EGR3 in developing neurons and in epilepsy
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS