Gamma-aminobutyric acid receptor subunit gamma-2

NameGamma-aminobutyric acid receptor subunit gamma-2
Synonyms
  • GABA(A) receptor subunit gamma-2
Gene NameGABRG2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0006917|Gamma-aminobutyric acid receptor subunit gamma-2
MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK
VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT
WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY
TLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQF
SFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFV
SNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL
Number of residues467
Molecular Weight54161.78
Theoretical pI8.6
GO Classification
Functions
  • inhibitory extracellular ligand-gated ion channel activity
  • chloride channel activity
  • GABA-A receptor activity
  • benzodiazepine receptor activity
Processes
  • synaptic transmission
  • cellular response to histamine
  • synaptic transmission, GABAergic
  • transmembrane transport
  • post-embryonic development
  • ion transmembrane transport
  • chloride transmembrane transport
  • transport
  • regulation of membrane potential
  • neurological system process
  • adult behavior
  • response to drug
  • gamma-aminobutyric acid signaling pathway
Components
  • dendrite membrane
  • cell junction
  • integral component of plasma membrane
  • synapse
  • neuron projection
  • axon
  • postsynaptic membrane
  • chloride channel complex
  • GABA-A receptor complex
  • plasma membrane
General FunctionInhibitory extracellular ligand-gated ion channel activity
Specific FunctionComponent of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.
Pfam Domain Function
Transmembrane Regions274-296 300-322 334-356 444-466
GenBank Protein ID31637
UniProtKB IDP18507
UniProtKB Entry NameGBRG2_HUMAN
Cellular LocationCell junction
Gene sequence
>lcl|BSEQ0019445|Gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2)
ATGAGTTCGCCAAATATATGGAGCACAGGAAGCTCAGTCTACTCGACTCCTGTATTTTCA
CAGAAAATGACGGTGTGGATTCTGCTCCTGCTGTCGCTCTACCCTGGCTTCACTAGCCAG
AAATCTGATGATGACTATGAAGATTATGCTTCTAACAAAACATGGGTCTTGACTCCAAAA
GTTCCTGAGGGTGATGTCACTGTCATCTTAAACAACCTGCTGGAAGGATATGACAATAAA
CTTCGGCCTGATATAGGAGTGAAGCCAACGTTAATTCACACAGACATGTATGTGAATAGC
ATTGGTCCAGTGAACGCTATCAATATGGAATACACTATTGATATATTTTTTGCGCAAACG
TGGTATGACAGACGTTTGAAATTTAACAGCACCATTAAAGTCCTCCGATTGAACAGCAAC
ATGGTGGGGAAAATCTGGATTCCAGACACTTTCTTCAGAAATTCCAAAAAAGCTGATGCA
CACTGGATCACCACCCCCAACAGGATGCTGAGAATTTGGAATGATGGTCGAGTGCTCTAC
ACCCTAAGGTTGACAATTGATGCTGAGTGCCAATTACAATTGCACAACTTTCCAATGGAT
GAACACTCCTGCCCCTTGGAGTTCTCCAGTTATGGCTATCCACGTGAAGAAATTGTTTAT
CAATGGAAGCGAAGTTCTGTTGAAGTGGGCGACACAAGATCCTGGAGGCTTTATCAATTC
TCATTTGTTGGTCTAAGAAATACCACCGAAGTAGTGAAGACAACTTCCGGAGATTATGTG
GTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTAT
ATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCT
GTTCCAGCCAGAACATCTTTAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACC
ATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCT
GTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTC
AGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGCCCCTACCATT
GATATCCGCCCAAGATCAGCAACCATTCAAATGAATAATGCTACACACCTTCAAGAGAGA
GATGAAGAGTACGGCTATGAGTGTCTGGACGGCAAGGACTGTGCCAGTTTTTTCTGCTGT
TTTGAAGATTGTCGAACAGGAGCTTGGAGACATGGGAGGATACATATCCGCATTGCCAAA
ATGGACTCCTATGCTCGGATCTTCTTCCCCACTGCCTTCTGCCTGTTTAATCTGGTCTAT
TGGGTCTCCTACCTCTACCTGTGA
GenBank Gene IDX15376
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:4087
Chromosome Location5
Locus5q31.1-q33.1
References
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  8. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF: Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001 May;28(1):49-52. 11326275
  9. Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P: A novel GABRG2 mutation associated with febrile seizures. Neurology. 2006 Aug 22;67(4):687-90. 16924025
  10. Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S: Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. J Hum Genet. 2010 Jun;55(6):375-8. doi: 10.1038/jhg.2010.47. Epub 2010 May 20. 20485450
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