Homo sapiens Protein: GABRB2 | |||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-56271.6 | ||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||
Gene Symbol | GABRB2 | ||||||||||||||||||||||||||||||||||
Protein Name | gamma-aminobutyric acid (GABA) A receptor, beta 2 | ||||||||||||||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000274547 | ||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-56269 (GABRB2) | ||||||||||||||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||||||||||||||
Function | Component 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. {ECO:0000269PubMed:19763268, ECO:0000269PubMed:8264558}. | ||||||||||||||||||||||||||||||||||
Subcellular Localization | Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. | ||||||||||||||||||||||||||||||||||
Disease Associations | |||||||||||||||||||||||||||||||||||
Tissue Specificity | Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression. {ECO:0000269PubMed:16983389, ECO:0000269PubMed:19763268}. | ||||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||||
InterPro |
IPR001390
Gamma-aminobutyric-acid A receptor, alpha subunit IPR002289 Gamma-aminobutyric-acid A receptor, beta subunit IPR005437 Gamma-aminobutyric-acid A receptor, gamma subunit IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha IPR006029 Neurotransmitter-gated ion-channel transmembrane domain IPR006201 Neurotransmitter-gated ion-channel IPR006202 Neurotransmitter-gated ion-channel ligand-binding |
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PFAM |
PF02932
PF02931 |
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PRINTS |
PR01079
PR01160 PR01620 PR00253 PR00252 |
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PIRSF | |||||||||||||||||||||||||||||||||||
SMART | |||||||||||||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||
SwissProt | P47870 | ||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P47870 | ||||||||||||||||||||||||||||||||||
TrEMBL | D1M715 | ||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||
Entrez Gene | 2561 | ||||||||||||||||||||||||||||||||||
UniGene | Hs.626335 | ||||||||||||||||||||||||||||||||||
RefSeq | NP_068711 | ||||||||||||||||||||||||||||||||||
HUGO | HGNC:4082 | ||||||||||||||||||||||||||||||||||
OMIM | 600232 | ||||||||||||||||||||||||||||||||||
CCDS | CCDS4355 | ||||||||||||||||||||||||||||||||||
HPRD | 02578 | ||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||
EMBL | AK289730 AK289815 BC099705 BC099719 BC105639 CH471062 GU086163 GU086164 GU117779 GU117780 GU117781 GU117782 GU117783 GU117784 GU117785 GU117786 GU117787 GU117788 GU117789 GU117790 GU117791 GU117792 GU117793 GU117794 GU117795 GU117796 GU117797 GU117798 GU117799 GU117800 GU117801 GU117802 GU117803 GU117804 GU117805 GU117806 GU117807 GU117809 GU117810 GU117811 GU117812 GU117813 GU117814 GU117816 GU117817 GU117818 GU117819 GU117820 GU117821 GU117822 GU117823 GU117824 GU117825 GU117826 GU117827 GU117828 GU117829 GU117830 GU117831 GU117832 GU117833 GU117834 GU117835 GU117836 GU117837 GU117838 GU117839 GU117840 GU117841 GU117842 GU117843 GU117844 GU117845 GU117846 GU117847 GU117848 GU117849 GU117850 GU117851 GU117852 GU117853 GU117854 GU117855 GU117856 GU117857 GU117858 GU117859 GU117860 GU117861 GU117862 GU117863 GU117864 GU117866 GU117867 GU117868 S67368 S77553 S77554 | ||||||||||||||||||||||||||||||||||
GenPept | AAB29370 AAB33982 AAB33983 AAH99705 AAH99719 AAI05640 ACY69094 ACY69095 ACY71653 ACY71654 ACY71655 ACY71656 ACY71657 ACY71658 ACY71659 ACY71660 ACY71661 ACY71662 ACY71663 ACY71664 ACY71665 ACY71666 ACY71667 ACY71668 ACY71669 ACY71670 ACY71671 ACY71672 ACY71673 ACY71674 ACY71675 ACY71676 ACY71677 ACY71678 ACY71679 ACY71680 ACY71681 ACY71683 ACY71684 ACY71685 ACY71686 ACY71687 ACY71688 ACY71690 ACY71691 ACY71692 ACY71693 ACY71694 ACY71695 ACY71696 ACY71697 ACY71698 ACY71699 ACY71700 ACY71701 ACY71702 ACY71703 ACY71704 ACY71705 ACY71706 ACY71707 ACY71708 ACY71709 ACY71710 ACY71711 ACY71712 ACY71713 ACY71714 ACY71715 ACY71716 ACY71717 ACY71718 ACY71719 ACY71720 ACY71721 ACY71722 ACY71723 ACY71724 ACY71725 ACY71726 ACY71727 ACY71728 ACY71729 ACY71730 ACY71731 ACY71732 ACY71733 ACY71734 ACY71735 ACY71736 ACY71737 ACY71738 ACY71740 ACY71741 ACY71742 BAF82419 BAF82504 EAW61543 | ||||||||||||||||||||||||||||||||||