HUMAN:GBRB3

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	GABRB3
Protein Name(s)	Gamma-aminobutyric acid receptor subunit beta-3 GABA(A) receptor subunit beta-3
External Links
UniProt	P28472
EMBL	M82919 AK295167 AK302822 AC009878 AC011196 AC104569 AC127511 AC135999 AC145167 AC145196 EU606048 CH471151 BC010641 L04311 L04311
CCDS	CCDS10018.1 CCDS10019.1 CCDS53920.1 CCDS53921.1
PIR	A55275 B45468
RefSeq	NP_000805.1 NP_001178249.1 NP_001178250.1 NP_001265560.1 NP_068712.1
UniGene	Hs.302352 Hs.727263
PDB	4COF
PDBsum	4COF
ProteinModelPortal	P28472
SMR	P28472
BioGrid	108836
DIP	DIP-61029N
IntAct	P28472
STRING	9606.ENSP00000299267
BindingDB	P28472
ChEMBL	CHEMBL2109244
DrugBank	DB00659 DB00546 DB00404 DB00543 DB01558 DB00237 DB00241 DB00475 DB01594 DB00349 DB01068 DB00628 DB01559 DB01189 DB00829 DB00228 DB01049 DB01215 DB00402 DB00189 DB00292 DB01567 DB01205 DB00690 DB06716 DB01437 DB00801 DB01159 DB00753 DB00602 DB00186 DB00371 DB01028 DB01107 DB00683 DB01595 DB00334 DB00842 DB00312 DB00592 DB01588 DB00794 DB00818 DB01589 DB01236 DB00306 DB00231 DB00273 DB00897
GuidetoPHARMACOLOGY	412
PhosphoSite	P28472
DMDM	120773
MaxQB	P28472
PaxDb	P28472
PRIDE	P28472
DNASU	2562
Ensembl	ENST00000299267 ENST00000311550 ENST00000400188 ENST00000545868 ENST00000622697
GeneID	2562
KEGG	hsa:2562
UCSC	uc001zaz.3 uc001zba.3 uc021sgg.1
CTD	2562
GeneCards	GC15M026788
GeneReviews	GABRB3
HGNC	HGNC:4083
MIM	137192 612269
neXtProt	NX_P28472
Orphanet	106 64280
PharmGKB	PA28497
eggNOG	NOG77438
GeneTree	ENSGT00760000118821
HOVERGEN	HBG051707
InParanoid	P28472
KO	K05181
OrthoDB	EOG712TVZ
PhylomeDB	P28472
TreeFam	TF315453
Reactome	REACT_24987 REACT_25387 REACT_267716
SignaLink	P28472
ChiTaRS	GABRB3
GeneWiki	GABRB3
GenomeRNAi	2562
NextBio	10121
PRO	PR:P28472
Proteomes	UP000005640
Bgee	P28472
CleanEx	HS_GABRB3
ExpressionAtlas	P28472
Genevestigator	P28472
GO	GO:0030054 GO:0034707 GO:1902711 GO:0005887 GO:0005886 GO:0045211 GO:0005254 GO:0005230 GO:0004890 GO:0022851 GO:0071420 GO:1902476 GO:0090102 GO:0060119 GO:0060384 GO:0034220 GO:0043524 GO:0060021 GO:0007605 GO:0007165 GO:0007268 GO:0055085 GO:0006810
Gene3D	2.70.170.10
InterPro	IPR006028 IPR002289 IPR006202 IPR006201 IPR006029 IPR018000
PANTHER	PTHR18945
Pfam	PF02931 PF02932
PRINTS	PR01160 PR00253 PR00252
SUPFAM	SSF63712 SSF90112
TIGRFAMs	TIGR00860
PROSITE	PS00236

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:1904862	inhibitory synapse assembly	PMID:25489750^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:1902711	GABA-A receptor complex	PMID:26950270^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0022851	GABA-gated chloride ion channel activity	PMID:26950270^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0007214	gamma-aminobutyric acid signaling pathway	PMID:26950270^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:9039914^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0022851	GABA-gated chloride ion channel activity	PMID:9039914^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:1902711	GABA-A receptor complex	PMID:9039914^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:1902711	GABA-A receptor complex	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P63080	C	Seeded From UniProt	complete
enables	GO:0022851	GABA-gated chloride ion channel activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P63080	F	Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P63080	P	Seeded From UniProt	complete
involved_in	GO:0060021	roof of mouth development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P63080	P	Seeded From UniProt	complete
involved_in	GO:0071420	cellular response to histamine	PMID:18281286^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:22303015^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:22303015^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0022851	GABA-gated chloride ion channel activity	PMID:22303015^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:1902711	GABA-A receptor complex	PMID:22303015^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0004890	GABA-A receptor activity	PMID:22303015^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:26950270^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:1902711	GABA-A receptor complex	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95621 PANTHER:PTN000435002 RGD:2649 RGD:2650 UniProtKB:P18505 UniProtKB:P28472	C	Seeded From UniProt	complete
involved_in	GO:0050877	nervous system process	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:87888 PANTHER:PTN000434994 UniProtKB:P11230 UniProtKB:P17787 UniProtKB:P43681	P	Seeded From UniProt	complete
part_of	GO:0045202	synapse	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95747 PANTHER:PTN000434994 UniProtKB:G5EDF1 UniProtKB:P11230 WB:WBGene00006765 WB:WBGene00006774	C	Seeded From UniProt	complete
part_of	GO:0043005	neuron projection	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95747 PANTHER:PTN000434994 RGD:2351 RGD:621544 WB:WBGene00000042 WB:WBGene00002974 WB:WBGene00006765 WB:WBGene00006774	C	Seeded From UniProt	complete
involved_in	GO:0042391	regulation of membrane potential	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:87885 MGI:MGI:87887 MGI:MGI:87888 MGI:MGI:87890 MGI:MGI:87891 MGI:MGI:87892 MGI:MGI:87893 MGI:MGI:87894 MGI:MGI:87895 MGI:MGI:95747 MGI:MGI:95751 MGI:MGI:99779 PANTHER:PTN000434994 RGD:2348 UniProtKB:P02708 UniProtKB:P23415	P	Seeded From UniProt	complete
involved_in	GO:0034220	ion transmembrane transport	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95613 PANTHER:PTN000434994 UniProtKB:P23416 UniProtKB:P36544 UniProtKB:Q401N2 WB:WBGene00000055 WB:WBGene00002974 WB:WBGene00006797	P	Seeded From UniProt	complete
involved_in	GO:0007268	chemical synaptic transmission	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0003011 FB:FBgn0086778 MGI:MGI:103156 MGI:MGI:95613 MGI:MGI:95623 MGI:MGI:95747 PANTHER:PTN000434994 RGD:2648 RGD:61859 RGD:61901 UniProtKB:P48167 WB:WBGene00000050 WB:WBGene00000054	P	Seeded From UniProt	complete
involved_in	GO:0007165	signal transduction	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000434994 UniProtKB:P11230 UniProtKB:P17787 UniProtKB:P30926 UniProtKB:P32297 UniProtKB:P36544 UniProtKB:P43681 UniProtKB:Q15822	P	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1861899 MGI:MGI:95623 MGI:MGI:95750 PANTHER:PTN000434994 RGD:2649 RGD:2650 RGD:61855 RGD:61861 RGD:621229 UniProtKB:O75311 UniProtKB:P23415 UniProtKB:P23416 UniProtKB:P28472 UniProtKB:P48167 UniProtKB:Q9UGM1 WB:WBGene00000955 WB:WBGene00001133 WB:WBGene00001591 WB:WBGene00001592	C	Seeded From UniProt	complete
contributes_to	GO:0005230	extracellular ligand-gated ion channel activity	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000434994 WB:WBGene00000043 WB:WBGene00001512 WB:WBGene00003386 WB:WBGene00006774 WB:WBGene00012857 WB:WBGene00017375	F	Seeded From UniProt	complete
contributes_to	GO:0004890	GABA-A receptor activity	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95621 MGI:MGI:95626 PANTHER:PTN000435002 RGD:2649 RGD:2650 RGD:2651 RGD:61901 RGD:61902 RGD:620532 UniProtKB:P28472 WB:WBGene00001512	F	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:24909990^[7]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P28472	F	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:16537435^[8]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P28472	F	Seeded From UniProt	complete
involved_in	GO:1904862	inhibitory synapse assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
enables	GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	F	Seeded From UniProt	complete
part_of	GO:1902711	GABA-A receptor complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	C	Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:1901215	negative regulation of neuron death	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
part_of	GO:0098982	GABA-ergic synapse	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	C	Seeded From UniProt	complete
involved_in	GO:0090102	cochlea development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:0060384	innervation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:0060119	inner ear receptor cell development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:0060080	inhibitory postsynaptic potential	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:0060021	roof of mouth development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:0048666	neuron development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:0043524	negative regulation of neuron apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
involved_in	GO:0043523	regulation of neuron apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
enables	GO:0022851	GABA-gated chloride ion channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	F	Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	C	Seeded From UniProt	complete
enables	GO:0004890	GABA-A receptor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P63080 ensembl:ENSMUSP00000038051	F	Seeded From UniProt	complete
enables	GO:0004888	transmembrane signaling receptor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006028 InterPro:IPR006201	F	Seeded From UniProt	complete
enables	GO:0004890	GABA-A receptor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002289	F	Seeded From UniProt	complete
enables	GO:0005216	ion channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002289 InterPro:IPR006028 InterPro:IPR006201	F	Seeded From UniProt	complete
enables	GO:0005230	extracellular ligand-gated ion channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006202 InterPro:IPR036734	F	Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002289 InterPro:IPR006029 InterPro:IPR006202 InterPro:IPR036719 InterPro:IPR036734	P	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002289	C	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006028 InterPro:IPR006029 InterPro:IPR006201 InterPro:IPR006202 InterPro:IPR036719 InterPro:IPR036734	C	Seeded From UniProt	complete
involved_in	GO:0034220	ion transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006028 InterPro:IPR006201	P	Seeded From UniProt	complete
involved_in	GO:0007165	signal transduction	PMID:1664410^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:1664410^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0004890	GABA-A receptor activity	PMID:1664410^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-975340	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0034707	chloride channel complex	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0869	C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C	Seeded From UniProt	complete
part_of	GO:0045211	postsynaptic membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0628 UniProtKB-SubCell:SL-0219	C	Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P	Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	C	Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0869	F	Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0770	C	Seeded From UniProt	complete
involved_in	GO:0006821	chloride transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0869	P	Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0968	C	Seeded From UniProt	complete
part_of	GO:0030659	cytoplasmic vesicle membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0089	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Brown, LE et al. (2014) Inhibitory synapse formation in a co-culture model incorporating GABAergic medium spiny neurons and HEK293 cells stably expressing GABAA receptors. J Vis Exp e52115 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 Janve, VS et al. (2016) Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. Ann. Neurol. 79 806-825 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Davies, PA et al. (1997) Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. Nature 385 820-3 PubMed GONUTS page
↑ Saras, A et al. (2008) Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses. J. Biol. Chem. 283 10470-5 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 Gurba, KN et al. (2012) GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. J. Biol. Chem. 287 12083-97 PubMed GONUTS page
↑ ^6.00 ^6.01 ^6.02 ^6.03 ^6.04 ^6.05 ^6.06 ^6.07 ^6.08 ^6.09 ^6.10 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Miller, PS & Aricescu, AR (2014) Crystal structure of a human GABAA receptor. Nature 512 270-5 PubMed GONUTS page
↑ Chen, L et al. (2006) Structural model for gamma-aminobutyric acid receptor noncompetitive antagonist binding: widely diverse structures fit the same site. Proc. Natl. Acad. Sci. U.S.A. 103 5185-90 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Wagstaff, J et al. (1991) The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics 11 1071-8 PubMed GONUTS page

[PMID:25489750-1] Brown, LE et al. (2014) Inhibitory synapse formation in a co-culture model incorporating GABAergic medium spiny neurons and HEK293 cells stably expressing GABAA receptors. J Vis Exp e52115 PubMed GONUTS page

[PMID:26950270-2] 2.0 ^2.1 ^2.2 ^2.3 Janve, VS et al. (2016) Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. Ann. Neurol. 79 806-825 PubMed GONUTS page

[PMID:9039914-3] 3.0 ^3.1 ^3.2 Davies, PA et al. (1997) Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. Nature 385 820-3 PubMed GONUTS page

[PMID:18281286-4] Saras, A et al. (2008) Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses. J. Biol. Chem. 283 10470-5 PubMed GONUTS page

[PMID:22303015-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 Gurba, KN et al. (2012) GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. J. Biol. Chem. 287 12083-97 PubMed GONUTS page

[PMID:21873635-6] 6.00 ^6.01 ^6.02 ^6.03 ^6.04 ^6.05 ^6.06 ^6.07 ^6.08 ^6.09 ^6.10 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:24909990-7] Miller, PS & Aricescu, AR (2014) Crystal structure of a human GABAA receptor. Nature 512 270-5 PubMed GONUTS page

[PMID:16537435-8] Chen, L et al. (2006) Structural model for gamma-aminobutyric acid receptor noncompetitive antagonist binding: widely diverse structures fit the same site. Proc. Natl. Acad. Sci. U.S.A. 103 5185-90 PubMed GONUTS page

[PMID:1664410-9] 9.0 ^9.1 ^9.2 Wagstaff, J et al. (1991) The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics 11 1071-8 PubMed GONUTS page

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HUMAN:GBRB3

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References

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