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{{Infobox_gene}}
{{PBB_Controls
'''Gamma-aminobutyric acid receptor subunit beta-2''' is a [[protein]] that in humans is encoded by the ''GABRB2'' [[gene]].<ref name="pmid7851879">{{cite journal | vauthors = Russek SJ, Farb DH | title = Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform | journal = Genomics | volume = 23 | issue = 3 | pages = 528–33 | date = October 1994 | pmid = 7851879 | pmc =  | doi = 10.1006/geno.1994.1539 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2561| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Gamma-aminobutyric acid (GABA) A receptor, beta 2
| HGNCid = 4082
| Symbol = GABRB2
| AltSymbols =; MGC119386; MGC119388; MGC119389
| OMIM = 600232
| ECnumber = 
| Homologene = 7327
| MGIid = 95620
| GeneAtlas_image1 = PBB_GE_GABRB2_207352_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004890 |text = GABA-A receptor activity}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005230 |text = extracellular ligand-gated ion channel activity}} {{GNF_GO|id=GO:0005254 |text = chloride channel activity}} {{GNF_GO|id=GO:0030594 |text = neurotransmitter receptor activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0045211 |text = postsynaptic membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0007214 |text = gamma-aminobutyric acid signaling pathway}} {{GNF_GO|id=GO:0007268 |text = synaptic transmission}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2561
    | Hs_Ensembl = ENSG00000145864
    | Hs_RefseqProtein = NP_000804
    | Hs_RefseqmRNA = NM_000813
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 160653449
    | Hs_GenLoc_end = 160907708
    | Hs_Uniprot = P47870
    | Mm_EntrezGene = 14401
    | Mm_Ensembl = ENSMUSG00000007653
    | Mm_RefseqmRNA = NM_172432
    | Mm_RefseqProtein = NP_766020
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 42263180
    | Mm_GenLoc_end = 42472451
    | Mm_Uniprot = Q5SUG5
  }}
}}
'''Gamma-aminobutyric acid (GABA) A receptor, beta 2''', also known as '''GABRB2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2561| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.<ref name="entrez">{{cite web | title = Entrez Gene: GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2561| accessdate = }}</ref>
}}


==See also==
== Clinical significance ==
 
Missense mutations of GABRB2 have been identified in patients with infantile onset epilepsy and intellectual disability.<ref>{{cite journal | vauthors = Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A | title = A novel variant in GABRB2 associated with intellectual disability and epilepsy | journal = American Journal of Medical Genetics. Part A | volume = 164A | issue = 11 | pages = 2914–21 | date = November 2014 | pmid = 25124326 | pmc = 4205182 | doi = 10.1002/ajmg.a.36714 }}</ref><ref>{{cite journal | vauthors = Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S | title = A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy | journal = Journal of Medical Genetics | pages = jmedgenet–2016-104083 | date = October 2016 | pmid = 27789573 | doi = 10.1136/jmedgenet-2016-104083 | volume=54}}</ref>
 
== Interactions ==
 
GABRB2 has been shown to [[Protein-protein interaction|interact]] with [[TRAK2]].<ref name=pmid12034717>{{cite journal | vauthors = Beck M, Brickley K, Wilkinson HL, Sharma S, Smith M, Chazot PL, Pollard S, Stephenson FA | title = Identification, molecular cloning, and characterization of a novel GABAA receptor-associated protein, GRIF-1 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 33 | pages = 30079–90 | date = August 2002 | pmid = 12034717 | doi = 10.1074/jbc.M200438200 }}</ref>
 
== See also ==
* [[GABAA receptor]]
* [[GABAA receptor]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Moss SJ, Doherty CA, Huganir RL | title = Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor | journal = The Journal of Biological Chemistry | volume = 267 | issue = 20 | pages = 14470–6 | date = July 1992 | pmid = 1321150 | doi =  }}
| citations =
* {{cite journal | vauthors = Kellenberger S, Malherbe P, Sigel E | title = Function of the alpha 1 beta 2 gamma 2S gamma-aminobutyric acid type A receptor is modulated by protein kinase C via multiple phosphorylation sites | journal = The Journal of Biological Chemistry | volume = 267 | issue = 36 | pages = 25660–3 | date = December 1992 | pmid = 1334482 | doi =  }}
*{{cite journal | author=Moss SJ, Doherty CA, Huganir RL |title=Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor. |journal=J. Biol. Chem. |volume=267 |issue= 20 |pages= 14470-6 |year= 1992 |pmid= 1321150 |doi=  }}
* {{cite journal | vauthors = McKinley DD, Lennon DJ, Carter DB | title = Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor | journal = Brain Research. Molecular Brain Research | volume = 28 | issue = 1 | pages = 175–9 | date = January 1995 | pmid = 7707873 | doi = 10.1016/0169-328X(94)00228-7 }}
*{{cite journal | author=Kellenberger S, Malherbe P, Sigel E |title=Function of the alpha 1 beta 2 gamma 2S gamma-aminobutyric acid type A receptor is modulated by protein kinase C via multiple phosphorylation sites. |journal=J. Biol. Chem. |volume=267 |issue= 36 |pages= 25660-3 |year= 1993 |pmid= 1334482 |doi=  }}
* {{cite journal | vauthors = Tögel M, Mossier B, Fuchs K, Sieghart W | title = gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties | journal = The Journal of Biological Chemistry | volume = 269 | issue = 17 | pages = 12993–8 | date = April 1994 | pmid = 8175718 | doi = }}
*{{cite journal | author=McKinley DD, Lennon DJ, Carter DB |title=Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor. |journal=Brain Res. Mol. Brain Res. |volume=28 |issue= 1 |pages= 175-9 |year= 1995 |pmid= 7707873 |doi= }}
* {{cite journal | vauthors = Hadingham KL, Wingrove PB, Wafford KA, Bain C, Kemp JA, Palmer KJ, Wilson AW, Wilcox AS, Sikela JM, Ragan CI | title = Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors | journal = Molecular Pharmacology | volume = 44 | issue = 6 | pages = 1211–8 | date = December 1993 | pmid = 8264558 | doi =  }}
*{{cite journal | author=Russek SJ, Farb DH |title=Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform. |journal=Genomics |volume=23 |issue= 3 |pages= 528-33 |year= 1995 |pmid= 7851879 |doi= 10.1006/geno.1994.1539 }}
* {{cite journal | vauthors = Akbarian S, Huntsman MM, Kim JJ, Tafazzoli A, Potkin SG, Bunney WE, Jones EG | title = GABAA receptor subunit gene expression in human prefrontal cortex: comparison of schizophrenics and controls | journal = Cerebral Cortex | volume = 5 | issue = 6 | pages = 550–60 | year = 1996 | pmid = 8590827 | doi = 10.1093/cercor/5.6.550 }}
*{{cite journal | author=Tögel M, Mossier B, Fuchs K, Sieghart W |title=gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. |journal=J. Biol. Chem. |volume=269 |issue= 17 |pages= 12993-8 |year= 1994 |pmid= 8175718 |doi=  }}
* {{cite journal | vauthors = Longson D, Longson CM, Jones EG | title = Localization of CAM II kinase-alpha, GAD, GluR2 and GABA(A) receptor subunit mRNAs in the human entorhinal cortex | journal = The European Journal of Neuroscience | volume = 9 | issue = 4 | pages = 662–75 | date = April 1997 | pmid = 9153573 | doi = 10.1111/j.1460-9568.1997.tb01415.x }}
*{{cite journal | author=Hadingham KL, Wingrove PB, Wafford KA, ''et al.'' |title=Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors. |journal=Mol. Pharmacol. |volume=44 |issue= 6 |pages= 1211-8 |year= 1994 |pmid= 8264558 |doi= }}
* {{cite journal | vauthors = Russek SJ | title = Evolution of GABA(A) receptor diversity in the human genome | journal = Gene | volume = 227 | issue = 2 | pages = 213–22 | date = February 1999 | pmid = 10023064 | doi = 10.1016/S0378-1119(98)00594-0 }}
*{{cite journal | author=Akbarian S, Huntsman MM, Kim JJ, ''et al.'' |title=GABAA receptor subunit gene expression in human prefrontal cortex: comparison of schizophrenics and controls. |journal=Cereb. Cortex |volume=5 |issue= 6 |pages= 550-60 |year= 1996 |pmid= 8590827 |doi= }}
* {{cite journal | vauthors = Bonnert TP, McKernan RM, Farrar S, le Bourdellès B, Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford KA, Whiting PJ | title = theta, a novel gamma-aminobutyric acid type A receptor subunit | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 17 | pages = 9891–6 | date = August 1999 | pmid = 10449790 | pmc = 22306 | doi = 10.1073/pnas.96.17.9891 }}
*{{cite journal | author=Longson D, Longson CM, Jones EG |title=Localization of CAM II kinase-alpha, GAD, GluR2 and GABA(A) receptor subunit mRNAs in the human entorhinal cortex. |journal=Eur. J. Neurosci. |volume=9 |issue= 4 |pages= 662-75 |year= 1997 |pmid= 9153573 |doi= }}
* {{cite journal | vauthors = Brooks-Kayal AR, Shumate MD, Jin H, Lin DD, Rikhter TY, Holloway KL, Coulter DA | title = Human neuronal gamma-aminobutyric acid(A) receptors: coordinated subunit mRNA expression and functional correlates in individual dentate granule cells | journal = The Journal of Neuroscience | volume = 19 | issue = 19 | pages = 8312–8 | date = October 1999 | pmid = 10493732 | doi =  }}
*{{cite journal | author=Russek SJ |title=Evolution of GABA(A) receptor diversity in the human genome. |journal=Gene |volume=227 |issue= 2 |pages= 213-22 |year= 1999 |pmid= 10023064 |doi= }}
* {{cite journal | vauthors = Buckley ST, Eckert AL, Dodd PR | title = Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex | journal = Annals of the New York Academy of Sciences | volume = 914 | issue = | pages = 58–64 | date = September 2000 | pmid = 11085308 | doi = 10.1111/j.1749-6632.2000.tb05183.x }}
*{{cite journal | author=Bonnert TP, McKernan RM, Farrar S, ''et al.'' |title=theta, a novel gamma-aminobutyric acid type A receptor subunit. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 17 |pages= 9891-6 |year= 1999 |pmid= 10449790 |doi=  }}
* {{cite journal | vauthors = Salim K, Fenton T, Bacha J, Urien-Rodriguez H, Bonnert T, Skynner HA, Watts E, Kerby J, Heald A, Beer M, McAllister G, Guest PC | title = Oligomerization of G-protein-coupled receptors shown by selective co-immunoprecipitation | journal = The Journal of Biological Chemistry | volume = 277 | issue = 18 | pages = 15482–5 | date = May 2002 | pmid = 11854302 | doi = 10.1074/jbc.M201539200 }}
*{{cite journal | author=Brooks-Kayal AR, Shumate MD, Jin H, ''et al.'' |title=Human neuronal gamma-aminobutyric acid(A) receptors: coordinated subunit mRNA expression and functional correlates in individual dentate granule cells. |journal=J. Neurosci. |volume=19 |issue= 19 |pages= 8312-8 |year= 1999 |pmid= 10493732 |doi= }}
* {{cite journal | vauthors = Beck M, Brickley K, Wilkinson HL, Sharma S, Smith M, Chazot PL, Pollard S, Stephenson FA | title = Identification, molecular cloning, and characterization of a novel GABAA receptor-associated protein, GRIF-1 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 33 | pages = 30079–90 | date = August 2002 | pmid = 12034717 | doi = 10.1074/jbc.M200438200 }}
*{{cite journal | author=Buckley ST, Eckert AL, Dodd PR |title=Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex. |journal=Ann. N. Y. Acad. Sci. |volume=914 |issue= |pages= 58-64 |year= 2006 |pmid= 11085308 |doi= }}
* {{cite journal | vauthors = Iyer SP, Akimoto Y, Hart GW | title = Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase | journal = The Journal of Biological Chemistry | volume = 278 | issue = 7 | pages = 5399–409 | date = February 2003 | pmid = 12435728 | doi = 10.1074/jbc.M209384200 }}
*{{cite journal | author=Salim K, Fenton T, Bacha J, ''et al.'' |title=Oligomerization of G-protein-coupled receptors shown by selective co-immunoprecipitation. |journal=J. Biol. Chem. |volume=277 |issue= 18 |pages= 15482-5 |year= 2002 |pmid= 11854302 |doi= 10.1074/jbc.M201539200 }}
* {{cite journal | vauthors = Wang J, Liu S, Haditsch U, Tu W, Cochrane K, Ahmadian G, Tran L, Paw J, Wang Y, Mansuy I, Salter MM, Lu YM | title = Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses | journal = The Journal of Neuroscience | volume = 23 | issue = 3 | pages = 826–36 | date = February 2003 | pmid = 12574411 | doi = }}
*{{cite journal | author=Beck M, Brickley K, Wilkinson HL, ''et al.'' |title=Identification, molecular cloning, and characterization of a novel GABAA receptor-associated protein, GRIF-1. |journal=J. Biol. Chem. |volume=277 |issue= 33 |pages= 30079-90 |year= 2002 |pmid= 12034717 |doi= 10.1074/jbc.M200438200 }}
* {{cite journal | vauthors = Pirker S, Schwarzer C, Czech T, Baumgartner C, Pockberger H, Maier H, Hauer B, Sieghart W, Furtinger S, Sperk G | title = Increased expression of GABA(A) receptor beta-subunits in the hippocampus of patients with temporal lobe epilepsy | journal = Journal of Neuropathology and Experimental Neurology | volume = 62 | issue = 8 | pages = 820–34 | date = August 2003 | pmid = 14503638 | doi = 10.1093/jnen/62.8.820}}
*{{cite journal | author=Iyer SP, Akimoto Y, Hart GW |title=Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase. |journal=J. Biol. Chem. |volume=278 |issue= 7 |pages= 5399-409 |year= 2003 |pmid= 12435728 |doi= 10.1074/jbc.M209384200 }}
* {{cite journal | vauthors = Mercik K, Pytel M, Mozrzymas JW | title = Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics | journal = Neuroscience Letters | volume = 352 | issue = 3 | pages = 195–8 | date = December 2003 | pmid = 14625018 | doi = 10.1016/j.neulet.2003.08.060 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Lo WS, Lau CF, Xuan Z, Chan CF, Feng GY, He L, Cao ZC, Liu H, Luan QM, Xue H | title = Association of SNPs and haplotypes in GABAA receptor beta2 gene with schizophrenia | journal = Molecular Psychiatry | volume = 9 | issue = 6 | pages = 603–8 | date = June 2004 | pmid = 14699426 | doi = 10.1038/sj.mp.4001461 }}
*{{cite journal | author=Wang J, Liu S, Haditsch U, ''et al.'' |title=Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses. |journal=J. Neurosci. |volume=23 |issue= 3 |pages= 826-36 |year= 2003 |pmid= 12574411 |doi= }}
*{{cite journal | author=Pirker S, Schwarzer C, Czech T, ''et al.'' |title=Increased expression of GABA(A) receptor beta-subunits in the hippocampus of patients with temporal lobe epilepsy. |journal=J. Neuropathol. Exp. Neurol. |volume=62 |issue= 8 |pages= 820-34 |year= 2003 |pmid= 14503638 |doi=  }}
*{{cite journal  | author=Mercik K, Pytel M, Mozrzymas JW |title=Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics. |journal=Neurosci. Lett. |volume=352 |issue= 3 |pages= 195-8 |year= 2004 |pmid= 14625018 |doi=  }}
*{{cite journal  | author=Lo WS, Lau CF, Xuan Z, ''et al.'' |title=Association of SNPs and haplotypes in GABAA receptor beta2 gene with schizophrenia. |journal=Mol. Psychiatry |volume=9 |issue= 6 |pages= 603-8 |year= 2005 |pmid= 14699426 |doi= 10.1038/sj.mp.4001461 }}
}}
{{refend}}
{{refend}}


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* {{MeshName|GABRB2+protein,+human}}
* {{MeshName|GABRB2+protein,+human}}


{{membrane-protein-stub}}
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{{Ligand-gated ion channels}}
{{Ligand-gated ion channels}}
[[Category:Ion channels]]
[[Category:Ion channels]]
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{{membrane-protein-stub}}

Revision as of 01:52, 27 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Gamma-aminobutyric acid receptor subunit beta-2 is a protein that in humans is encoded by the GABRB2 gene.[1][2]

Function

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.[2]

Clinical significance

Missense mutations of GABRB2 have been identified in patients with infantile onset epilepsy and intellectual disability.[3][4]

Interactions

GABRB2 has been shown to interact with TRAK2.[5]

See also

References

  1. Russek SJ, Farb DH (October 1994). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform". Genomics. 23 (3): 528–33. doi:10.1006/geno.1994.1539. PMID 7851879.
  2. 2.0 2.1 "Entrez Gene: GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2".
  3. Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A (November 2014). "A novel variant in GABRB2 associated with intellectual disability and epilepsy". American Journal of Medical Genetics. Part A. 164A (11): 2914–21. doi:10.1002/ajmg.a.36714. PMC 4205182. PMID 25124326.
  4. Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S (October 2016). "A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy". Journal of Medical Genetics. 54: jmedgenet–2016–104083. doi:10.1136/jmedgenet-2016-104083. PMID 27789573.
  5. Beck M, Brickley K, Wilkinson HL, Sharma S, Smith M, Chazot PL, Pollard S, Stephenson FA (August 2002). "Identification, molecular cloning, and characterization of a novel GABAA receptor-associated protein, GRIF-1". The Journal of Biological Chemistry. 277 (33): 30079–90. doi:10.1074/jbc.M200438200. PMID 12034717.

Further reading

  • Moss SJ, Doherty CA, Huganir RL (July 1992). "Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor". The Journal of Biological Chemistry. 267 (20): 14470–6. PMID 1321150.
  • Kellenberger S, Malherbe P, Sigel E (December 1992). "Function of the alpha 1 beta 2 gamma 2S gamma-aminobutyric acid type A receptor is modulated by protein kinase C via multiple phosphorylation sites". The Journal of Biological Chemistry. 267 (36): 25660–3. PMID 1334482.
  • McKinley DD, Lennon DJ, Carter DB (January 1995). "Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor". Brain Research. Molecular Brain Research. 28 (1): 175–9. doi:10.1016/0169-328X(94)00228-7. PMID 7707873.
  • Tögel M, Mossier B, Fuchs K, Sieghart W (April 1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". The Journal of Biological Chemistry. 269 (17): 12993–8. PMID 8175718.
  • Hadingham KL, Wingrove PB, Wafford KA, Bain C, Kemp JA, Palmer KJ, Wilson AW, Wilcox AS, Sikela JM, Ragan CI (December 1993). "Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors". Molecular Pharmacology. 44 (6): 1211–8. PMID 8264558.
  • Akbarian S, Huntsman MM, Kim JJ, Tafazzoli A, Potkin SG, Bunney WE, Jones EG (1996). "GABAA receptor subunit gene expression in human prefrontal cortex: comparison of schizophrenics and controls". Cerebral Cortex. 5 (6): 550–60. doi:10.1093/cercor/5.6.550. PMID 8590827.
  • Longson D, Longson CM, Jones EG (April 1997). "Localization of CAM II kinase-alpha, GAD, GluR2 and GABA(A) receptor subunit mRNAs in the human entorhinal cortex". The European Journal of Neuroscience. 9 (4): 662–75. doi:10.1111/j.1460-9568.1997.tb01415.x. PMID 9153573.
  • Russek SJ (February 1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene. 227 (2): 213–22. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064.
  • Bonnert TP, McKernan RM, Farrar S, le Bourdellès B, Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford KA, Whiting PJ (August 1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proceedings of the National Academy of Sciences of the United States of America. 96 (17): 9891–6. doi:10.1073/pnas.96.17.9891. PMC 22306. PMID 10449790.
  • Brooks-Kayal AR, Shumate MD, Jin H, Lin DD, Rikhter TY, Holloway KL, Coulter DA (October 1999). "Human neuronal gamma-aminobutyric acid(A) receptors: coordinated subunit mRNA expression and functional correlates in individual dentate granule cells". The Journal of Neuroscience. 19 (19): 8312–8. PMID 10493732.
  • Buckley ST, Eckert AL, Dodd PR (September 2000). "Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex". Annals of the New York Academy of Sciences. 914: 58–64. doi:10.1111/j.1749-6632.2000.tb05183.x. PMID 11085308.
  • Salim K, Fenton T, Bacha J, Urien-Rodriguez H, Bonnert T, Skynner HA, Watts E, Kerby J, Heald A, Beer M, McAllister G, Guest PC (May 2002). "Oligomerization of G-protein-coupled receptors shown by selective co-immunoprecipitation". The Journal of Biological Chemistry. 277 (18): 15482–5. doi:10.1074/jbc.M201539200. PMID 11854302.
  • Beck M, Brickley K, Wilkinson HL, Sharma S, Smith M, Chazot PL, Pollard S, Stephenson FA (August 2002). "Identification, molecular cloning, and characterization of a novel GABAA receptor-associated protein, GRIF-1". The Journal of Biological Chemistry. 277 (33): 30079–90. doi:10.1074/jbc.M200438200. PMID 12034717.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.