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γ2

Family: GABAA receptors

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Tissue Distribution
Physiological Consequences of Altering Gene Expression
Clinically-Relevant Mutations and Pathophysiology
Biologically Significant Variants
References
Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 475 5q31.1-q33.1 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 26,40
Mouse 4 474 11 A5 Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 38
Rat 4 466 10q21 Gabrg2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 29
Previous and Unofficial Names
CAE2
ECA2
GEFSP3
Gabrg-2
RP23-227J8.1
AI851231
BB128510
gamma2
GABA(A) receptor, gamma 2
GABA(A) receptor subunit gamma-2
gamma-aminobutyric acid (GABA-A) receptor subunit gamma 2
gamma-aminobutyric acid (GABA-A) receptor, subunit gamma 2
gamma-aminobutyric acid A receptor, gamma 2
gamma-aminobutyric acid receptor subunit gamma-2
GABAA-R
Database Links
ChEMBL Target 217 (Hs), 11493 (Mm), 11494 (Rn)
Ensembl ENSG00000113327 (Hs), ENSMUSG00000020436 (Mm), ENSRNOG00000003241 (Rn)
Entrez Gene 2566 (Hs), 14406 (Mm), 29709 (Rn)
GeneCards GABRG2 (Hs)
GenitoUrinary Development Molecular Anatomy Project Gabrg2 (Mm)
HomoloGene 22443 (Hs)
Human Protein Reference Database 00663 (Hs)
InterPro P18507 (Hs), P22723 (Mm), P18508 (Rn)
KEGG Gene hsa:2566 (Hs), mmu:14406 (Mm), rno:29709 (Rn)
OMIM 137164 (Hs)
Orphanet Gene ORPHA121993 (Hs)
PharmGKB Gene PA28501 (Hs)
PhosphoSitePlus P18507 (Hs), P22723 (Mm), Q6PW52 (Rn)
Protein Ontology (PRO) PRO:000007778 (Hs)
RefSeq Nucleotide NM_198904 (Hs), NM_008073 (Mm), NM_183327 (Rn)
RefSeq Protein NP_944494 (Hs), NP_032099 (Mm), NP_899156 (Rn)
TreeFam ENSG00000113327 (Hs), ENSMUSG00000020436 (Mm), ENSRNOG00000003241 (Rn)
UniGene Hs. 7195 (Hs)
UniProt P18507 (Hs), P22723 (Mm), P18508 (Rn)
Wikipedia γ2
GABAA receptors
Search for 3D structures on the PDB
Search by keyword: GABAA receptors γ2 Search by accession number: P18507, P18508, P22723
Natural/Endogenous Ligand(s)
GABA
Tissue Distribution
Olfactory bulb (mitral cells), pyriform cortex, hippocampus (CA1, CA3, dentate gyrus), erebellum (Purkinje cells)
Expression level:  High
Species:  Rat
Technique:  In situ hybridisation
References:  41
Olfactory bulb (periglomerular and tufted cells), neocortex (layers II/III, IV, and V/IV), basal nuclei (caudate putamen, nucleus accumbens, globus pallidus, endopeduncular nucleus, claustrum, subthalamic nucleus), amygdala (central medial and lateral amgdaloid nucleus), septum (bed nuleus of stria terminalis, lateral and medial septum, diagonal band), medial habenula, thalamus (paraventricular and rhomboid nucleus, medial geniculate nucleus, parafascicular nucleus, zona incerta), hypothalamus (medial preoptic area, arcuate nucleus, dorsomedial nucleus, ventromedial nucleus), midbrain (red nucleus), inferior colliculi (central nucleus), substantia nigra (pars reticulata, pars compacta), cerebellum (stellate, basket and granule cells)
Expression level:  Medium
Species:  Rat
Technique:  In situ hybridisation
References:  24,41
Olfactory bulb (granule cells), tenia tecta, thalamus (medio dorsal, dorsolateral geniculate, ventrolateral geniculate, ventral posterior nucleus)
Expression level:  Low
Species:  Rat
Technique:  In situ hybridisation
References:  24,41
The γ2 subunit is part on average of at least 80% of all GABA(A) receptors in virtually all neurons across all brain regions including the olfactory system, cerebral cortex, hippocampus, dentate gyrus, amygdala, septal and basal forebrain, cerebral nuclei, thalamus, hypothalamus, midbrain and pons, medulla, cranial nerve nuclei, cerebellum
Expression level:  High
Species:  Rat
Technique:  In situ hybridisation
References:  12,25
Tissue Distribution Comments
The data tabulated for the human and mouse γ2 subunits correspond to transcript variant 1 encoding the variant commonly referred to as γ2L. The data tabulated for rat correspond to transcript variant 2 encoding a shorter version of γ2 (γ2S, 466 amino acid residues) that lacks eight amino acids in the M3-M4 cytoplamic loop region.
Physiological Consequences of Altering Gene Expression
shRNA mediated knock down of γ2 mRNA results in reduced GABAergic innervation of pyramidal cells
Species:  Rat
Tissue:  Brain, cultured hippoxampal neurons
Technique:  shRNA mediated knockdown
References:  19
Conditional homozygous deletion of the γ2 subunit in glutamatergic neurons of the forebrain in the 4th-5th postnatal week results in a lethal epilepsy phenotype (Schweizer et al., 2003).
Species:  Mouse
Tissue:  Forebrain
Technique:  Cre-loxP, CaMKII-Cre mediated recombination
References:  28
A mouse model of the human R82Q mutation (R43Q in the mature peptide), which is associated with familial childhood absence epilepsy (CAE-2), shows behavioral arrest associated with 6-to 7-Hz spike-and-wave discharges, which are blocked by ethosuximide. Mice that are homozygous for the corresponding mutation show a perinatally lethal phenotype comparable to that of γ2 KO mice
Species:  Mouse
Tissue: 
Technique:  Knock-in
References:  34
Heterozygous deletion of the γ2 subunit in mice results in elevated trait anxiety and altered emotional behavior reminiscent of melancholic depression. This phenotype includes increased behavioral sensitivity to diazepam, enhanced trace conditioning and deficits in ambiguous cue discrimination learning but unaltered delay conditioning, context conditioning and spatial learning (Crestani et al., 1999). The γ2+/- model includes reduced survival of adult-born hippocampal neurons, increased behavioral passivity in the forced swim and tail suspension tests (Earnheart et al., 2007), depression related anhedonia in the sucrose consumption test, as well as constitutively elevated serum corticosterone levels (Shen et al., 2010). The anxiety- like but not the depression-related behavior in the forced swim, tail suspension and sucrose consumption tests are reversed with fluoxetine. By contrast, chronic treatment with the tricyclic antidepressant desipramine reverses anxiety and depression related behavior in all four tests and also normalizes HPA axis function (Shen et al., 2010). Conditional deletion of the γ2 subunt indicates that HPA axis dysfunction is independent of a GABA(A) receptor deficit in the hypothalamus. Moreover, γ2-deficit-induced HPA axis dysfunction is insufficient to induce anxiety and depression-related behavior of γ2+/- mice (Shen et al., 2010)
Species:  Mouse
Tissue: 
Technique:  Heteroygous knockout, forebrain glutamatergc neuron-specific heterozygous knockout, developmental stage- specific knockout
References:  8,10,30
Knockout of the γ2 subunit results in loss of 94% of [3H] flumazenil binding sites and loss of 22% of GABA ([3H]SR 95531) binding sites. It is asociated with perinatal lethality with very few mice surviving to maximally the 3rd postnatal week (Gunther et al., 1995). GABA-evoked whole cell currents of dorsal root ganglia neurons are reduced to approx 37% of wildtype controls (Gunther et al., 1995). Loss of the γ2 subunit results in loss of postsynaptic GABA(A) receptors and the subsynaptic scafold protein gephyrin from virtually all GABAergic synapses. Functionally this is reflected in virtually complete loss of GABAergic miniature inhibitory synaptic currents (mIPSCs) (Essrich et al., 1998; Schweizer et al., 2003; Alldred et al., 2005). Similar functional deficits in GABAergic synapses are observed upon cell type-specific knockout of the γ2 subunit (Wulff et al., 2009, 2010).
Species:  Mouse
Tissue:  Brain, dorsal root ganglia, cortical neuron cultures
Technique:  Knockout
References:  2,11,13,28,42-43
Global elimination of the Y365/367 tyrosine phosphorylation site in the major cytoplasmic loop region of the γ2 subunit (Y365/367F) results in reduced endocytosis and increased accumulation of γ2-containing GABA(A) receptors at inhibitory synapses selectively on pyramidal cells of the hippocampal CA3 region. Behaviorally, the mice show impaired spatial object recognition.
Species:  Mouse
Tissue: 
Technique:  Knock-in γ2
References:  35
Transgenic expression of the γ2S or γ2L subunit under control of the human beta actin gene promoter in a γ2 knockout (perinatally lethal) background is sufficient to restore postsynaptic clustering and inhibitory synaptic function of GABA(A) receptors, leading to viable mice without an overt behavioral phenotype
Species:  Mouse
Tissue: 
Technique:  Transgenic expression, knockout
References:  4
Clinically-Relevant Mutations and Pathophysiology
Disease:  Severe myoclonic epilepsy in infancy, SMEI
OMIM:  607208
Orphanet:  33069
Role:  Severe myoclonic epilepsy in infancy is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life (Claes et al., 2001). Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development stagnates around the second year of life. SME is considered to be the most severe phenotype within the spectrum of GEFS+. SME is a malignant epileptic syndrome, while GEFS+ is usually benign (Ohmori et al., 2002). SMEI was first described by Dravet (1978). The syndrome shows both generalized and localized seizure types and EEG paroxysms (Commission on Classification and Terminology of the International League Against Epilepsy, 1989).
References:  1,7,23
Click column headers to sort
Type Species Molecular location Description Reference
Truncation Human Q390X 14
Truncation Human Q40X (first amino acid of mature peptide) 15
Disease:  Epilepsy, Childhood Absence, susceptibility to, 2; ECA2
OMIM:  607681
Orphanet:  64280
Role:  Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. Febrile seizures may occur. There are no structural neuropathologic findings in patients with ECA
Side effects:  Generalized tonic-clonic seizures often develop in adolescence
References:  9
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human R82Q 21,37
Other Human GT->GG Splice donor site in intron 6 17
Disease:  Febrile Convulsions, Familial 8, FEB8
OMIM:  611277
Orphanet:  36387
Role:  Childhood convulsions associated with febrile episodes are relatively common and represent the majority of childhood seizures. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between six months and six years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause (Nabbout et al., 2002). Wallace et al. (2001) reported a four-generation family in which febrile convulsions and childhood absence epilepsy (ECA2; 607681) occurred alone or in combination. The two syndromes have different ages of onset, and the physiology of absences and convulsions is distinct. All affected individuals were found to have the same mutation in the GABRG2 gene (R43Q; 137164.0002). The clinical and molecular data suggest that the γ2 subunit mutation alone can account for the febrile seizure phenotype. An interaction of this gene with another gene or genes is required for the CAE phenotype in this family (Marini et al 2003)
References:  21-22,37
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human R82Q 21,37
Missense Human R177G 3
Other Human GT->GG Splice donor site in intron 6 17
Disease:  Generalized Epilepsy with Febrile Seizures Plus; GEFS+
OMIM:  611277
Orphanet:  36387
Role:  Febrile seizures (OMIM 121210) affect approximately 3% of children under six years of age and are by far the most common seizure disorder. A small proportion of children with febrile seizures later develop ongoing epilepsy with febrile seizures. Segregation analysis suggests that most cases of febrile seizures have complex inheritance, but rare families show apparent autosomal dominant inheritance. Several loci, e.g., FEB1 (121210) on 8q and FEB2 (602477) on 19p, have been related to familial febrile convulsions. Scheffer and Berkovic (1997) and Singh et al. (1999) described a clinical subset, termed 'generalized epilepsy with febrile seizures plus' (GEFS+), in which patients express a highly variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity
References:  27,32
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human K328M 5
Truncation Human Q390X 14
Truncation Human Q429X 33
Clinically-Relevant Mutations and Pathophysiology Comments
Amino acid numbers tabulated refer to full-length precursor proteins encoded by transcript variant 1. Thus, K328M corresponds to K289M, R82Q corresponds to R43Q. R177G correponds to R138G (mislabeled as R139G in Ohmori et al., 2002 [23]) of the mature protein.
Biologically Significant Variants
Transcript variant 2, encodes the γ2S subunit lacking 8 amino acid in the M3-M4 cytoplasmic loop region compared to γ2L
Nucleotide accession:  NM_008073 
Protein accession:  NP_032099 
Amino acids:  466
Type:  Splice variant
Species:  Mouse
References:  6,18
Transcript variant 1 encoding γ2L
Nucleotide accession:  NM_198904 
Protein accession:  NP_944494 
Amino acids:  475
Type:  Splice variant
Species:  Human
References:  16,26
Transcript variant 2, encodes a γ2S subunit lacking 8 amino acid in the M3-M4 cytoplasmic loop region compared to γ2L
Nucleotide accession:  NM_198904 
Protein accession:  NP_944494 
Amino acids:  467
Type:  Splice variant
Species:  Human
References:  16,26
Transcript variant 3, encodes an alternatively spliced version of the γ2 subunit with an additional 40 amino acids in the extracellular domain compared to transcript variants 1 and 2.
Nucleotide accession:  NM_198904 
Protein accession:  NP_944494 
Amino acids:  515
Type:  Splice variant
Species:  Human
References:  16,26
Transcript variant 2, encodes a γ2S subunit lacking 8 amino acid in the M3-M4 cytoplasmic loop region compared to γ2L
Nucleotide accession:  NM_183327 
Protein accession:  NP_899156 
Amino acids:  466
Type:  Splice variant
Species:  Rat
References:  20,31,36
Transcript variant 1 encoding γ2L
Nucleotide accession:  NM_008073 
Protein accession:  NP_032099 
Amino acids:  474
Type:  Splice variant
Species:  Mouse
References:  6
Biologically Significant Variant Comments
A transcript variant 1 of the rat Gabrg2 gene is not currently available in the rat genome database. However, the 24bp acid exon that distinguishes mouse and human transcript variant 1 from transcript variant 2 (encoding LLRMFSFK) is conserved in the rat genomic sequence NM_183327. Transcript variants 1 and 2 are further available for the bovine gene [39].

REFERENCES

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Bernhard Luscher.
GABAA receptors: γ2. Last modified on 11/10/2012. Accessed on 25/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=414.


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