nih-gov/www.ncbi.nlm.nih.gov/omim/600233

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Entry
- *600233 - GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3
- OMIM
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<span class="h4">*600233</span>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://hprd.org/summary?hprd_id=02579&isoform_id=02579_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
<div><a href="https://www.proteinatlas.org/search/GABRG3" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/protein/1754749,7530452,9802370,13959689,110347416,119578062,119578063,399567821" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=GABRG3" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/GABRG3" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=GABRG3" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog&nbsp;</a></div>
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008551;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008551&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00013914;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00013914&nbsp;</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070718-5" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
600233
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
GABA-A RECEPTOR, GAMMA-3 POLYPEPTIDE
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GABRG3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GABRG3</a></em></strong>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/15/38?start=-3&limit=10&highlight=38">15q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:26971181-27541984&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:26,971,181-27,541,984</a> </span>
</em>
</strong>
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<h4>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</h4>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>Gamma-aminobutyric acid (GABA) receptors are a family of proteins involved in the GABAergic neurotransmission of the mammalian central nervous system. GABRG3 is a member of the GABA-A receptor gene family of heteromeric pentameric ligand-gated ion channels through which GABA, the major inhibitory neurotransmitter in the mammalian brain, acts. GABA-A receptors are the site of action of a number of important pharmacologic agents including barbiturates, benzodiazepines, and ethanol (summary by <a href="#4" class="mim-tip-reference" title="Whiting, P. J., Bonnert, T. P., McKernan, R. M., Farrar, S., le Bourdelles, B., Heavens, R. P., Smith, D. W., Hewson, L., Rigby, M. R., Sirinathsinghji, D. J. S., Thompson, S. A., Wafford, K. A. &lt;strong&gt;Molecular and functional diversity of the expanding GABA-A receptor gene family.&lt;/strong&gt; Ann. N.Y. Acad. Sci. 868: 645-653, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10414349/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10414349&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1749-6632.1999.tb11341.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10414349">Whiting et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10414349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For additional general information about the GABA-A receptor gene family, see GABRA1 (<a href="/entry/137160">137160</a>).</p>
</span>
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</div>
<div>
<a id="cloning" class="mim-anchor"></a>
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Cloning and Expression</strong>
</span>
</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#1" class="mim-tip-reference" title="Greger, V., Knoll, J. H. M., Woolf, E., Glatt, K., Tyndale, R. F., DeLorey, T. M., Olsen, R. W., Tobin, A. J., Sikela, J. M., Nakatsu, Y., Brilliant, M. H., Whiting, P. J., Lalande, M. &lt;strong&gt;The gamma-aminobutyric acid receptor gamma-3 subunit gene (GABRG3) is tightly linked to the alpha-5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation.&lt;/strong&gt; Genomics 26: 258-264, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7601451/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7601451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(95)80209-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7601451">Greger et al. (1995)</a> cloned the gene for the gamma-3 subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
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<span class="mim-text-font">
<p><a href="#3" class="mim-tip-reference" title="Russek, S. J., Farb, D. H. &lt;strong&gt;Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform.&lt;/strong&gt; Genomics 23: 528-533, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7851879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7851879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7851879">Russek and Farb (1994)</a> stated that the GABRG3 is located on 15q11-q13 in a cluster with GABRA5 (<a href="/entry/137142">137142</a>) and GABRB3 (<a href="/entry/137192">137192</a>). Thus, there is an alpha/beta/gamma cluster of GABA receptor subunit subtype genes on 3 chromosomes, 15, 5, and 3. <a href="#3" class="mim-tip-reference" title="Russek, S. J., Farb, D. H. &lt;strong&gt;Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform.&lt;/strong&gt; Genomics 23: 528-533, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7851879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7851879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7851879">Russek and Farb (1994)</a> suggested that these may have originated from chromosome 15 because the centromere of that chromosome is associated with increased amounts of satellite DNA and translocations occur more frequently around such centromeres. Thus, it can be speculated that the ancestral GABA-A receptor gene cluster formed on chromosome 15 and thereafter spawned the clusters on chromosomes 4 and 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7851879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Greger, V., Knoll, J. H. M., Woolf, E., Glatt, K., Tyndale, R. F., DeLorey, T. M., Olsen, R. W., Tobin, A. J., Sikela, J. M., Nakatsu, Y., Brilliant, M. H., Whiting, P. J., Lalande, M. &lt;strong&gt;The gamma-aminobutyric acid receptor gamma-3 subunit gene (GABRG3) is tightly linked to the alpha-5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation.&lt;/strong&gt; Genomics 26: 258-264, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7601451/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7601451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(95)80209-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7601451">Greger et al. (1995)</a> showed that the GABRG3 gene is 35 kb from the alpha-5 subunit gene which, in turn, is about 100 kb from the beta-3 subunit locus. The latter is located at the centromeric end of the cluster and is transcribed in the opposite direction of GABRG3 and GABRA5. This orientation of the cluster is opposite that reported by <a href="#3" class="mim-tip-reference" title="Russek, S. J., Farb, D. H. &lt;strong&gt;Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform.&lt;/strong&gt; Genomics 23: 528-533, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7851879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7851879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7851879">Russek and Farb (1994)</a>. <a href="#1" class="mim-tip-reference" title="Greger, V., Knoll, J. H. M., Woolf, E., Glatt, K., Tyndale, R. F., DeLorey, T. M., Olsen, R. W., Tobin, A. J., Sikela, J. M., Nakatsu, Y., Brilliant, M. H., Whiting, P. J., Lalande, M. &lt;strong&gt;The gamma-aminobutyric acid receptor gamma-3 subunit gene (GABRG3) is tightly linked to the alpha-5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation.&lt;/strong&gt; Genomics 26: 258-264, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7601451/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7601451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(95)80209-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7601451">Greger et al. (1995)</a> confirmed that the GABRG3 gene maps to 15q11-q13 and they verified the order of the genes by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7851879+7601451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
<a id="geneFunction" class="mim-anchor"></a>
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Function</strong>
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<p>Using coding SNPs within the GABA receptor gene cluster on chromosome 15q11-q13, <a href="#2" class="mim-tip-reference" title="Hogart, A., Nagarajan, R. P., Patzel, K. A., Yasui, D. H., Lasalle, J. M. &lt;strong&gt;15q11-13 GABA(A) receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.&lt;/strong&gt; Hum. Molec. Genet. 16: 691-703, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17339270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17339270&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17339270[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm014&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17339270">Hogart et al. (2007)</a> demonstrated that the GABRG3, GABRB3, and GABRA5 genes were biallelically expressed in the cerebral cortex of 21 postmortem human brain samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17339270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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<br />
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<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<li>
<a id="1" class="mim-anchor"></a>
<a id="Greger1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greger, V., Knoll, J. H. M., Woolf, E., Glatt, K., Tyndale, R. F., DeLorey, T. M., Olsen, R. W., Tobin, A. J., Sikela, J. M., Nakatsu, Y., Brilliant, M. H., Whiting, P. J., Lalande, M.
<strong>The gamma-aminobutyric acid receptor gamma-3 subunit gene (GABRG3) is tightly linked to the alpha-5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation.</strong>
Genomics 26: 258-264, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0888-7543(95)80209-5" target="_blank">Full Text</a>]
</p>
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Hogart2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hogart, A., Nagarajan, R. P., Patzel, K. A., Yasui, D. H., Lasalle, J. M.
<strong>15q11-13 GABA(A) receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.</strong>
Hum. Molec. Genet. 16: 691-703, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17339270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17339270</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17339270[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17339270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddm014" target="_blank">Full Text</a>]
</p>
</div>
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<a id="3" class="mim-anchor"></a>
<a id="Russek1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Russek, S. J., Farb, D. H.
<strong>Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform.</strong>
Genomics 23: 528-533, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7851879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1994.1539" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Whiting1999" class="mim-anchor"></a>
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Whiting, P. J., Bonnert, T. P., McKernan, R. M., Farrar, S., le Bourdelles, B., Heavens, R. P., Smith, D. W., Hewson, L., Rigby, M. R., Sirinathsinghji, D. J. S., Thompson, S. A., Wafford, K. A.
<strong>Molecular and functional diversity of the expanding GABA-A receptor gene family.</strong>
Ann. N.Y. Acad. Sci. 868: 645-653, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10414349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10414349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10414349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1749-6632.1999.tb11341.x" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 7/13/2010
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<span class="mim-text-font">
Alan F. Scott - updated : 11/10/1995
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Victor A. McKusick : 12/13/1994
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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wwang : 07/14/2010
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ckniffin : 7/13/2010<br>carol : 12/3/2009<br>mark : 4/10/1997<br>joanna : 1/16/1997<br>mark : 11/10/1995<br>carol : 12/13/1994
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<strong>*</strong> 600233
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<h3>
<span class="mim-font">
GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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GABA-A RECEPTOR, GAMMA-3 POLYPEPTIDE
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<strong><em>HGNC Approved Gene Symbol: GABRG3</em></strong>
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<strong>
<em>
Cytogenetic location: 15q12
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : 15:26,971,181-27,541,984 </span>
</em>
</strong>
<span class="small">(from NCBI)</span>
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<span class="mim-font">
<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Gamma-aminobutyric acid (GABA) receptors are a family of proteins involved in the GABAergic neurotransmission of the mammalian central nervous system. GABRG3 is a member of the GABA-A receptor gene family of heteromeric pentameric ligand-gated ion channels through which GABA, the major inhibitory neurotransmitter in the mammalian brain, acts. GABA-A receptors are the site of action of a number of important pharmacologic agents including barbiturates, benzodiazepines, and ethanol (summary by Whiting et al., 1999). </p><p>For additional general information about the GABA-A receptor gene family, see GABRA1 (137160).</p>
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<strong>Cloning and Expression</strong>
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<p>Greger et al. (1995) cloned the gene for the gamma-3 subunit. </p>
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<strong>Mapping</strong>
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<p>Russek and Farb (1994) stated that the GABRG3 is located on 15q11-q13 in a cluster with GABRA5 (137142) and GABRB3 (137192). Thus, there is an alpha/beta/gamma cluster of GABA receptor subunit subtype genes on 3 chromosomes, 15, 5, and 3. Russek and Farb (1994) suggested that these may have originated from chromosome 15 because the centromere of that chromosome is associated with increased amounts of satellite DNA and translocations occur more frequently around such centromeres. Thus, it can be speculated that the ancestral GABA-A receptor gene cluster formed on chromosome 15 and thereafter spawned the clusters on chromosomes 4 and 5. </p><p>Greger et al. (1995) showed that the GABRG3 gene is 35 kb from the alpha-5 subunit gene which, in turn, is about 100 kb from the beta-3 subunit locus. The latter is located at the centromeric end of the cluster and is transcribed in the opposite direction of GABRG3 and GABRA5. This orientation of the cluster is opposite that reported by Russek and Farb (1994). Greger et al. (1995) confirmed that the GABRG3 gene maps to 15q11-q13 and they verified the order of the genes by fluorescence in situ hybridization. </p>
</span>
<div>
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<span class="mim-font">
<strong>Gene Function</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>Using coding SNPs within the GABA receptor gene cluster on chromosome 15q11-q13, Hogart et al. (2007) demonstrated that the GABRG3, GABRB3, and GABRA5 genes were biallelically expressed in the cerebral cortex of 21 postmortem human brain samples. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Greger, V., Knoll, J. H. M., Woolf, E., Glatt, K., Tyndale, R. F., DeLorey, T. M., Olsen, R. W., Tobin, A. J., Sikela, J. M., Nakatsu, Y., Brilliant, M. H., Whiting, P. J., Lalande, M.
<strong>The gamma-aminobutyric acid receptor gamma-3 subunit gene (GABRG3) is tightly linked to the alpha-5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation.</strong>
Genomics 26: 258-264, 1995.
[PubMed: 7601451]
[Full Text: https://doi.org/10.1016/0888-7543(95)80209-5]
</p>
</li>
<li>
<p class="mim-text-font">
Hogart, A., Nagarajan, R. P., Patzel, K. A., Yasui, D. H., Lasalle, J. M.
<strong>15q11-13 GABA(A) receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.</strong>
Hum. Molec. Genet. 16: 691-703, 2007.
[PubMed: 17339270]
[Full Text: https://doi.org/10.1093/hmg/ddm014]
</p>
</li>
<li>
<p class="mim-text-font">
Russek, S. J., Farb, D. H.
<strong>Mapping of the beta-2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABA-A receptor isoform.</strong>
Genomics 23: 528-533, 1994.
[PubMed: 7851879]
[Full Text: https://doi.org/10.1006/geno.1994.1539]
</p>
</li>
<li>
<p class="mim-text-font">
Whiting, P. J., Bonnert, T. P., McKernan, R. M., Farrar, S., le Bourdelles, B., Heavens, R. P., Smith, D. W., Hewson, L., Rigby, M. R., Sirinathsinghji, D. J. S., Thompson, S. A., Wafford, K. A.
<strong>Molecular and functional diversity of the expanding GABA-A receptor gene family.</strong>
Ann. N.Y. Acad. Sci. 868: 645-653, 1999.
[PubMed: 10414349]
[Full Text: https://doi.org/10.1111/j.1749-6632.1999.tb11341.x]
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Cassandra L. Kniffin - updated : 7/13/2010<br>Alan F. Scott - updated : 11/10/1995
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