GABRB3 [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= GABRB3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GABRB3
  * **<color #00a2e8>Official Name</color>**: gamma-aminobutyric acid type A receptor subunit beta3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2562|2562]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P28472|P28472]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GABRB3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GABRB3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/137192|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel. {ECO:0000269|PubMed:18281286, ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22243422, ECO:0000269|PubMed:22303015, ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:26950270}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Neur chan memb|
|Neur chan LBD|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cellular response to histamine|
|inhibitory synapse assembly|
|inhibitory postsynaptic potential|
|response to histamine|
|GABA-gated chloride ion channel activity|
|GABA-A receptor complex|
|GABA-A receptor activity|
|gamma-aminobutyric acid signaling pathway|
|innervation|
|transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential|
|inner ear receptor cell development|
|chloride channel complex|
|extracellular ligand-gated ion channel activity|
|cochlea development|
|inner ear receptor cell differentiation|
|mechanoreceptor differentiation|
|GABA-ergic synapse|
|chemical synaptic transmission, postsynaptic|
|nerve development|
|chloride transmembrane transport|
|roof of mouth development|
|synapse assembly|
|regulation of postsynaptic membrane potential|
|chloride transport|
|inorganic anion transmembrane transport|
|cellular response to ammonium ion|
|cytoplasmic vesicle membrane|
|negative regulation of neuron apoptotic process|
|sensory perception of sound|
|inorganic anion transport|
|sensory perception of mechanical stimulus|
|response to ammonium ion|
|inner ear development|
|postsynaptic membrane|
|regulation of neuron apoptotic process|
|negative regulation of neuron death|
|ear development|
|synapse|
|synapse organization|
|anion transmembrane transport|
|regulation of neuron death|
|neuron projection|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|cell surface receptor signaling pathway involved in cell-cell signaling|
|regulation of membrane potential|
|trans-synaptic signaling|
|synaptic signaling|
|cellular response to organic cyclic compound|
|sensory organ development|
|cell junction|
|anion transport|
|cellular response to organonitrogen compound|
|inorganic ion transmembrane transport|
|cellular response to nitrogen compound|
|neuron development|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|response to organic cyclic compound|
|ion transmembrane transport|
|sensory perception|
|negative regulation of cell death|
|response to organonitrogen compound|
|neuron differentiation|
|identical protein binding|
|response to nitrogen compound|
|cell-cell signaling|
|cellular response to endogenous stimulus|
|transmembrane transport|
|G protein-coupled receptor signaling pathway|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|response to endogenous stimulus|
|generation of neurons|
|regulation of apoptotic process|
|regulation of programmed cell death|
|neurogenesis|
|cell development|
|regulation of cell death|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|1.78|
|[[:results:exp494|Isoniazid 100μM R08 exp494]]|1.88|
|[[:results:exp436|Dynasore 7μM R08 exp436]]|1.94|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9234
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.25 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GABRB3 Expression in NALM6 Cells: 2.25'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>