GABRD [The Human Chemical-Genetic Interaction Map Project]

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======= GABRD =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GABRD
  * **<color #00a2e8>Official Name</color>**: gamma-aminobutyric acid type A receptor subunit delta
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2563|2563]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O14764|O14764]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GABRD&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GABRD|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/137163|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

<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'>
|GABA-A receptor activity|
|GABA-A receptor complex|
|transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential|
|integral component of postsynaptic membrane|
|chloride channel complex|
|extracellular ligand-gated ion channel activity|
|chloride channel activity|
|GABA-ergic synapse|
|chloride transmembrane transport|
|regulation of postsynaptic membrane potential|
|chloride transport|
|inorganic anion transmembrane transport|
|inorganic anion transport|
|synapse|
|anion transmembrane transport|
|neuron projection|
|glutamatergic synapse|
|anterograde trans-synaptic signaling|
|chemical synaptic transmission|
|regulation of membrane potential|
|trans-synaptic signaling|
|synaptic signaling|
|cell junction|
|anion transport|
|inorganic ion transmembrane transport|
|ion transmembrane transport|
|cell-cell signaling|
|transmembrane transport|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hars|HARS]]|0.413|
</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>**: 14426
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.8 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GABRD Expression in NALM6 Cells: -3.8'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>