Entity Details

Primary name GNAL
Entity type gene
Source Source Link

Details

PrimaryID2774
RefseqGeneNG_033866
SymbolGNAL
NameG protein subunit alpha L
Chromosome18
Location18p11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-12-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGNAL_HUMAN

GO terms

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GOName
GO:0001664 G protein-coupled receptor binding
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0007165 signal transduction
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
GO:0007606 sensory perception of chemical stimulus
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
615073 OMIMDystonia 25 (DYT25)A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. The disease is caused by variants affecting the gene represented in this entry.