Gene Gene information from NCBI Gene database.
Entrez ID 2774
Gene name G protein subunit alpha L
Gene symbol GNAL
Synonyms (NCBI Gene)
DYT25HG1O
Chromosome 18
Chromosome location 18p11.21
Summary This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutatio
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs398122923 G>A Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant
rs398122924 C>A Pathogenic Genic downstream transcript variant, coding sequence variant, stop gained
rs398122925 G>A Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant
rs398122926 ->T Pathogenic Frameshift variant, coding sequence variant, genic upstream transcript variant
rs398122927 ->A Pathogenic 5 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
374
miRTarBase ID miRNA Experiments Reference
MIRT051131 hsa-miR-16-5p CLASH 23622248
MIRT048626 hsa-miR-99a-5p CLASH 23622248
MIRT047629 hsa-miR-10a-5p CLASH 23622248
MIRT476279 hsa-miR-489-3p HITS-CLIP 21572407
MIRT476278 hsa-miR-409-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001975 Process Response to amphetamine IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139312 4388 ENSG00000141404
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P38405
Protein name Guanine nucleotide-binding protein G(olf) subunit alpha (EC 3.6.5.-) (Adenylate cyclase-stimulating G alpha protein, olfactory type)
Protein function Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs) (By similarity). Contains the guanine nucleotide binding site and alternates between an acti
PDB 8EL8 , 8IW1 , 8KGK , 8KH4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha 22 370 G-protein alpha subunit Domain
Tissue specificity TISSUE SPECIFICITY: Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen (PubMed:8243272). Trace amounts where seen in kidney, adrenal gland and liver (PubMed:8243272). Found to be expressed in all th
Sequence
Sequence length 381
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Dopaminergic synapse
Olfactory transduction
Parkinson disease
Chagas disease
Amoebiasis
  Adenylate cyclase activating pathway
Adenylate cyclase inhibitory pathway
Olfactory Signaling Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
154
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dysarthria Likely pathogenic rs1598429555 RCV001003996
Dystonia 25 Likely pathogenic; Pathogenic rs2510479553, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs1252185897 RCV003993561
RCV000033102
RCV000033103
RCV000033104
RCV000033105
RCV000033106
RCV000768577
Dystonic disorder Likely pathogenic; Pathogenic rs2032882195, rs2143097031, rs2143096767, rs2143650879, rs2510353223, rs2510535483, rs2510259475, rs1252185897 RCV001348008
RCV001941774
RCV001993286
RCV001972728
RCV003050498
RCV003064500
RCV003587429
RCV005092208
Limb dystonia Likely pathogenic rs1598429555 RCV001003996
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs3892113 RCV005897360
Clear cell carcinoma of kidney Benign; Likely benign rs73397885 RCV005895244
GNAL-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs746050895, rs370118361, rs201861102, rs368954074, rs73397885, rs2547802173, rs181443061, rs76888098, rs182262644, rs201898548, rs371094261 RCV003956043
RCV003940981
RCV003968598
RCV003963716
RCV003919939
RCV003942175
RCV003972792
RCV003960252
RCV003945582
RCV003921284
RCV003928792
Malignant lymphoma, large B-cell, diffuse Benign rs3892113 RCV005897357
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 27093447
Attention Deficit Disorder with Hyperactivity Associate 17166517
Auditory Perceptual Disorders Associate 17166517
Autoimmune Hypophysitis Associate 31611368
Bipolar Disorder Associate 19859903
Carcinogenesis Associate 19457610
Carcinoma Hepatocellular Associate 24988079
Cardiovascular Diseases Associate 31611368
Diabetes Mellitus Type 1 Associate 33029194
Disruptive Impulse Control and Conduct Disorders Associate 17166517