Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2774
Gene name Gene Name - the full gene name approved by the HGNC.
G protein subunit alpha L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNAL
Synonyms (NCBI Gene) Gene synonyms aliases
DYT25, HG1O
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DYT25
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IBA 21873635
GO:0003924 Function GTPase activity IBA 21873635
GO:0005515 Function Protein binding IPI 23994616
GO:0005525 Function GTP binding IEA
GO:0005834 Component Heterotrimeric G-protein complex IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
139312 4388 ENSG00000141404
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dystonia Dystonia Disorders, Idiopathic familial dystonia, Adult-Onset Dystonias, Adult-Onset Idiopathic Focal Dystonias, Adult-Onset Idiopathic Torsion Dystonias, Autosomal Dominant Familial Dystonia, Autosomal Recessive Familial Dystonia, Childhood Onset Dystonias, Dystonia, Primary, Dystonia, Secondary, Dystonias, Sporadic, Familial Dystonia, DYSTONIA 25, Autosomal dominant focal dystonia, DYT25 type rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440
View all (136 more)
23222958, 26725140, 26506956, 27093447, 24729450, 23449625, 27222887, 24408567
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
11317223
Associations from Text Mining
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