GNAL (G protein subunit alpha L)

2006-10-01  

Identity

HGNC
LOCATION
18p11.21
LOCUSID
ALIAS
DYT25
FUSION GENES

Other Information

Locus ID:

NCBI: 2774
MIM: 139312
HGNC: 4388
Ensembl: ENSG00000141404

Variants:

dbSNP: 2774
ClinVar: 2774
TCGA: ENSG00000141404
COSMIC: GNAL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141404ENST00000269162P38405
ENSG00000141404ENST00000269162A8K1Y9
ENSG00000141404ENST00000334049P38405
ENSG00000141404ENST00000423027P38405
ENSG00000141404ENST00000423027A8K1Y9
ENSG00000141404ENST00000535121P38405
ENSG00000141404ENST00000535121A8K1Y9
ENSG00000141404ENST00000585642K7EPE2
ENSG00000141404ENST00000586926K7EMY6
ENSG00000141404ENST00000590228K7EQ80
ENSG00000141404ENST00000602628P38405

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Olfactory transductionKEGGko04740
Calcium signaling pathwayKEGGhsa04020
Olfactory transductionKEGGhsa04740
Parkinson's diseaseKEGGhsa05012
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA B receptor activationREACTOMER-HSA-977444
Activation of GABAB receptorsREACTOMER-HSA-991365
Inhibition of adenylate cyclase pathwayREACTOMER-HSA-997269
Adenylate cyclase inhibitory pathwayREACTOMER-HSA-170670
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
Olfactory Signaling PathwayREACTOMER-HSA-381753
Opioid SignallingREACTOMER-HSA-111885
G-protein mediated eventsREACTOMER-HSA-112040
Adenylate cyclase activating pathwayREACTOMER-HSA-170660

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232229582013Mutations in GNAL cause primary torsion dystonia.79
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
245355672014Mutations in GNAL: a novel cause of craniocervical dystonia.20
241448822013New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.17
160441732005Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.14
171665172008Investigation of the G protein subunit Galphaolf gene (GNAL) in attention deficit/hyperactivity disorder.13
193285582009Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.11
241511592014Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.9
245008572014Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.9
270934472016GNAL mutation in isolated laryngeal dystonia.9

Citation

Dessen P

GNAL (G protein subunit alpha L)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43278/gnal