GNAL (G protein subunit alpha L)

2006-10-01  

Identity

HGNC
GNAL
LOCATION
18p11.21
LOCUSID
2774
ALIAS
DYT25
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
305369162019Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.6
305369162019Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.6
267251402016Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.12
268107272016Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.5
270934472016GNAL mutation in isolated laryngeal dystonia.15
267251402016Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.12
268107272016Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.5
270934472016GNAL mutation in isolated laryngeal dystonia.15
258475752015Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.5
263657742015Mutations in GNAL gene in 214 cases with isolated dystonia.1
258475752015Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.5
263657742015Mutations in GNAL gene in 214 cases with isolated dystonia.1
241511592014Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.12
242220992014No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.2
244085672014Screening of mutations in GNAL in sporadic dystonia patients.6

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-(g-protein-subunit-alpha-l)