GNAO1 (G protein subunit alpha o1)

2006-10-01  

Identity

HGNC
GNAO1
LOCATION
16q13
LOCUSID
2775
ALIAS
DEE17,EIEE17,G-ALPHA-o,GNAO,HLA-DQB1,NEDIM
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2775
MIM: 139311
HGNC: 4389
Ensembl: ENSG00000087258

Variants:

dbSNP: 2775
ClinVar: 2775
TCGA: ENSG00000087258
COSMIC: GNAO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087258ENST00000262493P09471
ENSG00000087258ENST00000262494P09471
ENSG00000087258ENST00000562316H3BTM2
ENSG00000087258ENST00000563661A0A1W2PRJ7
ENSG00000087258ENST00000564727H3BNR5
ENSG00000087258ENST00000568375A0A1W2PPG6
ENSG00000087258ENST00000569295A0A1W2PRE1
ENSG00000087258ENST00000570235A0A087WTB6
ENSG00000087258ENST00000638705P09471
ENSG00000087258ENST00000639268A0A1W2PP87
ENSG00000087258ENST00000639341A0A1W2PP38
ENSG00000087258ENST00000639770A0A1W2PQK2
ENSG00000087258ENST00000640469A0A1W2PQ24
ENSG00000087258ENST00000640893A0A1W2PS82

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Long-term depressionKEGGko04730
MelanogenesisKEGGko04916
Long-term depressionKEGGhsa04730
MelanogenesisKEGGhsa04916
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Cholinergic synapseKEGGhsa04725
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
Opioid SignallingREACTOMER-HSA-111885
G-protein activationREACTOMER-HSA-202040
G-protein mediated eventsREACTOMER-HSA-112040
PLC beta mediated eventsREACTOMER-HSA-112043
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
Ca2+ pathwayREACTOMER-HSA-4086398
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta foldingREACTOMER-HSA-6814122

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
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
369808172023Visual Function in Children with GNAO1-Related Encephalopathy.1
370344442023Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.1
372254062023Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.4
378873132023Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.0
369808172023Visual Function in Children with GNAO1-Related Encephalopathy.1
370344442023Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.1
372254062023Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.4
378873132023Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.0
352927272022G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1.4
357227752022Highlighting the Dystonic Phenotype Related to GNAO1.9
352927272022G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1.4
357227752022Highlighting the Dystonic Phenotype Related to GNAO1.9
328988632021Identification of functional cooperative mutations of GNAO1 in human acute lymphoblastic leukemia.10
334084142021Structures of the glucocorticoid-bound adhesion receptor GPR97-G(o) complex.51
334429002021Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.3

Citation

Dessen P

GNAO1 (G protein subunit alpha o1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43279/img/css/favicon/favicon-32x32.png