GNAO1 (G protein subunit alpha o1)

2006-10-01 Affiliation

Identity

HGNC

GNAO1

LOCATION

16q13

LOCUSID

2775

ALIAS

DEE17,EIEE17,G-ALPHA-o,GNAO,HLA-DQB1,NEDIM

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000087258	ENST00000262493	P09471
ENSG00000087258	ENST00000262494	P09471
ENSG00000087258	ENST00000562316	H3BTM2
ENSG00000087258	ENST00000563661	A0A1W2PRJ7
ENSG00000087258	ENST00000564727	H3BNR5
ENSG00000087258	ENST00000568375	A0A1W2PPG6
ENSG00000087258	ENST00000569295	A0A1W2PRE1
ENSG00000087258	ENST00000570235	A0A087WTB6
ENSG00000087258	ENST00000638705	P09471
ENSG00000087258	ENST00000639268	A0A1W2PP87
ENSG00000087258	ENST00000639341	A0A1W2PP38
ENSG00000087258	ENST00000639770	A0A1W2PQK2
ENSG00000087258	ENST00000640469	A0A1W2PQ24
ENSG00000087258	ENST00000640893	A0A1W2PS82

Expression (GTEx)

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

Pathway	Source	External ID
Long-term depression	KEGG	ko04730
Melanogenesis	KEGG	ko04916
Long-term depression	KEGG	hsa04730
Melanogenesis	KEGG	hsa04916
Chagas disease (American trypanosomiasis)	KEGG	ko05142
Chagas disease (American trypanosomiasis)	KEGG	hsa05142
Toxoplasmosis	KEGG	ko05145
Toxoplasmosis	KEGG	hsa05145
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Alcoholism	KEGG	hsa05034
Alcoholism	KEGG	ko05034
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Estrogen signaling pathway	KEGG	hsa04915
Estrogen signaling pathway	KEGG	ko04915
Rap1 signaling pathway	KEGG	hsa04015
Rap1 signaling pathway	KEGG	ko04015
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
Metabolism of proteins	REACTOME	R-HSA-392499
Protein folding	REACTOME	R-HSA-391251
Chaperonin-mediated protein folding	REACTOME	R-HSA-390466
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
Opioid Signalling	REACTOME	R-HSA-111885
G-protein activation	REACTOME	R-HSA-202040
G-protein mediated events	REACTOME	R-HSA-112040
PLC beta mediated events	REACTOME	R-HSA-112043
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
Ca2+ pathway	REACTOME	R-HSA-4086398
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	REACTOME	R-HSA-6814122

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
26368330	2016	Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.	27
12039967	2002	Thrombin receptors activate G(o) proteins in endothelial cells to regulate intracellular calcium and cell shape changes.	18
25966631	2016	Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.	14
26060304	2016	Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.	11
24982418	2014	Different biochemical properties explain why two equivalent Gα subunit mutants cause unrelated diseases.	10
22562654	2012	Gαo potentiates estrogen receptor α activity via the ERK signaling pathway.	8
26485252	2015	Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.	7
24366063	2014	Overexpression of GNAO1 correlates with poor prognosis in patients with gastric cancer and plays a role in gastric cancer cell proliferation and apoptosis.	6
28628939	2017	Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.	6

Citation

Dessen P

GNAO1 (G protein subunit alpha o1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43279/gnao1