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Aliases for GNAO1 Gene

Aliases for GNAO1 Gene

  • G Protein Subunit Alpha O1 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Activating Activity Polypeptide O 2 3
  • Guanine Nucleotide-Binding Protein G(O) Subunit Alpha 3
  • Guanine Nucleotide-Binding Regulatory Protein 2 3
  • GO2-Q Chimeric G-Protein 3
  • G-ALPHA-O 3
  • HLA-DQB1 3
  • EIEE17 3
  • GNAO 3

External Ids for GNAO1 Gene

Previous GeneCards Identifiers for GNAO1 Gene

  • GC16P046608
  • GC16P056277
  • GC16P055961
  • GC16P056001
  • GC16P056000
  • GC16P054783
  • GC16P042096

Summaries for GNAO1 Gene

Entrez Gene Summary for GNAO1 Gene

  • The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for GNAO1 Gene

GNAO1 (G Protein Subunit Alpha O1) is a Protein Coding gene. Diseases associated with GNAO1 include Epileptic Encephalopathy, Early Infantile, 17 and Epileptic Encephalopathy, Early Infantile, 15. Among its related pathways are Development Endothelin-1/EDNRA signaling and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAI1.

UniProtKB/Swiss-Prot for GNAO1 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.

Tocris Summary for GNAO1 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAO1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAO1 Gene

Genomics for GNAO1 Gene

Regulatory Elements for GNAO1 Gene

Enhancers for GNAO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G056280 1.3 FANTOM5 ENCODE dbSUPER 38.5 +90.5 90482 2.2 CTCF ZNF175 BACH1 CEBPG YBX1 RBBP5 RAD21 ZNF766 ZNF366 SMC3 GNAO1 MT3 MT1M BBS2 LOC102723466 ENSG00000279764
GH16G056285 0.9 dbSUPER 39.2 +96.6 96604 4.1 HDAC1 TBL1XR1 ARNT TCF12 ZNF766 GATA2 EGR1 CREM ZBTB2 ZBTB11 GNAO1 ENSG00000260041 LOC102723466 LPCAT2 ENSG00000279764
GH16G056259 1.5 Ensembl ENCODE dbSUPER 22.4 +70.9 70908 4.8 PKNOX1 FOXA2 ARID4B YY1 TCF12 FOS SP5 MIER2 REST PPARG GNAO1 LOC102723466 PIR47916 MIR3935
GH16G056314 0.8 ENCODE dbSUPER 41.4 +104.7 104658 1.9 NFIC NFIB MAX HNF4A RAD21 YY1 GNAO1 LOC102723466 ENSG00000279764
GH16G056228 1 dbSUPER 32.4 +44.2 44178 14.1 FOXA2 PKNOX1 CREB3L1 ARNT ARID4B ZNF48 YY1 TCF12 FOS KLF13 GNAO1 LOC283856 LOC102723466 MIR3935 GC16M056203
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNAO1 on UCSC Golden Path with GeneCards custom track

Promoters for GNAO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000086247 261 1201 RB1 ZSCAN4 ZNF76 KLF17 FEZF1 RAD21 YY1 GLIS2 ZNF366 CREM

Genomic Location for GNAO1 Gene

Chromosome:
16
Start:
56,191,339 bp from pter
End:
56,357,457 bp from pter
Size:
166,119 bases
Orientation:
Plus strand

Genomic View for GNAO1 Gene

Genes around GNAO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAO1 Gene

Proteins for GNAO1 Gene

  • Protein details for GNAO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09471-GNAO_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(o) subunit alpha
    Protein Accession:
    P09471
    Secondary Accessions:
    • P29777
    • Q8TD72
    • Q9UMV4

    Protein attributes for GNAO1 Gene

    Size:
    354 amino acids
    Molecular mass:
    40051 Da
    Quaternary structure:
    • Interacts with RGS14 (By similarity). G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

    Alternative splice isoforms for GNAO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNAO1 Gene

Post-translational modifications for GNAO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GNAO1 Gene

Domains & Families for GNAO1 Gene

Gene Families for GNAO1 Gene

Suggested Antigen Peptide Sequences for GNAO1 Gene

Graphical View of Domain Structure for InterPro Entry

P09471

UniProtKB/Swiss-Prot:

GNAO_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAO1: view

Function for GNAO1 Gene

Molecular function for GNAO1 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha activating,polypeptide O
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.

Gene Ontology (GO) - Molecular Function for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS,IEA --
GO:0004871 signal transducer activity IEA,IBA --
GO:0005525 GTP binding IEA,TAS --
GO:0019001 guanyl nucleotide binding IEA --
GO:0031683 G-protein beta/gamma-subunit complex binding IBA,IEA --
genes like me logo Genes that share ontologies with GNAO1: view
genes like me logo Genes that share phenotypes with GNAO1: view

Human Phenotype Ontology for GNAO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAO1 Gene

MGI Knock Outs for GNAO1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAO1 Gene

Localization for GNAO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAO1 Gene

Cell membrane. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAO1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with GNAO1: view

Pathways & Interactions for GNAO1 Gene

genes like me logo Genes that share pathways with GNAO1: view

SIGNOR curated interactions for GNAO1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006936 muscle contraction TAS 9050846
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA,IBA --
genes like me logo Genes that share ontologies with GNAO1: view

Drugs & Compounds for GNAO1 Gene

(3) Drugs for GNAO1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNAO1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Bromo-cGMP, sodium salt
51116-01-9
CMPD101
865608-11-3
Gallein
2103-64-2
G-Protein antagonist peptide
143675-79-0
Pertussis Toxin
70323-44-3

(5) Tocris Compounds for GNAO1 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG 51116-01-9
CMPD101 Potent and selective GRK2/3 inhibitor 865608-11-3
Gallein Inhibitor of betagamma signaling 2103-64-2
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt 70323-44-3
genes like me logo Genes that share compounds with GNAO1: view

Transcripts for GNAO1 Gene

Unigene Clusters for GNAO1 Gene

Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GNAO1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1: - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - -
SP8:
SP9: - - -

Relevant External Links for GNAO1 Gene

GeneLoc Exon Structure for
GNAO1
ECgene alternative splicing isoforms for
GNAO1

Expression for GNAO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNAO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNAO1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x4.5), Brain - Caudate (basal ganglia) (x4.1), and Brain - Amygdala (x4.0).

Protein differential expression in normal tissues from HIPED for GNAO1 Gene

This gene is overexpressed in Frontal cortex (22.7), Brain (19.5), Retina (8.1), and Fetal Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNAO1 Gene



Protein tissue co-expression partners for GNAO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GNAO1 Gene:

GNAO1

SOURCE GeneReport for Unigene cluster for GNAO1 Gene:

Hs.644524

Evidence on tissue expression from TISSUES for GNAO1 Gene

  • Nervous system(5)
  • Muscle(4.4)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAO1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GNAO1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GNAO1 Gene

Orthologs for GNAO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNAO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNAO1 34 35
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia GNAO1 34 35
  • 95.76 (n)
cow
(Bos Taurus)
Mammalia GNAO1 34 35
  • 95.29 (n)
rat
(Rattus norvegicus)
Mammalia Gnao1 34
  • 94.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNAO1 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnao1 34 16 35
  • 93.79 (n)
oppossum
(Monodelphis domestica)
Mammalia GNAO1 35
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNAO1 34 35
  • 88.51 (n)
lizard
(Anolis carolinensis)
Reptilia GNAO1 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnao1 34
  • 84.46 (n)
Str.4190 34
African clawed frog
(Xenopus laevis)
Amphibia gnao1-A 34
zebrafish
(Danio rerio)
Actinopterygii gnao1a 34 35
  • 82.58 (n)
zgc73315 34
fruit fly
(Drosophila melanogaster)
Insecta G-oalpha47A 36 34 35
  • 71.09 (n)
G-ialpha65A 36
  • 65 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005773 34
  • 68.84 (n)
worm
(Caenorhabditis elegans)
Secernentea goa-1 36 34 35
  • 70.9 (n)
gpa-7 36
  • 56 (a)
gpa-4 36
  • 54 (a)
gpa-3 36
  • 53 (a)
odr-3 36
  • 50 (a)
gpa-1 36
  • 47 (a)
gpa-15 36
  • 45 (a)
gpa-2 36
  • 45 (a)
gpa-11 36
  • 40 (a)
gpa-6 36
  • 40 (a)
gpa-8 36
  • 39 (a)
gpa-9 36
  • 36 (a)
gpa-10 36
  • 35 (a)
gpa-14 36
  • 31 (a)
Species where no ortholog for GNAO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAO1 Gene

ENSEMBL:
Gene Tree for GNAO1 (if available)
TreeFam:
Gene Tree for GNAO1 (if available)

Paralogs for GNAO1 Gene

Paralogs for GNAO1 Gene

genes like me logo Genes that share paralogs with GNAO1: view

Variants for GNAO1 Gene

Sequence variations from dbSNP and Humsavar for GNAO1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs587777054 Pathogenic, Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] 56,351,496(+) GAAGA(A/T)CAAGA reference, missense
rs587777055 Pathogenic, Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] 56,334,785(+) GCAGG(A/G)CATCC reference, missense
rs587777057 Pathogenic, Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] 56,336,744(+) ACGTC(A/G)GAGGC reference, missense
rs797044951 Pathogenic, Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] 56,351,396(+) TGCAC(A/G)AGTCT reference, missense
rs797045599 Likely pathogenic, Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] 56,336,817(+) TGTCG(C/T)GCTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GNAO1 Gene

Variant ID Type Subtype PubMed ID
esv2714509 CNV deletion 23290073
esv3308601 CNV mobile element insertion 20981092
esv3399504 CNV insertion 20981092
nsv476534 CNV novel sequence insertion 20440878
nsv477533 CNV novel sequence insertion 20440878
nsv519346 CNV loss 19592680
nsv519979 CNV loss 19592680
nsv521726 CNV loss 19592680
nsv523649 CNV loss 19592680
nsv525929 CNV loss 19592680
nsv833242 CNV loss 17160897
nsv952681 CNV deletion 24416366

Variation tolerance for GNAO1 Gene

Residual Variation Intolerance Score: 10% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAO1 Gene

Human Gene Mutation Database (HGMD)
GNAO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAO1 Gene

Disorders for GNAO1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GNAO1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 17
  • eiee17
epileptic encephalopathy, early infantile, 15
  • ohtahara syndrome
encephalopathy
  • brain diseases
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards
Search GNAO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAO_HUMAN
  • Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]: A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements. {ECO:0000269 PubMed:23993195, ECO:0000269 PubMed:25966631, ECO:0000269 PubMed:26485252, ECO:0000269 PubMed:27476654}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNAO1

Genetic Association Database (GAD)
GNAO1
Human Genome Epidemiology (HuGE) Navigator
GNAO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNAO1
genes like me logo Genes that share disorders with GNAO1: view

No data available for Genatlas for GNAO1 Gene

Publications for GNAO1 Gene

  1. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. (PMID: 26485252) Law C.Y. … Lam C.W. (Clin. Chim. Acta 2015) 3 4 64
  2. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. (PMID: 25966631) Saitsu H. … Matsumoto N. (Eur. J. Hum. Genet. 2015) 3 4 64
  3. De Novo mutations in GNAO1, encoding a GI+o subunit of heterotrimeric G proteins, cause epileptic encephalopathy. (PMID: 23993195) Nakamura K. … Saitsu H. (Am. J. Hum. Genet. 2013) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) RuaA+o G. … Wu A.H. (Pharmacogenomics 2010) 3 46 64

Products for GNAO1 Gene

Sources for GNAO1 Gene

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