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] See more...

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 4
  • G-ALPHA-O 2 3
  • Guanine Nucleotide-Binding Regulatory Protein 2 3
  • GO2-Q Chimeric G-Protein 3
  • HLA-DQB1 3
  • EIEE17 3
  • NEDIM 3
  • GNAO1 5
  • 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 Neurodevelopmental Disorder With Involuntary Movements. Among its related pathways are Neuroscience and Translation Translation regulation by Alpha-1 adrenergic receptors. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAI1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for GNAO1 Gene

Genomics for GNAO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GNAO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J056190 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 613.6 +1.0 1012 5.4 RNF2 PRDM10 REST IKZF1 ZNF692 PRDM1 ZIC2 ZSCAN4 PKNOX1 POLR2A GNAO1 ENSG00000246379 LOC283856 NONHSAG019518.2 RSPRY1 DKFZP434H168 ENSG00000261439 AMFR
GH16J056280 Enhancer 1 FANTOM5 ENCODE dbSUPER 38.5 +90.3 90332 2.2 CTCF IKZF1 KDM1A PRDM1 REST YBX1 YY1 RAD21 SMC3 ZNF366 GNAO1 MT3 MT1M BBS2 piR-53917 ENSG00000287866 AMFR
GH16J056284 Enhancer 0.9 dbSUPER 39.2 +96.3 96319 6 LEF1 IKZF1 JUND MTA2 PHF21A ZNF776 MTA1 ZNF24 DPF2 HDAC1 GNAO1 RSPRY1 ENSG00000260041 ENSG00000260198 LPCAT2 ENSG00000287866 piR-53917 AMFR
GH16J056295 Enhancer 0.7 ENCODE CraniofacialAtlas dbSUPER 41.4 +104.5 104508 1.9 NFIC HNF4A GNAO1 ENSG00000260198 ENSG00000287866 piR-53917 AMFR
GH16J056200 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.5 +8.7 8712 6.8 CTCF ATF7 KDM1A JUND PKNOX1 REST RAD21 IKZF2 CEBPB DPF2 GNAO1 ENSG00000246379 DKFZP434H168 HSALNG0111669 AMFR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNAO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNAO1

Top Transcription factor binding sites by QIAGEN in the GNAO1 gene promoter:
  • Brachyury
  • E47
  • Hand1
  • HNF-3beta
  • HOXA5
  • NF-kappaB1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for GNAO1 Gene

Genomic Locations for GNAO1 Gene
chr16:56,191,489-56,357,444
(GRCh38/hg38)
Size:
165,956 bases
Orientation:
Plus strand
chr16:56,225,251-56,391,356
(GRCh37/hg19)
Size:
166,106 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.

    Three dimensional structures from OCA and Proteopedia for GNAO1 Gene

    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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GNAO1 Gene

InterPro:
Blocks:
  • Alpha G-protein (transducin) signature
  • G-protein alpha subunit group I signature
ProtoNet:

Suggested Antigen Peptide Sequences for GNAO1 Gene

GenScript: Design optimal peptide antigens:
  • Guanine nucleotide-binding protein G(o) subunit alpha (GNAO_HUMAN)
  • GNAO1 protein (Q8N6I9_HUMAN)

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

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.
GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha activating,polypeptide O

Phenotypes From GWAS Catalog for GNAO1 Gene

Gene Ontology (GO) - Molecular Function for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001664 G protein-coupled receptor binding IBA 21873635
GO:0003924 GTPase activity IEA,IBA 21873635
GO:0005525 GTP binding IEA --
GO:0019001 guanyl nucleotide binding 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAO1

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 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005834 heterotrimeric G-protein complex IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with GNAO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNAO1 Gene

Pathways & Interactions for GNAO1 Gene

PathCards logo

SuperPathways for GNAO1 Gene

SuperPathway Contained pathways
1 S1P3 pathway
2 G-Beta Gamma Signaling
.46
.46
.44
.37
.32
3 DAG and IP3 signaling
.33
4 Development Angiotensin activation of ERK
.73
.73
.65
.54
.45
5 Circadian entrainment
genes like me logo Genes that share pathways with GNAO1: view

Pathways by source for GNAO1 Gene

27 GeneGo (Thomson Reuters) pathways for GNAO1 Gene
  • Cell adhesion Ephrins signaling
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
  • Development A1 receptor signaling
40 Qiagen pathways for GNAO1 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
2 Cell Signaling Technology pathways for GNAO1 Gene

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 21873635
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
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAO1 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAO1: view

Transcripts for GNAO1 Gene

mRNA/cDNA for GNAO1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAO1

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

Expression for GNAO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for GNAO1 Gene



Protein tissue co-expression partners for GNAO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNAO1

SOURCE GeneReport for Unigene cluster for GNAO1 Gene:

Hs.644524

Evidence on tissue expression from TISSUES for GNAO1 Gene

  • Nervous system(5)
  • Muscle(4.6)
  • Eye(2.7)
  • Heart(2.6)
  • Pancreas(2.5)
  • Kidney(2.4)
  • Lung(2.3)
  • Blood(2.3)
  • Adrenal gland(2.3)
  • Intestine(2.1)
  • Skin(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
Regions:
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

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 30 31
  • 99.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GNAO1 30 31
  • 95.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GNAO1 30 31
  • 95.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gnao1 30
  • 94.16 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GNAO1 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gnao1 30 17 31
  • 93.79 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GNAO1 31
  • 93 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GNAO1 30 31
  • 88.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GNAO1 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gnao1 30
  • 84.46 (n)
Str.4190 30
African clawed frog
(Xenopus laevis)
Amphibia gnao1-A 30
Zebrafish
(Danio rerio)
Actinopterygii gnao1a 30 31
  • 82.58 (n)
OneToMany
zgc73315 30
Fruit Fly
(Drosophila melanogaster)
Insecta G-oalpha47A 30 31 32
  • 71.09 (n)
OneToMany
G-ialpha65A 32
  • 65 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005773 30
  • 68.84 (n)
Worm
(Caenorhabditis elegans)
Secernentea goa-1 30 31 32
  • 70.9 (n)
OneToMany
gpa-7 32
  • 56 (a)
gpa-4 32
  • 54 (a)
gpa-3 32
  • 53 (a)
odr-3 32
  • 50 (a)
gpa-1 32
  • 47 (a)
gpa-15 32
  • 45 (a)
gpa-2 32
  • 45 (a)
gpa-6 32
  • 40 (a)
gpa-11 32
  • 40 (a)
gpa-8 32
  • 39 (a)
gpa-9 32
  • 36 (a)
gpa-10 32
  • 35 (a)
gpa-14 32
  • 31 (a)
Species where no ortholog for GNAO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GNAO1: view image

Paralogs for GNAO1 Gene

(19) SIMAP similar genes for GNAO1 Gene using alignment to 6 proteins:

  • GNAO_HUMAN
  • H3BN82_HUMAN
  • H3BNR5_HUMAN
  • H3BQG8_HUMAN
  • H3BTM2_HUMAN
  • Q8N6I9_HUMAN
genes like me logo Genes that share paralogs with GNAO1: view

Variants for GNAO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNAO1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
639765 Uncertain Significance: Early infantile epileptic encephalopathy 56,351,469(+) A/C MISSENSE_VARIANT
641655 Likely Pathogenic: Early infantile epileptic encephalopathy 56,192,595(+) G/A MISSENSE_VARIANT
643497 Uncertain Significance: Early infantile epileptic encephalopathy 56,328,724(+) G/A MISSENSE_VARIANT
657487 Uncertain Significance: Early infantile epileptic encephalopathy 56,328,716(+) G/A MISSENSE_VARIANT
660930 Uncertain Significance: Early infantile epileptic encephalopathy 56,351,406(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GNAO1 Gene

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)

Additional Variant Information for GNAO1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GNAO1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for GNAO1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]: A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum. {ECO:0000269 PubMed:25966631, ECO:0000269 PubMed:26060304, ECO:0000269 PubMed:27068059, ECO:0000269 PubMed:27625011, ECO:0000269 PubMed:28357411}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GNAO1

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

No data available for Genatlas for GNAO1 Gene

Publications for GNAO1 Gene

  1. Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. (PMID: 26060304) Kulkarni N … Grebe TA (Journal of child neurology 2016) 3 4
  2. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. (PMID: 25966631) Saitsu H … Matsumoto N (European journal of human genetics : EJHG 2016) 3 4
  3. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. (PMID: 26485252) Law CY … Lam CW (Clinica chimica acta; international journal of clinical chemistry 2015) 3 4
  4. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. (PMID: 23993195) Nakamura K … Saitsu H (American journal of human genetics 2013) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for GNAO1 Gene

Sources for GNAO1 Gene