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Aliases for GNAL Gene

Aliases for GNAL Gene

  • G Protein Subunit Alpha L 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Activating Activity Polypeptide, Olfactory Type 2 3
  • Adenylate Cyclase-Stimulating G Alpha Protein, Olfactory Type 3 4
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity Polypeptide, Olfactory Type 3
  • Guanine Nucleotide-Binding Protein G(Olf) Subunit Alpha 3
  • DYT25 3

External Ids for GNAL Gene

Previous GeneCards Identifiers for GNAL Gene

  • GC18P011973
  • GC18P011808
  • GC18P011679
  • GC18P011689
  • GC18P011862
  • GC18P011925
  • GC18P012014
  • GC18P011755
  • GC18P012079
  • GC18P012162
  • GC18P012232
  • GC18P012310

Summaries for GNAL Gene

Entrez Gene Summary for GNAL Gene

  • This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for GNAL Gene

GNAL (G Protein Subunit Alpha L) is a Protein Coding gene. Diseases associated with GNAL include Dystonia 25 and Dystonia. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and CCR5 Pathway in Macrophages. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAS.

UniProtKB/Swiss-Prot for GNAL Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.

Tocris Summary for GNAL 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 GNAL Gene

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

Genomics for GNAL Gene

Regulatory Elements for GNAL Gene

Enhancers for GNAL 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
GH18G011688 1.1 ENCODE 35.5 +0.5 521 1.8 ARNT SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF416 ZNF143 ZNF548 SP3 GNAL PRELID3A ENSG00000267249 GC18P012495
GH18G011854 2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +169.2 169242 6.9 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 SLC30A9 FOS CHMP1B ENSG00000267249 GNAL HMGB3P28 ENSG00000272703 PIR45381
GH18G011849 1.8 FANTOM5 ENCODE dbSUPER 6.6 +162.8 162768 5.1 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 GNAL CHMP1B MPPE1 CHMP1B-AS1
GH18G011806 1.1 Ensembl ENCODE 7.6 +119.4 119382 3.1 HDGF ATF1 PKNOX1 ARNT NFRKB EGR1 FOS EGR2 SMARCA5 ZNF280D CHMP1B MPPE1 GNAL ENSG00000267455 GC18P012492
GH18G011750 0.9 Ensembl ENCODE 7.9 +62.8 62795 2.3 PHF8 MXI1 SUZ12 MAX NR3C1 RBBP5 HDAC2 POLR2A CTBP2 EZH2 CHMP1B MPPE1 IMPA2 GNAL ASNSP6 GC18P012492
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNAL on UCSC Golden Path with GeneCards custom track

Promoters for GNAL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100877 744 1401 ARNT SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF416 ZNF143 ZNF548 SP3

Genomic Location for GNAL Gene

Chromosome:
18
Start:
11,688,956 bp from pter
End:
11,885,685 bp from pter
Size:
196,730 bases
Orientation:
Plus strand

Genomic View for GNAL Gene

Genes around GNAL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GNAL Gene

Proteins for GNAL Gene

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

    Protein Symbol:
    P38405-GNAL_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(olf) subunit alpha
    Protein Accession:
    P38405
    Secondary Accessions:
    • B7ZA26
    • Q86XU3

    Protein attributes for GNAL Gene

    Size:
    381 amino acids
    Molecular mass:
    44308 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

    Alternative splice isoforms for GNAL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNAL Gene

Post-translational modifications for GNAL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GNAL Gene

Domains & Families for GNAL Gene

Gene Families for GNAL Gene

Graphical View of Domain Structure for InterPro Entry

P38405

UniProtKB/Swiss-Prot:

GNAL_HUMAN :
  • Belongs to the G-alpha family. G(s) subfamily.
Family:
  • Belongs to the G-alpha family. G(s) subfamily.
genes like me logo Genes that share domains with GNAL: view

Function for GNAL Gene

Molecular function for GNAL Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein) alpha stimulating activity,olfactory type
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.

Gene Ontology (GO) - Molecular Function for GNAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA --
GO:0003924 GTPase activity TAS,IBA --
GO:0004871 signal transducer activity IBA --
GO:0005525 GTP binding IEA --
GO:0019001 guanyl nucleotide binding IEA --
genes like me logo Genes that share ontologies with GNAL: view
genes like me logo Genes that share phenotypes with GNAL: view

Human Phenotype Ontology for GNAL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAL Gene

MGI Knock Outs for GNAL:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for GNAL Gene

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 GNAL gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 4
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GNAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with GNAL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNAL Gene

Pathways & Interactions for GNAL Gene

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

Gene Ontology (GO) - Biological Process for GNAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8243272
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS --
GO:0007190 activation of adenylate cyclase activity TAS --
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway IBA --
genes like me logo Genes that share ontologies with GNAL: view

No data available for SIGNOR curated interactions for GNAL Gene

Drugs & Compounds for GNAL Gene

(4) Drugs for GNAL Gene - From: HMDB and Novoseek

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 GNAL 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 GNAL 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 GNAL: view

Transcripts for GNAL Gene

Unigene Clusters for GNAL Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b
SP1: - - - - - -
SP2: - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for GNAL Gene

GeneLoc Exon Structure for
GNAL
ECgene alternative splicing isoforms for
GNAL

Expression for GNAL Gene

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

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x9.2) and Brain - Caudate (basal ganglia) (x4.6).

Protein differential expression in normal tissues from HIPED for GNAL Gene

This gene is overexpressed in Breast (18.5), Brain (14.2), Cervix (12.4), Lung (8.0), and Heart (6.7).

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



Protein tissue co-expression partners for GNAL Gene

NURSA nuclear receptor signaling pathways regulating expression of GNAL Gene:

GNAL

SOURCE GeneReport for Unigene cluster for GNAL Gene:

Hs.136295

mRNA Expression by UniProt/SwissProt for GNAL Gene:

P38405-GNAL_HUMAN
Tissue specificity: Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen. Trace amounts where seen in kidney, adrenal gland and liver. Found to be expressed in all the insulinomas examined.

Evidence on tissue expression from TISSUES for GNAL Gene

  • Nervous system(4.9)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • epiglottis
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • trachea
Limb:
  • lower limb
  • upper limb
genes like me logo Genes that share expression patterns with GNAL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GNAL Gene

Orthologs for GNAL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNAL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNAL 34 35
  • 99.83 (n)
oppossum
(Monodelphis domestica)
Mammalia GNAL 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAL 34 35
  • 90.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNAL 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNAL 34 35
  • 88.6 (n)
rat
(Rattus norvegicus)
Mammalia Gnal 34
  • 88.06 (n)
mouse
(Mus musculus)
Mammalia Gnal 34 16 35
  • 87.88 (n)
chicken
(Gallus gallus)
Aves GNAL 34 35
  • 85.05 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gnal 34
  • 80.56 (n)
zebrafish
(Danio rerio)
Actinopterygii gnal2 35
  • 76 (a)
OneToOne
gnal 34
  • 75.99 (n)
wufb10c03 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12792 34
fruit fly
(Drosophila melanogaster)
Insecta G-salpha60A 36 35
  • 69 (a)
Galpha73B 36
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea gsa-1 36 35
  • 66 (a)
gpa-5 36
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA1 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for GNAL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 GNAL Gene

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

Paralogs for GNAL Gene

Paralogs for GNAL Gene

(17) SIMAP similar genes for GNAL Gene using alignment to 5 proteins:

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

Variants for GNAL Gene

Sequence variations from dbSNP and Humsavar for GNAL Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs398122923 Pathogenic, Dystonia 25 (DYT25) [MIM:615073] 11,824,933(+) ACCAT(A/G)TGAAA reference, missense
rs398122925 Pathogenic, Dystonia 25 (DYT25) [MIM:615073] 11,824,987(+) CCAAC(A/G)AATAC reference, missense
rs398122924 Pathogenic 11,872,345(+) GAAAT(A/C)AAAAA reference, stop-gained
rs398122926 Pathogenic 11,753,835(+) TGTTT(-/T)CAGCA reference, frameshift-variant
rs398122927 Pathogenic 11,864,577(+) AGACA(-/A)CGATT reference, frameshift-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv1552n106 CNV deletion 24896259
dgv450e201 CNV deletion 23290073
esv1495837 CNV insertion 17803354
esv2115144 CNV deletion 18987734
esv2432184 CNV insertion 19546169
esv2668690 CNV deletion 23128226
esv2672629 CNV deletion 23128226
esv2676694 CNV deletion 23128226
esv2716801 CNV deletion 23290073
esv2716803 CNV deletion 23290073
esv2716804 CNV deletion 23290073
esv2716805 CNV deletion 23290073
esv27176 CNV loss 19812545
esv3394798 CNV duplication 20981092
esv3403150 CNV duplication 20981092
esv3582974 CNV loss 25503493
esv3641810 CNV loss 21293372
esv3641812 CNV loss 21293372
esv3641813 CNV loss 21293372
esv3641815 CNV gain 21293372
esv3641816 CNV loss 21293372
esv3641817 CNV loss 21293372
esv3641818 CNV loss 21293372
esv4523 CNV loss 18987735
esv6550 CNV gain 19470904
nsv1057995 CNV gain 25217958
nsv1065382 CNV gain 25217958
nsv1071429 CNV deletion 25765185
nsv1078419 CNV duplication 25765185
nsv1111154 CNV tandem duplication 24896259
nsv1113905 CNV deletion 24896259
nsv1116253 CNV deletion 24896259
nsv1129331 OTHER inversion 24896259
nsv1151090 CNV deletion 26484159
nsv1153637 OTHER inversion 26484159
nsv131836 CNV deletion 16902084
nsv516128 CNV loss 19592680
nsv518207 CNV loss 19592680
nsv525904 CNV loss 19592680
nsv828180 CNV loss 20364138
nsv833590 CNV gain 17160897
nsv955445 CNV deletion 24416366

Variation tolerance for GNAL Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAL Gene

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

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

Disorders for GNAL Gene

MalaCards: The human disease database

(12) MalaCards diseases for GNAL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia 25
  • autosomal dominant focal dystonia, dyt25
dystonia
  • dystonic disease
cervical dystonia
  • spasmodic torticollis
spasmodic dystonia
  • laryngeal dystonia
pseudohypoparathyroidism
- elite association - COSMIC cancer census association via MalaCards
Search GNAL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAL_HUMAN
  • Dystonia 25 (DYT25) [MIM:615073]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. {ECO:0000269 PubMed:23222958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNAL

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

No data available for Genatlas for GNAL Gene

Publications for GNAL Gene

  1. Mutations in GNAL cause primary torsion dystonia. (PMID: 23222958) Fuchs T. … Ozelius L.J. (Nat. Genet. 2013) 3 4 64
  2. 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
  3. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PMID: 19328558) Yosifova A. … Nakamura Y. (J Affect Disord 2009) 3 46 64
  4. Investigation of the G protein subunit Galphaolf gene (GNAL) in attention deficit/hyperactivity disorder. (PMID: 17166517) Laurin N. … Barr C.L. (J Psychiatr Res 2008) 3 22 64
  5. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2. (PMID: 16044173) Corradi J.P. … Furlong S.T. (Mol. Psychiatry 2005) 3 22 64

Products for GNAL Gene

Sources for GNAL Gene

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