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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNAL Gene

protein-coding   GIFtS: 63
GCID: GC18P011925

Guanine Nucleotide Binding Protein (G Protein), Alpha Activating...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Guanine Nucleotide Binding Protein (G Protein), Alpha Activating
Activity Polypeptide, Olfactory Type1 2
Adenylate Cyclase-Stimulating G Alpha Protein, Olfactory Type2 3
DYT252
Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity
Polypeptide, Olfactory Type2
Guanine Nucleotide-Binding Protein G(Olf) Subunit Alpha2

External Ids:    HGNC: 43881   Entrez Gene: 27742   Ensembl: ENSG000001414047   OMIM: 1393125   UniProtKB: P384053   

Export aliases for GNAL gene to outside databases

Previous GC identifers: GC18P011973 GC18P011808 GC18P011679 GC18P011689 GC18P011862


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for GNAL Gene: 
GNAL (guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type) is a protein-coding gene. Diseases associated with GNAL include blepharospasm, and torsion dystonia, and among its related super-pathways are Adenylate cyclase activating pathway and Olfactory Signaling Pathway. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAS.

UniProtKB/Swiss-Prot: GNAL_HUMAN, P38405
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

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-receptor binding
results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of
second messenger signalling cascades. There are several types of Galpha proteins; Galphas and Galphai bind
directly to adenylyl cyclase and stimulate or inhibit its activity, leading to an increase or decrease in
cAMP levels respectively.

Gene Wiki entry for GNAL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010859.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNAL gene promoter:
         Oct-B1   C/EBPbeta   POU2F1   oct-B3   oct-B2   CP2   AML1a   POU2F1a   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GNAL promoter sequence
   Search SABiosciences Chromatin IP Primers for GNAL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNAL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.22-p11.21   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.22-p11.21

GNAL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNAL gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P011925:  view genomic region     (about GC identifiers)

Start:
11,688,955 bp from pter      End:
11,885,684 bp from pter
Size:
196,730 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GNAL_HUMAN, P38405 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(olf) subunit alpha  
Size: 381 amino acids; 44308 Da
Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine
nucleotide binding site
Secondary accessions: B7ZA26 Q86XU3
Alternative splicing: 3 isoforms:  P38405-1   P38405-2   P38405-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GNAL: NX_P38405

Explore proteomics data for GNAL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P38405

  • GNAL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNAL Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001135811.1  NP_001248372.1  NP_001248373.1  NP_892023.1  

    ENSEMBL proteins: 
     ENSP00000334051   ENSP00000439023   ENSP00000269162   ENSP00000408489   ENSP00000467345  
     ENSP00000467709   ENSP00000466709   ENSP00000473600  
    Reactome Protein details: P38405
    Human Recombinant Protein Products for GNAL: 
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    Novus Biologicals GNAL Proteins
    Novus Biologicals GNAL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005834heterotrimeric G-protein complex IBA--
    GO:0005886plasma membrane TAS--
    GO:0031234extrinsic to internal side of plasma membrane IBA--

    GNAL for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for GNAL 

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001019 Gprotein_alpha_su
     IPR000367 Gprotein_alpha_S
     IPR011025 GproteinA_insert
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P38405

    ProtoNet protein and cluster: P38405

    2 Blocks protein domains:
    IPB000367 G-protein alpha subunit group S signature
    IPB001019 Alpha G-protein (transducin) signature


    UniProtKB/Swiss-Prot: GNAL_HUMAN, P38405
    Similarity: Belongs to the G-alpha family. G(s) subfamily


    GNAL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GNAL_HUMAN, P38405
    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

         Genatlas biochemistry entry for GNAL:
    guanine nucleotide binding protein (G protein) alpha stimulating activity,olfactory type

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003924GTPase activity IEA--
    GO:0004871signal transducer activity IBA--
    GO:0005525GTP binding IEA--
    GO:0019001guanyl nucleotide binding ----
         
    GNAL for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gnal):
     behavior/neurological  growth/size  mortality/aging  taste/olfaction 

    GNAL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gnaltm1Rax for GNAL

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNAL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GNAL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNAL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNAL 

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate GNAL (see all 28):
    hsa-miR-562 hsa-let-7d hsa-miR-139-5p hsa-miR-575 hsa-let-7a-2* hsa-let-7c hsa-miR-105 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidGNAL 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GNAL About   (see all 37)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Adenylate cyclase activating pathway
    Adenylate cyclase activating pathway0.71
    Inhibition of adenylate cyclase pathway0.71
    Adenylate cyclase inhibitory pathway0.71
    LPA4-mediated signaling events0.67
    2Olfactory transduction
    Olfactory Signaling Pathway0.81
    Olfactory transduction0.81
    3G-Beta Gamma Signaling
    G-Beta Gamma Signaling0.46
    Relaxin Pathway0.37
    GHRH Signaling0.46
    Hedgehog Signaling in Mammals0.32
    CRHR Pathway0.44
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    5Rho Family GTPases
    Rho Family GTPases0.61
    MAPK Signaling0.58
    ERK Signaling0.61
    Molecular Mechanisms of Cancer0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/55 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GNAL (see all 55)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CDK5 Pathway
    ERK5 Signaling

    2 BioSystems Pathways for GNAL
        G Protein Signaling Pathways
    LPA4-mediated signaling events

    5/15        Reactome Pathways for GNAL (see all 15)
        GPCR downstream signaling
    Transmission across Chemical Synapses
    Inhibition of adenylate cyclase pathway
    Signaling by GPCR
    Neuronal System


    5         Kegg Pathways  (Kegg details for GNAL):
        Calcium signaling pathway
    Dopaminergic synapse
    Olfactory transduction
    Chagas disease (American trypanosomiasis)
    Amoebiasis


    GNAL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GNAL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/434 Interacting proteins for GNAL (P384053 ENSP000003340514) via UniProtKB, MINT, STRING, and/or I2D (see all 434)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    USP3Q9Y6I43, ENSP000003696814I2D: score=2 STRING: ENSP00000369681
    SPATA2Q9UM823, ENSP000002894314I2D: score=2 STRING: ENSP00000289431
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    BECN1Q144573I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001975response to amphetamine IEA--
    GO:0007165signal transduction TAS8243272
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007189adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS--
    GO:0007190activation of adenylate cyclase activity IEA--

    GNAL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GNAL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GNAL available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GalleinInhibitor of betagamma signaling[2103-64-2]
    Suramin hexasodium saltNon-selective P2 antagonist[129-46-4]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    8-Bromo-cGMP, sodium salt cGMP analog; activates PKG[51116-01-9]
    Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

    3 HMDB Compounds for GNAL    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for GNAL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanine 58 6 8381506 (2), 16757530 (1), 11359849 (1), 18034856 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about GNAL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GNAL gene (5 alternative transcripts): 
    NM_002071.3  NM_001142339.2  NM_001261443.1  NM_001261444.1  NM_182978.3  

    Unigene Cluster for GNAL:

    Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
    Hs.136295  [show with all ESTs]
    Unigene Representative Sequence: NM_182978
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334049(uc002kqc.2) ENST00000585590 ENST00000535121 ENST00000269162(uc010dkz.2 uc002kqd.2 uc010wzt.1)
    ENST00000423027 ENST00000585642 ENST00000590972 ENST00000590228 ENST00000535980
    ENST00000586926 ENST00000602628
    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate GNAL (see all 28):
    hsa-miR-562 hsa-let-7d hsa-miR-139-5p hsa-miR-575 hsa-let-7a-2* hsa-let-7c hsa-miR-105 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidGNAL 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAL
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    Additional mRNA sequence: 

    AF493893.1 AK090868.1 AK290054.1 AK295088.1 AK307260.1 AK313902.1 AK316141.1 BC050021.1 
    L10665.1 

    14 DOTS entries:

    DT.95289650  DT.97802597  DT.112631  DT.121097680  DT.121097686  DT.91959371  DT.97794936  DT.99989186 
    DT.121097670  DT.121097695  DT.75141667  DT.75196918  DT.97815437  DT.97845878 

    24/96 AceView cDNA sequences (see all 96):

    CR593590 F10584 BM908948 AA234773 AA479952 N37076 BI011962 AI452450 
    AF493893 CB243178 BP362417 AA728766 CR597962 AL047642 CD515731 BX647051 
    NM_182978 AU123352 BF591666 NM_002071 BG697884 BU163496 CB242986 AW263536 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GNAL (see all 6)    About this scheme

    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:                                                                                                                                    


    ECgene alternative splicing isoforms for GNAL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GNAL expression in normal human tissues (normalized intensities)      GNAL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGGAGGCA
    GNAL Expression
    About this image


    GNAL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Caudate nucleus   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See GNAL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNAL

    SOURCE GeneReport for Unigene cluster: Hs.136295

    UniProtKB/Swiss-Prot: GNAL_HUMAN, P38405
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for GNAL gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnal1 , 5 guanine nucleotide binding protein, alpha stimulating, more1, 5 87.42(n)1
    95.04(a)1
      18 (39.85 cM)5
    146801  NM_010307.21  NP_034437.11 
     670883365 
    chicken
    (Gallus gallus)
    Aves GNAL1 guanine nucleotide binding protein (G protein), alpha more 82.28(n)
    89.53(a)
      474379  NM_001008746.1  NP_001008746.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia AJ296281.12   -- 81.42(n)    AJ296281.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb10c032 wufb10c03 78.85(n)   336426  BC045934.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G-salpha60A3 G-protein coupled receptor protein
    signaling pathway more
    69(a)
    (best of 2)
      60A13   --
    worm
    (Caenorhabditis elegans)
    Secernentea gsa-13 guanine nucleotide-binding protein 66(a)
    (best of 2)
      I(1068998-1074345)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPA26
    Nucleotide binding alpha subunit of the heterotrim...
    26(a)
    1 → many
    V(195168-196517)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GNAL gene
    GNAS2  
    17 SIMAP similar genes for GNAL using alignment to 5 protein entries:     GNAL_HUMAN (see all proteins):
    GSA    GNAS    GNAQ    GNAO1    GNAT2    GNAT3
    GNA11    GNAI2    GNA14    GNAI3    GNAT1    GNAI1
    GNAZ    GNA15    GNA13    GNA12    WUGSC

    GNAL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4553 SNPs in GNAL are shown (see all 4553)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693314
    Dystonia 25 (DYT25)4--see VAR_0693312 V M mis40--------
    VAR_0693324
    Dystonia 25 (DYT25)4--see VAR_0693322 E K mis40--------
    VAR_0693294
    ----see VAR_0693292 V F mis40--------
    rs1835807801,2
    --11687141(+) CTAGAC/TAACAT 1 -- us2k10--------
    rs1876731971,2
    C--11687158(+) AACTCA/GTCTTT 1 -- us2k10--------
    rs1450643831,2
    C--11687194(+) AGCCA-/GGCCTG 1 -- us2k10--------
    rs2009599091,2
    C--11687336(+) GTCTT-/AAAAAA 1 -- us2k10--------
    rs775401121,2
    F--11687424(+) TAAAGT/CTTAGC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1924939941,2
    --11687496(+) CCTTTC/GCTGCC 1 -- us2k10--------
    rs1424183261,2
    C--11687517(+) CTCTTC/TCCCAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GNAL (11688955 - 11885684 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for GNAL (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2115144CNV Deletion18987734
    esv2676694CNV Deletion23128226
    esv2716803CNV Deletion23290073
    esv2668690CNV Deletion23128226
    esv2716801CNV Deletion23290073
    dgv491e201CNV Deletion23290073
    esv2716804CNV Deletion23290073
    esv2716805CNV Deletion23290073
    esv4523CNV Deletion18987735
    esv2672629CNV Deletion23128226


    Human Gene Mutation Database (HGMD): GNAL

    Locus Specific Mutation Databases (LSDB): GNAL
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for GNAL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 139312    OMIM disorders: --

    UniProtKB/Swiss-Prot: GNAL_HUMAN, P38405
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for GNAL:    About MalaCards
    blepharospasm    torsion dystonia    pseudohypoparathyroidism    leydig cell tumor
    fainting    bipolar disorder    trypanosomiasis    attention deficit hyperactivity disorder
    major depressive disorder    chagas disease    insulinoma    mood disorder
    pertussis    schizophrenia    huntington's disease    retinoblastoma
    retinitis    pancreatitis    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for GNAL:
    Blepharospasm

    GNAL for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for GNAL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoparathyroidism 70.1 1 8862504 (1)
    bipolar disorder 39.4 3 11032382 (2), 8147460 (1)
    mood disorders 27 2 11901355 (1)
    major depression 20.6 1 8147460 (1)
    schizophrenia 19.7 3 11032382 (2), 14690303 (1)

    Genetic Association Database (GAD): GNAL
    Human Genome Epidemiology (HuGE) Navigator: GNAL (4 documents)

    Export disorders for GNAL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GNAL gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with GNAL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in GNAL cause primary torsion dystonia. (PubMed id 23222958)1, 2 Fuchs T....Ozelius L.J. (2013)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Analysis of polymorphisms in the alpha-subunit of the olfactory G-protein Golf in lithium-treated bipolar patients. (PubMed id 12782961)1, 4 Zill P....Christodoulou G.N. (2003)
    6. Human G(olf) alpha: complementary deoxyribonucleic acid structure and expression in pancreatic islets and other tissues outside the olfactory neuroepithelium and central nervous system. (PubMed id 8243272)1, 2 Zigman J.M.... Steiner D.F. (1993)
    7. Evolution of the mammalian G protein alpha subunit multigene family. (PubMed id 1302014)1, 3 Wilkie T.M....Simon M.I. (1992)
    8. Investigation of the G protein subunit Galphaolf gene (GNAL) in attention deficit/hyperactivity disorder. (PubMed id 17166517)1, 9 Laurin N....Barr C.L. (2008)
    9. Sequence and genomic organization of the human G-protein Golfalpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia. (PubMed id 11032382)1, 9 Vuoristo J.T....Ala-Kokko L. (2000)
    10. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2. (PubMed id 16044173)1, 9 Corradi J.P....Furlong S.T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2774 HGNC: 4388 AceView: GNAL Ensembl:ENSG00000141404 euGenes: HUgn2774
    ECgene: GNAL Kegg: 2774 H-InvDB: GNAL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GNAL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GNAL gene:
    Search GeneIP for patents involving GNAL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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