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GNAL Gene

protein-coding   GIFtS: 65
GCID: GC18P012014

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

  See GNAL-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)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Alpha Activating
Activity Polypeptide, Olfactory Type1 2
Adenylate Cyclase-Stimulating G Alpha Protein, Olfactory Type2 3
DYT252 5
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 GC18P011925


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type) is a protein-coding gene. Diseases associated with GNAL include dystonia 25, and blepharospasm. GO annotations related to this gene include GTP binding and GTPase 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010859.15  NC_018929.2  
Regulatory elements:
   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 Chromatin IP Primers for GNAL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC18P012014:  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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • Ubiquitination2 at Lys55, Lys60, Lys203
  • Modification sites at PhosphoSitePlus

  • See GNAL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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   ENSP00000473600   ENSP00000466709  
    Reactome Protein details: P38405

    GNAL Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate 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.

     
    Search eBioscience for Proteins for GNAL 

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GNAL 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with GNAL           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with GNAL           About GenesLikeMe


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

    Find genes that share phenotypes with GNAL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gnaltm1Rax for GNAL

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNAL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNAL

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNAL

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    miRTarBase miRNAs that target GNAL:
    hsa-mir-16-5p (MIRT051131), hsa-mir-99a-5p (MIRT048626), hsa-mir-10a-5p (MIRT047629)

    Block miRNA regulation of human, mouse, rat GNAL using miScript Target Protectors
    Selected qRT-PCR 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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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    plasma membrane3
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with GNAL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GNAL About   (see all 38)  
    See pathways by source

    SuperPathContained pathways About
    1Adenylate cyclase inhibitory pathway
    Adenylate cyclase inhibitory pathway0.53
    Inhibition of adenylate cyclase pathway0.00
    LPA4-mediated signaling events0.53
    Adenylate cyclase activating pathway0.00
    2Olfactory Signaling Pathway
    Olfactory Signaling Pathway0.82
    Olfactory transduction0.82
    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
    5ERK Signaling
    Rho Family GTPases0.61
    MAPK Signaling0.58
    ERK Signaling0.61
    Molecular Mechanisms of Cancer0.51


    Find genes that share SuperPaths with GNAL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    3 Reactome Pathways for GNAL
        Olfactory Signaling Pathway
    Adenylate cyclase inhibitory pathway
    Adenylate cyclase activating pathway


    Selected Kegg Pathways  (Kegg details for GNAL) (see all 6):
        Calcium signaling pathway
    Dopaminergic synapse
    Olfactory transduction
    Parkinson's disease
    Chagas disease (American trypanosomiasis)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNAL
    Interactions:

        Search GeneGlobe Interaction Network for GNAL

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

    Selected Interacting proteins for GNAL (P384053 ENSP000003340514) via UniProtKB, MINT, STRING, and/or I2D (see all 446)
    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): Selected biological process terms (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--

    Find genes that share ontologies with GNAL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with GNAL           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GNAL gene (5 alternative transcripts): 
    NM_001142339.2  NM_001261443.1  NM_001261444.1  NM_182978.3  NM_002071.3  

    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
    10 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 ENST00000602628
    ENST00000586926
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    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
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      QuantiTect SYBR Green Assays in human, mouse, rat GNAL
      QuantiFast Probe-based Assays in human, mouse, rat GNAL

    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 

    Selected AceView cDNA sequences (see all 96):

    BI011962 N37076 F10584 AA728766 AF493893 CR597962 AI452450 CD515731 
    AA479952 AL047642 BP362417 BM908948 CB243178 AA234773 CR593590 BI822507 
    R52708 BX097239 NM_182978 AW156895 BG697884 BC050021 BX647050 BQ127976 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GNAL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGGAGGCA
    GNAL Expression
    About this image

    GNAL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNAL Protein Expression

    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
    Assay Products:
     

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

    Orthologs for GNAL gene from Selected species (see all 17)    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 87.88(n)1
    95.04(a)1
      18 (39.85 cM)5
    146801  NM_177137.41  NP_796111.21 
     670883365 
    chicken
    (Gallus gallus)
    Aves GNAL1 guanine nucleotide binding protein (G protein), alpha more 85.05(n)
    93.93(a)
      474379  NM_001008746.1  NP_001008746.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    52(a)
    1 → many
    2(196935491-196936639)
    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 GPA16
    GTP-binding alpha subunit of the heterotrimeric G ...
    25(a)
    1 → many
    VIII(113499-114917) YHR005C


    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)
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    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

    Find genes that share paralogs with GNAL           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for GNAL (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--------
    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--------
    rs1163339711,2
    C,F--11687553(+) ATACTC/GTGAGA 1 -- us2k11Minor allele frequency- G:0.02WA 118

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GNAL
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 139312   
    OMIM disorders: 615073  
    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

  • 6 diseases for GNAL:    
    About MalaCards
    dystonia 25    blepharospasm    bipolar disorder    torsion dystonia
    dystonia    schizophrenia

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

    Find genes that share disorders with GNAL           About GenesLikeMe

    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

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    PubMed articles for GNAL gene, integrated from 10 sources (see all 59):
    (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. (Nat. Genet. 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. (Mol. Med. 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. (J Affect Disord 2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Psychiatr. Genet. 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. (Endocrinology 1993)
    7. Evolution of the mammalian G protein alpha subunit multigene family. (PubMed id 1302014)1, 3 Wilkie T.M....Simon M.I. (Nat. Genet. 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. (J Psychiatr Res 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. (Mol. Psychiatry 2000)
    10. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2. (PubMed id 16044173)1, 9 Corradi J.P....Furlong S.T. (Mol. Psychiatry 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 2774 HGNC: 4388 AceView: GNAL Ensembl:ENSG00000141404 euGenes: HUgn2774
    ECgene: GNAL Kegg: 2774 H-InvDB: GNAL

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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