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GNGT1 Gene

protein-coding   GIFtS: 60
GCID: GC07P093220

Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing...

  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)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing
Activity Polypeptide 11 2
Transducin Gamma Chain2 3
GNG12
Guanine Nucleotide-Binding Protein G(T) Subunit Gamma-T12

External Ids:    HGNC: 44111   Entrez Gene: 27922   Ensembl: ENSG000001279287   OMIM: 1899705   UniProtKB: P632113   

Export aliases for GNGT1 gene to outside databases

Previous GC identifers: GC07P092071 GC07P093114 GC07P093147 GC07P093180 GC07P093373 GC07P088143


(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 GNGT1 Gene:
Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by
transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found
specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine
monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of
transducin (Hurley et al., 1984 (PubMed 6438626); Scherer et al., 1996 (PubMed 8661128)).(supplied by OMIM, Mar
2008)

GeneCards Summary for GNGT1 Gene:
GNGT1 (guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1) is a protein-coding gene. Diseases associated with GNGT1 include retinitis pigmentosa, and huntington's disease. GO annotations related to this gene include GTPase activity and signal transducer activity. An important paralog of this gene is GNG11.

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211
Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
of GDP by GTP, and for G protein-effector interaction

summary for GNGT1 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; in addition, some
Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and
Gbetagamma coupled to M1 receptors can activate KIR channels.

Gene Wiki entry for GNGT1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the GNGT1 gene promoter:
         ER-alpha   Nkx3-1   STAT5B   Nkx3-1 v4   FOXD1   Nkx3-1 v1   POU3F2   GATA-1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GNGT1 promoter sequence
   Search Chromatin IP Primers for GNGT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNGT1


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

Entrez Gene cytogenetic band: 7q21.3   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3

GNGT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNGT1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P093220:  view genomic region     (about GC identifiers)

Start:
93,220,885 bp from pter      End:
93,540,577 bp from pter
Size:
319,693 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 92,864,986-92,869,650     

(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, 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., 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: GBG1_HUMAN, P63211 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor  
Size: 74 amino acids; 8496 Da
Subunit: G proteins are composed of 3 units, alpha, beta and gamma
Secondary accessions: A4D1H2 O43835 Q08447 Q16026 Q6LCP6

Explore the universe of human proteins at neXtProt for GNGT1: NX_P63211

Explore proteomics data for GNGT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GNGT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068774.1  
    ENSEMBL proteins: 
     ENSP00000395857   ENSP00000248572   ENSP00000388777   ENSP00000395756   ENSP00000401781  
    Reactome Protein details: P63211

    GNGT1 Human Recombinant Protein Products:

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    GNGT1 Assay Products:

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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)
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    2 InterPro protein domains:
     IPR001770 Gprotein-gamma
     IPR015898 G-protein_gamma-like_dom

    Graphical View of Domain Structure for InterPro Entry P63211

    ProtoNet protein and cluster: P63211

    UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211
    Similarity: Belongs to the G protein gamma family


    GNGT1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBG1_HUMAN, P63211
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
    transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
    of GDP by GTP, and for G protein-effector interaction

         Genatlas biochemistry entry for GNGT1:
    guanine nucleotide binding protein (G protein),gamma 1 subunit,retinal rod phosphoreceptor

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS8661128
    GO:0004871signal transducer activity IEA--
         
    GNGT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GNGT1:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gngt1):
     homeostasis/metabolism  nervous system  vision/eye 

    GNGT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gngt1tm1Ogk for GNGT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNGT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNGT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNGT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNGT1

    miRNA
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    miRTarBase miRNAs that target GNGT1:
    hsa-mir-335-5p (MIRT018996)

    Block miRNA regulation of human, mouse, rat GNGT1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GNGT1
    SwitchGear 3'UTR luciferase reporter plasmidGNGT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GNGT1

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    GenScript: all cDNA clones in your preferred vector: GNGT1 (NM_021955)
    Sino Biological Human cDNA Clone for GNGT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNGT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNGT1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNGT1


    (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 UniProtKB/Swiss-Prot
    GBG1_HUMAN, P63211: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    extracellular2
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ----
    GO:0001917photoreceptor inner segment IEA--
    GO:0005834heterotrimeric G-protein complex IEA--
    GO:0005886plasma membrane TAS--
    GO:0097381photoreceptor disc membrane TAS--

    GNGT1 for ontologies           About GeneDecksing


    (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 GNGT1 About   (see all 61)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    Visual signal transduction- Rods0.51
    Activation of the phototransduction cascade0.00
    Phototransduction0.51
    2ADP signalling through P2Y purinoceptor 12
    G-protein beta-gamma signalling0.90
    G-protein activation0.74
    G beta-gamma signalling through PI3Kgamma0.90
    Thrombin signalling through proteinase activated receptors (PARs)0.69
    Signal amplification0.79
    Activation of Kainate Receptors upon glutamate binding0.68
    ADP signalling through P2Y purinoceptor 10.79
    Inhibition of Insulin Secretion by Adrenaline/Noradrenaline0.64
    3fMLP Pathway
    fMLP Pathway0.43
    Alpha-Adrenergic Signaling0.38
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    4EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    Ephrin-Eph Signaling0.58
    5Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    Aquaporin-mediated transport0.85

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNGT1 (see all 47)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    CDK5 Pathway
    JNK Pathway
    ERK5 Signaling

    Selected GeneGo (Thomson Reuters) Pathways for GNGT1 (see all 34)
        Signal transduction cAMP signaling
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    G-protein signaling G-Protein alpha-i signaling cascades
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
    Signal transduction Activation of PKC via G-Protein coupled receptor

    5 BioSystems Pathways for GNGT1
        Myometrial Relaxation and Contraction Pathways
    Estrogen signaling pathway
    G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    Visual signal transduction- Rods


    Selected Reactome Pathways for GNGT1 (see all 24)
        G alpha (12/13) signalling events
    Inactivation, recovery and regulation of the phototransduction cascade
    G alpha (z) signalling events
    Olfactory Signaling Pathway
    Activation of the phototransduction cascade


    Selected Kegg Pathways  (Kegg details for GNGT1) (see all 13):
        Ras signaling pathway
    Chemokine signaling pathway
    PI3K-Akt signaling pathway
    Circadian entrainment
    Retrograde endocannabinoid signaling


    GNGT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GNGT1: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GNGT1

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

    Selected Interacting proteins for GNGT1 (P632113 ENSP000002485724) via UniProtKB, MINT, STRING, and/or I2D (see all 343)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNB1P628733, ENSP000003678724I2D: score=2 STRING: ENSP00000367872
    GNASQ5JWF23, ENSP000003601414I2D: score=1 STRING: ENSP00000360141
    IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
    PLEKHB1Q9UF113, ENSP000003461274I2D: score=1 STRING: ENSP00000346127
    NAGAP170503, ENSP000003796804I2D: score=1 STRING: ENSP00000379680
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS8661128
    GO:0007165signal transduction NAS8661128
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007268synaptic transmission TAS--
    GO:0007602phototransduction ----

    GNGT1 for ontologies           About GeneDecksing



    (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 GNGT1 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 GNGT1    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 DrugBank Compound for GNGT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FARNESYL-- --target--10592235

    1 Novoseek inferred chemical compound relationship for GNGT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metarhodopsin ii 78.9 1 1935895 (1)



    GNGT1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GNGT1 gene: 
    NM_021955.3  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455502(uc003umx.1) ENST00000248572(uc003unc.1) ENST00000429473
    ENST00000430875 ENST00000428834
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat GNGT1

    Selected AceView cDNA sequences (see all 42):

    AA015841 S62027 AF493869 AA019183 BM719352 BQ637754 BX281635 BM692469 
    BQ185551 H38114 CR456912 AA365936 BX509917 BU753913 AA364434 BQ189000 
    NM_021955 CD622858 BM664051 AA018874 BG435040 BC029367 BQ184407 BX434135 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GNGT1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4
    SP1:                          -         
    SP2:                                    
    SP3:                          -         


    ECgene alternative splicing isoforms for GNGT1

    (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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    GNGT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACGTGAATT
    GNGT1 Expression
    About this image


    GNGT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Ovary (Reproductive System)
    GNGT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNGT1 Protein Expression

    UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211
    Tissue specificity: Retinal rod outer segment

        Pathway & Disease-focused RT2 Profiler PCR Array including GNGT1: 
              Alzheimer's Disease in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat GNGT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNGT1

    (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 chordates.

    Orthologs for GNGT1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gngt11 , 5 guanine nucleotide binding protein (G protein), gamma more1, 5 87.39(n)1
    97.3(a)1
      6 (1.81 cM)5
    146991  NM_010314.21  NP_034444.11 
     39937975 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.175472 Xenopus laevis transcribed sequence with moderate similarity more 78.03(n)    BG812771.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gngt11 guanine nucleotide binding protein (G protein), gamma more 71.3(n)
    68.06(a)
      335656  NM_199967.1  NP_956261.1 


    ENSEMBL Gene Tree for GNGT1 (if available)
    TreeFam Gene Tree for GNGT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNGT1 gene
    GNG112  GNGT22  
    9 SIMAP similar genes for GNGT1 using alignment to 2 protein entries:     GBG1_HUMAN (see all proteins):
    GNG11    GNGT2    GNG12    GNG7    GNG10    GNG2
    GNG3    GNG4    GNG8

    GNGT1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GNGT1
    PGOHUM00000233472


    (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)
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    Selected SNPs for GNGT1 (see all 172)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1802781,2
    C,F,A,H--93533839(-) ATTTGG/ACTCCT 1 -- us2k1 tfbs315Minor allele frequency- A:0.17EA NA WA CSA 588
    rs734123791,2
    C,F--93533870(+) TAAGTG/TTATCA 1 -- us2k13Minor allele frequency- T:0.20WA CSA 122
    rs1926934031,2
    --93533969(+) GGAAGC/TACAAC 1 -- us2k10--------
    rs1409848371,2
    C--93533999(+) AACACA/GTGCAA 1 -- us2k10--------
    rs1841809361,2
    --93534024(+) CTACAC/TGCCAT 1 -- us2k10--------
    rs18588271,2
    C,F,A,H--93534072(-) GATTTT/GTTGAG 1 -- us2k113Minor allele frequency- G:0.48NS EA NA WA 778
    rs1498366831,2
    --93534130(+) ACAGGC/TAGGTC 1 -- us2k10--------
    rs126685921,2
    C,H--93534205(+) TATGAA/GAGGGC 1 -- us2k10--------
    rs1485415551,2
    --93534243(+) AAACCC/TAACAC 1 -- us2k10--------
    rs1428632041,2
    --93534288(+) TCATAA/TCTTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GNGT1 (93220885 - 93470885 bp, first 250kb of GNGT1)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GNGT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv511379CNV Loss21212237

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GNGT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GNGT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 189970    OMIM disorders: --

    10 diseases for GNGT1:    
    About MalaCards
    retinitis pigmentosa    huntington's disease    retinitis    hypoxia
    pertussis    colorectal cancer    alzheimer's disease    asthma
    breast cancer    neuronitis


    GNGT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GNGT1
    Human Genome Epidemiology (HuGE) Navigator: GNGT1 (1 document)

    Export disorders for GNGT1 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)
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    PubMed articles for GNGT1 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with GNGT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). (PubMed id 8661128)1, 2, 3, 9 Scherer S.W.... Pittler S.J. (Genomics 1996)
    2. Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice. (PubMed id 8500562)1, 2, 9 Tao L.... Fong H.K. (Exp. Eye Res. 1993)
    3. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    7. [Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa]. (PubMed id 15901556)1, 4 Zhang Q.J....Guo X.M. (Yi Chuan 2002)
    8. IGF-1 activates a cilium-localized noncanonical GI^I^ signaling pathway that regulates cell-cycle progression. (PubMed id 23954591)1 Yeh C....Sung C.H. (Dev. Cell 2013)
    9. The WD40 repeat protein WDR26 binds GI^I^ and promotes GI^I^-dependent signal transduction and leukocyte migration. (PubMed id 22065575)1 Sun Z....Chen S. (J. Biol. Chem. 2011)
    10. Expanding the substantial interactome of NEMO using protein microarrays. (PubMed id 20098747)1 Fenner B.J....Prehn J.H. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 2792 HGNC: 4411 AceView: GNGT1 Ensembl:ENSG00000127928 euGenes: HUgn2792
    ECgene: GNGT1 Kegg: 2792 H-InvDB: GNGT1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for GNGT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GNGT1 gene:
    Search GeneIP for patents involving GNGT1

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



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