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

GNAT2 Gene

protein-coding   GIFtS: 64
GCID: GC01M110145

Guanine Nucleotide Binding Protein (G Protein), Alpha 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)
About This Section

Aliases
Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing
Activity Polypeptide 21 2
     Cone-Type Transducin Alpha Subunit2
Transducin Alpha-2 Chain2 3     Guanine Nucleotide-Binding Protein G(T) Subunit Alpha-22
GNATC2 3     Transducin, Cone-Specific, Alpha Polypeptide2
ACHM42 5     

External Ids:    HGNC: 43941   Entrez Gene: 27802   Ensembl: ENSG000001341837   OMIM: 1393405   UniProtKB: P190873   

Export aliases for GNAT2 gene to outside databases

Previous GC identifers: GC01M110624 GC01M109075 GC01M109247 GC01M109444 GC01M109857 GC01M109947 GC01M108038


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

Entrez Gene summary for GNAT2 Gene:
Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of
rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are
encoded by separate genes. This gene encodes the alpha subunit in cones. (provided by RefSeq, Jul 2008)

GeneCards Summary for GNAT2 Gene: 
GNAT2 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2) is a protein-coding gene. Diseases associated with GNAT2 include achromatopsia 4, and oligocone trichromacy, and among its related super-pathways are Visual signal transduction- Rods and GHRH Signaling. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that
performs the coupling between rhodopsin and cGMP-phosphodiesterase

summary for GNAT2 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 GNAT2 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_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNAT2 gene promoter:
         Egr-3   SRF   Pbx1a   Bach2   SRF (504 AA)   AP-4   C/EBPalpha   AREB6   CP2   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNAT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GNAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNAT2


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

Entrez Gene cytogenetic band: 1p13.1   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13

GNAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNAT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M110145:  view genomic region     (about GC identifiers)

Start:
110,145,889 bp from pter      End:
110,155,705 bp from pter
Size:
9,817 bases      Orientation:
minus 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: GNAT2_HUMAN, P19087 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(t) subunit alpha-2  
Size: 354 amino acids; 40176 Da
Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine
nucleotide binding site

Explore the universe of human proteins at neXtProt for GNAT2: NX_P19087

Explore proteomics data for GNAT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P19087

  • GNAT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNAT2 Protein Expression
    REFSEQ proteins: NP_005263.1  
    ENSEMBL proteins: 
     ENSP00000251337  
    Reactome Protein details: P19087
    Human Recombinant Protein Products for GNAT2: 
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    Novus Biologicals GNAT2 Protein
    Novus Biologicals GNAT2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0001917photoreceptor inner segment IDA2534964
    GO:0005834heterotrimeric G-protein complex NAS1936270
    GO:0005886plasma membrane TAS--
    GO:0031234extrinsic to internal side of plasma membrane IBA--

    GNAT2 for ontologies           About GeneDecksing



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    (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
     IPR011025 GproteinA_insert
     IPR001408 Gprotein_alpha_I
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P19087

    ProtoNet protein and cluster: P19087

    2 Blocks protein domains:
    IPB001019 Alpha G-protein (transducin) signature
    IPB001408 G-protein alpha subunit group I signature


    UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
    Similarity: Belongs to the G-alpha family. G(i/o/t/z) subfamily


    GNAT2 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: GNAT2_HUMAN, P19087
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
    transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that
    performs the coupling between rhodopsin and cGMP-phosphodiesterase

         Genatlas biochemistry entry for GNAT2:
    guanine nucleotide binding protein (G protein),alpha transducin,retinal cone cells

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003924GTPase activity IBA--
    GO:0004871signal transducer activity IBA--
    GO:0005525GTP binding NAS1936270
    GO:0008020G-protein coupled photoreceptor activity NAS2534964
         
    GNAT2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gnat2):
     cardiovascular system  nervous system  vision/eye 

    GNAT2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNAT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GNAT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNAT2 
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    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAT2


    (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 GNAT2 About   (see all 23)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Visual signal transduction- Rods
    Phototransduction0.46
    Visual signal transduction- Cones0.39
    2G-Beta Gamma Signaling
    G-Beta Gamma Signaling0.46
    Relaxin Pathway0.37
    GHRH Signaling0.46
    Hedgehog Signaling in Mammals0.32
    CRHR Pathway0.44
    3Rho Family GTPases
    Rho Family GTPases0.61
    MAPK Signaling0.58
    ERK Signaling0.61
    Molecular Mechanisms of Cancer0.51
    4CREB Pathway
    CREB Pathway0.68
    Activation of PKC through GPCR0.63
    IP3 Pathway0.68
    Intracellular Calcium Signaling0.50
    5Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/35 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GNAT2 (see all 35)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CDK5 Pathway
    ERK5 Signaling

    1 BioSystems Pathway for GNAT2
        Visual signal transduction- Cones

    5/8        Reactome Pathways for GNAT2 (see all 8)
        GPCR downstream signaling
    G-protein activation
    G-protein mediated events
    PLC beta mediated events
    Signal Transduction


    1         Kegg Pathway  (Kegg details for GNAT2):
        Phototransduction


    GNAT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GNAT2

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

    5/56 Interacting proteins for GNAT2 (P190873 ENSP000002513374) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783523I2D: score=1 
    SYPP082473I2D: score=1 
    CNGA3ENSP000002726024STRING: ENSP00000272602
    CNGB3ENSP000003166054STRING: ENSP00000316605
    GNA15ENSP000002629584STRING: ENSP00000262958
    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:0001580detection of chemical stimulus involved in sensory perception of bitter taste IBA--
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway NAS2534964
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA--
    GO:0007204elevation of cytosolic calcium ion concentration IEA--

    GNAT2 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

    GNAT2 for compounds           About GeneDecksing

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

    Compounds for GNAT2 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 GNAT2    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 GNAT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloramphenicol 25.1 1 9723991 (1)

    Search CenterWatch for drugs/clinical trials and news about GNAT2

    (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 GNAT2 gene: 
    NM_005272.3  

    Unigene Cluster for GNAT2:

    Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
    Hs.36973  [show with all ESTs]
    Unigene Representative Sequence: NM_005272
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000351050(uc001dya.3)
    miRNA
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    Additional mRNA sequence: 

    AF493909.1 BC000233.1 BT009844.1 

    3 DOTS entries:

    DT.103502  DT.121383298  DT.70104272 

    19 AceView cDNA sequences:

    AF493909 BQ437824 BX090868 NM_005272 BE255831 BC000233 BM083346 BE784016 
    BT009844 BG472813 BE778769 BG394342 CB565936 AI393043 AI817416 CD620137 
    CD620138 BU568606 CD620139 

    GeneLoc Exon Structure


    (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

    GNAT2 expression in normal human tissues (normalized intensities)      GNAT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGTGCTA
    GNAT2 Expression
    About this image


    GNAT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
             Retina
             retina   
     
     Ovary (Reproductive System)
             oocyte   

     -- (Endocrine System)
             pituitary gland   

    See GNAT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNAT2

    SOURCE GeneReport for Unigene cluster: Hs.36973

    UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
    Tissue specificity: Retinal rod outer segment

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAT2

    (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 eukaryotes.

    Orthologs for GNAT2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnat21 , 5 guanine nucleotide binding protein, alpha transducing 2 less1, 5 89.55(n)1
    95.76(a)1
      3 (46.83 cM)5
    146861  NM_008141.21  NP_032167.11 
     1080927895 
    chicken
    (Gallus gallus)
    Aves GNAT21 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 less 81.07(n)
    90.96(a)
      395425  NM_204690.1  NP_990021.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNAT26
    Uncharacterized protein
    91(a)
    1 ↔ 1
    4(105784442-105804838)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.153162 Transcribed sequence with moderate similarity to protein spP19087 (H.sapiens) GBT2_HUMAN Guanine nucleotide-binding protein G(T), alpha-2 subunit (Transducin alpha-2 chain) less 79.27(n)    BX713359.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gnat22 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 less 77.68(n)   140429  AY050500.1 
    rice
    (Oryza sativa)
    Liliopsida Os.116352 Oryza sativa (japonica cultivar-group) cDNA cloneJ023039G05, full insert sequence less 75.73(n)    AK069964.1 


    ENSEMBL Gene Tree for GNAT2 (if available)
    TreeFam Gene Tree for GNAT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GNAT2 gene
    GNAQ2  GNA112  GNA142  GNAI32  GNA132  GNAT32  GNAT12  GNA122  
    GNAI22  GNA152  GNAZ2  GNAO12  GNAI12  
    18 SIMAP similar genes for GNAT2 using alignment to 2 protein entries:     GNAT2_HUMAN (see all proteins):
    GNAT3    GNAT1    GNAI2    GNAI3    GNAI1    DKFZp686O0962
    GNAZ    GNAO1    GNA11    GNA14    GNAQ    GNAL
    GNA12    GNA13    GNAS    GNA15    GSA    WUGSC

    GNAT2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GNAT2
    PGOHUM00000239846


    (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

    10/244 SNPs in GNAT2 are shown (see all 244)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs598568581,2
    C--110152599(+) CTCTG-/GTATGT 1 -- int10--------
    rs559236241,2
    C--110153801(+) TTTTT-/TGAGAC 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs1885208941,2
    --110218236(+) CTGTGC/TCTGGC 1 -- ds50010--------
    rs4853341,2
    C,F,O,H--110218280(-) ACGAAC/GATAAC 1 -- ds500110Minor allele frequency- G:0.09NA EA NS CSA WA 679
    rs1120148251,2
    C--110218408(+) TGGAACCTGGGGGGTCTT
    CTAACTACTGG
    /-
    CCTGT
    2 -- ds5001 cds11Minor allele frequency- -:0.50CSA 2
    rs1466719051,2
    C--110218408(+) TGGAA-/CCTGGGGGGTC
    TTCTAACTACTGG
    CCTGT
    1 -- ds50010--------
    rs1814235311,2
    --110218477(+) AGAACA/GTATGA 1 -- ds50010--------
    rs1166883171,2
    C,F--110218575(+) AATTAC/GCCAGA 1 -- ut311Minor allele frequency- G:0.02NA 120
    rs617546271,2
    C--110218633(+) GAAGAG/AGCCGC 2 /L /F mis11Minor allele frequency- A:0.00NA 4548
    rs347232891,2
    C,F,H--110218757(+) CGCATA/GTTGAG 2 N syn16Minor allele frequency- G:0.00NA NS EU 6127

    HapMap Linkage Disequilibrium report for GNAT2 (110145889 - 110155705 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GNAT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2299CNV Loss18451855
    nsv510951CNV Complex20534489


    Human Gene Mutation Database (HGMD): GNAT2

    Locus Specific Mutation Databases (LSDB): GNAT2
    SABiosciences Cancer Mutation PCR Assays
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    (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: 139340    OMIM disorders: --

    UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
  • Achromatopsia 4 (ACHM4) [MIM:613856]: An ocular stationary disorder due to the absence of functioning
    cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia
    and nystagmus. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for GNAT2:    About MalaCards
    achromatopsia 4    oligocone trichromacy    achromatopsia    stargardt disease
    congenital nystagmus    fainting    cone-rod dystrophy    diphtheria
    major depressive disorder    pertussis    usher syndrome    retinal degeneration
    blindness    huntington's disease    macular degeneration    retinoblastoma
    retinitis    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for GNAT2:
    Achromatopsia     Congenital nystagmus

    GNAT2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for GNAT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    achromatopsia 95.9 8 12205108 (2), 17065522 (1), 15557429 (1), 19874885 (1) (see all 6)
    cone-rod dystrophy 78.2 1 18593457 (1)
    stargardts disease 70.3 5 7774932 (3), 7705831 (1)
    diphtheria 37.3 3 16054133 (1), 10869099 (1)
    retinoblastoma 27 1 8406495 (1)

    GeneTests: GNAT2
    GeneReviews: GNAT2
    Genetic Association Database (GAD): GNAT2
    Human Genome Epidemiology (HuGE) Navigator: GNAT2 (2 documents)

    Export disorders for GNAT2 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 GNAT2 gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with GNAT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the gene encoding human cone transducin alpha- subunit (GNAT2). (PubMed id 8406495)1, 2, 3, 9 Morris A.T. and Fong S. (1993)
    2. Genetic etiology and clinical consequences of complet e and incomplete achromatopsia. (PubMed id 19592100)1, 4, 9 Thiadens A.A....Klaver C.C. (2009)
    3. Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit. (PubMed id 1936270)1, 2, 9 Kubo M.... Kakinuma M. (1991)
    4. Genome-wide association study of recurrent early-onse t major depressive disorder. (PubMed id 20125088)1, 4 Shi J....Levinson D.F. (2010)
    5. 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. (2004)
    6. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. (PubMed id 12077706)1, 2 Kohl S.... Wissinger B. (2002)
    7. Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina. (PubMed id 2534964)1, 2 Lerea C.L.... Hurley J.B. (1989)
    8. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. (PubMed id 15094710)1, 9 Pina A.L....Koenekoop R.K. (2004)
    9. Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2). (PubMed id 9008644)1, 9 Morris T.A....Fong S.L. (1997)
    10. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). (PubMed id 12205108)1, 9 Aligianis I.A....Maher E.R. (2002)

    (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: 2780 HGNC: 4394 AceView: GNAT2 Ensembl:ENSG00000134183 euGenes: HUgn2780
    ECgene: GNAT2 Kegg: 2780 H-InvDB: GNAT2

    (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 GNAT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNAT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GNAT2 gene:
    Search GeneIP for patents involving GNAT2

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



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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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