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GNAT2 Gene

protein-coding   GIFtS: 65
GCID: GC01M110145

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

  See GNAT2-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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include GTP binding and GTPase 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 Chromatin IP Primers for GNAT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • Ubiquitination2 at Lys46
  • Modification sites at PhosphoSitePlus

  • See GNAT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005263.1  
    ENSEMBL proteins: 
     ENSP00000251337  
    Reactome Protein details: P19087

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    (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
     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


    Find genes that share domains with GNAT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with GNAT2           About GenesLikeMe


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

    Find genes that share phenotypes with GNAT2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GNAT2

    miRNA
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    miRTarBase miRNAs that target GNAT2:
    hsa-mir-9-5p (MIRT021422), hsa-mir-1 (MIRT023994)

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    (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
    plasma membrane5
    cytosol3
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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 component of cytoplasmic side of plasma membrane IBA--

    Find genes that share ontologies with GNAT2           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 GNAT2 About   (see all 24)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    Phototransduction0.51
    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
    3ERK Signaling
    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 Transduction0.58
    GPCR downstream signaling0.90


    Find genes that share SuperPaths with GNAT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    4 Reactome Pathways for GNAT2
        G-protein activation
    PLC beta mediated events
    Ca2+ pathway
    G alpha (i) signalling events


    1 Kegg Pathway  (Kegg details for GNAT2):
        Phototransduction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNAT2
    Interactions:

        Search GeneGlobe Interaction Network for GNAT2

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

    Selected Interacting proteins for GNAT2 (P190873 ENSP000002513374) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783523I2D: score=1 
    SYPP082473I2D: score=1 
    CNGA3ENSP000002726024STRING: ENSP00000272602
    GNA15ENSP000002629584STRING: ENSP00000262958
    GNAI2ENSP000003129994STRING: ENSP00000312999
    About this table

    Gene Ontology (GO): Selected biological process terms (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:0007204positive regulation of cytosolic calcium ion concentration IEA--

    Find genes that share ontologies with GNAT2           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 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)



    Find genes that share compounds with GNAT2           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 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)
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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 NM_005272 BC000233 BX090868 BQ437824 BE255831 BT009844 BG472813 
    CB565936 BE784016 BM083346 BG394342 BE778769 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™, 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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    GNAT2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
             Retina
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
    GNAT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNAT2 Protein Expression

    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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    (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 eukaryotes.

    Orthologs for GNAT2 gene from Selected species (see all 13)    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_008141.31  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
    guanine nucleotide binding protein (G protein), al...
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta G-ialpha65A3 G-protein coupled receptor protein
    signaling pathway heterotrimeric
    G-protein GTPase less
    64(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea gpa-43 guanine nucleotide-binding protein 50(a)
    (best of 12)
      IV(401635-403790)   --
    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)
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    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

    Find genes that share paralogs with GNAT2           About GenesLikeMe


    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), 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 GNAT2 (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

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    (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.)
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    OMIM gene information: 139340   
    OMIM disorders: 613856  
    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

  • 7 diseases for GNAT2:    
    About MalaCards
    achromatopsia 4    oligocone trichromacy    cone dystrophy 3    achromatopsia
    achromatopsia 2    congenital nystagmus    stargardt disease

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

    Find genes that share disorders with GNAT2           About GenesLikeMe

    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)
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    PubMed articles for GNAT2 gene, integrated from 10 sources (see all 65):
    (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. (Genomics 1993)
    2. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PubMed id 19592100)1, 4, 9 Thiadens A.A....Klaver C.C. (Ophthalmology 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. (FEBS Lett. 1991)
    4. Genome-wide association study of recurrent early-onset major depressive disorder. (PubMed id 20125088)1, 4 Shi J....Levinson D.F. (Mol. Psychiatry 2011)
    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. (Genome Res. 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. (Am. J. Hum. Genet. 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. (Neuron 1989)
    8. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. (PubMed id 15094710)1, 9 PiA+a A.L....Koenekoop R.K. (Mol. Vis. 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. (amp 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. (J. Med. Genet. 2002)

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

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GNAT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GNAT2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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