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    GNAT2 G protein subunit alpha transducin 2 [ Homo sapiens (human) ]

    Gene ID: 2780, updated on 7-May-2017
    Official Symbol
    GNAT2provided by HGNC
    Official Full Name
    G protein subunit alpha transducin 2provided by HGNC
    Primary source
    HGNC:HGNC:4394
    See related
    Ensembl:ENSG00000134183 MIM:139340; Vega:OTTHUMG00000011639
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACHM4; GNATC
    Summary
    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]
    Orthologs
    Location:
    1p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (109603091..109619733, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110145889..110155705, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene G protein subunit alpha i3 Neighboring gene RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence Neighboring gene microRNA 197 Neighboring gene adenosine monophosphate deaminase 2 Neighboring gene ribosomal protein L7 pseudogene 8

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Achromatopsia 4
    MedGen: C1841721 OMIM: 613856 GeneReviews: Achromatopsia
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of recurrent early-onset major depressive disorder.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
      Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
    • Ca2+ pathway, organism-specific biosystem (from REACTOME)
      Ca2+ pathway, organism-specific biosystemA number of so called non-canonical WNT ligands have been shown to promote intracellular calcium release upon FZD binding. This beta-catenin-independent WNT pathway acts through heterotrimeric G pro...
    • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
      Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
    • Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystem (from REACTOME)
      Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystemThe chaperonin complex TRiC/CCT is needed for the proper folding of all five G-protein beta subunits (Wells et al. 2006). TRiC/CCT cooperates with the phosducin-like protein PDCL (commonly known as P...
    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • G-protein activation, organism-specific biosystem (from REACTOME)
      G-protein activation, organism-specific biosystemReceptor activated heterotrimeric G proteins consist of the Galpha and the tightly associated Gbeta-gamma subunits. When a ligand binds to a G protein-coupled receptor, it stabilises a conformation ...
    • G-protein mediated events, organism-specific biosystem (from REACTOME)
      G-protein mediated events, organism-specific biosystemWhen dissociated Galpha-GTP and Gbeta-gamma can activate or inhibit different signalling cascades and effector proteins. The precise pathways depends on the identity of the alpha and beta/gamma subty...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Opioid Signalling, organism-specific biosystem (from REACTOME)
      Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
    • PLC beta mediated events, organism-specific biosystem (from REACTOME)
      PLC beta mediated events, organism-specific biosystemThe phospholipase C (PLC) family of enzymes is both diverse and complex. The isoforms beta, gamma and delta (each have subtypes) make up the members of this family. PLC hydrolyzes phosphatidylinosito...
    • Phototransduction, organism-specific biosystem (from KEGG)
      Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
    • Phototransduction, conserved biosystem (from KEGG)
      Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
    • Protein folding, organism-specific biosystem (from REACTOME)
      Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • Visual signal transduction: Cones, organism-specific biosystem (from Pathway Interaction Database)
      Visual signal transduction: Cones, organism-specific biosystem
      Visual signal transduction: Cones
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    G-protein coupled photoreceptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    G-protein coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    GTP binding TAS
    Traceable Author Statement
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTPase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    signal transducer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Wnt signaling pathway, calcium modulating pathway TAS
    Traceable Author Statement
    more info
     
    adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    detection of chemical stimulus involved in sensory perception of bitter taste IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phototransduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    protein folding TAS
    Traceable Author Statement
    more info
     
    response to light intensity IEA
    Inferred from Electronic Annotation
    more info
     
    retinal cone cell development IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heterotrimeric G-protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor outer segment membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    guanine nucleotide-binding protein G(t) subunit alpha-2
    Names
    cone-type transducin alpha subunit
    guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
    transducin alpha-2 chain
    transducin, cone-specific, alpha polypeptide

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009099.1 RefSeqGene

      Range
      5001..14817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005272.3NP_005263.1  guanine nucleotide-binding protein G(t) subunit alpha-2

      See identical proteins and their annotated locations for NP_005263.1

      Status: REVIEWED

      Source sequence(s)
      AF493909, AL355310, BC000233
      Consensus CDS
      CCDS803.1
      UniProtKB/Swiss-Prot
      P19087
      UniProtKB/TrEMBL
      Q5T697
      Related
      ENSP00000251337.3, OTTHUMP00000013354, ENST00000351050.7, OTTHUMT00000032181
      Conserved Domains (2) summary
      cd00066
      Location:34348
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:13352
      G_alpha; G protein alpha subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      109603091..109619733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541264.2XP_011539566.1  guanine nucleotide-binding protein G(t) subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_011539566.1

      UniProtKB/Swiss-Prot
      P19087
      UniProtKB/TrEMBL
      Q5T697
      Conserved Domains (2) summary
      cd00066
      Location:34348
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:13352
      G_alpha; G protein alpha subunit

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      110260808..110270624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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