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

    Gene ID: 2780, updated on 5-May-2024

    Summary

    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; AllianceGenome:HGNC:4394
    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
    HG1D; 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]
    Expression
    Biased expression in testis (RPKM 1.0), brain (RPKM 0.1) and 10 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GNAT2 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109603091..109619616, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109635806..109652336, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110145713..110162238, 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 MPRA-validated peak357 silencer Neighboring gene microRNA 197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:110161626-110162156 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:110162157-110162685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110163216-110163744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110164805-110165334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110166705-110167518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110171947-110172506 Neighboring gene adenosine monophosphate deaminase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110173069-110173628 Neighboring gene Sharpr-MPRA regulatory region 1493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110186678-110187551 Neighboring gene ribosomal protein L7 pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

    Description
    Genome-wide association study of recurrent early-onset major depressive disorder.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled photoreceptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in L-glutamate import IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in background adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cone retinal bipolar cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of chemical stimulus involved in sensory perception of bitter taste IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of retina cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phototransduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in reactive gliosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to UV IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal cone cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal rod cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of heterotrimeric G-protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in photoreceptor inner segment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor outer segment membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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
    heterotrimeric guanine nucleotide-binding protein 1D
    transducin alpha-2 chain
    transducin, cone-specific, alpha polypeptide

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009099.2 RefSeqGene

      Range
      5000..21525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001377295.2NP_001364224.1  guanine nucleotide-binding protein G(t) subunit alpha-2

      Status: REVIEWED

      Source sequence(s)
      AL355310
      Consensus CDS
      CCDS803.1
      UniProtKB/Swiss-Prot
      P19087
      UniProtKB/TrEMBL
      A0A024R097, Q5T697
      Related
      ENSP00000505083.1, ENST00000679935.1
      Conserved Domains (1) summary
      cd00066
      Location:34348
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    2. NM_001379232.1NP_001366161.1  guanine nucleotide-binding protein G(t) subunit alpha-2

      Status: REVIEWED

      Source sequence(s)
      AL355310
      Consensus CDS
      CCDS803.1
      UniProtKB/Swiss-Prot
      P19087
      UniProtKB/TrEMBL
      A0A024R097, Q5T697
      Conserved Domains (1) summary
      cd00066
      Location:34348
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    3. NM_005272.5NP_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)
      AL355310
      Consensus CDS
      CCDS803.1
      UniProtKB/Swiss-Prot
      P19087
      UniProtKB/TrEMBL
      A0A024R097, Q5T697
      Related
      ENSP00000251337.3, ENST00000351050.8
      Conserved Domains (1) summary
      cd00066
      Location:34348
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109603091..109619616 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109635806..109652336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)