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

Gene ID: 2780, updated on 22-Aug-2020

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
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]
Expression
Biased expression in testis (RPKM 1.0), brain (RPKM 0.1) and 10 other tissues See more
Orthologs

Genomic context

See GNAT2 in Genome Data Viewer
Location:
1p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (109603091..109619616, 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

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
Genome-wide association study of recurrent early-onset major depressive disorder.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
PubMed 
G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding NAS
Non-traceable Author Statement
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
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
PubMed 
detection of chemical stimulus involved in sensory perception of bitter taste IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
heterotrimeric G-protein complex NAS
Non-traceable Author Statement
more info
PubMed 
photoreceptor inner segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
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
 

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
transducin alpha-2 chain
transducin, cone-specific, alpha polypeptide

NCBI Reference Sequences (RefSeq)

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
    5000..14830
    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
  2. NM_001379232.1NP_001366161.1  guanine nucleotide-binding protein G(t) subunit alpha-2

    Status: REVIEWED

    Source sequence(s)
    AL355310
  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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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