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Gnat2 G protein subunit alpha transducin 2 [ Mus musculus (house mouse) ]

Gene ID: 14686, updated on 11-Apr-2024

Summary

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Official Symbol
Gnat2provided by MGI
Official Full Name
G protein subunit alpha transducin 2provided by MGI
Primary source
MGI:MGI:95779
See related
Ensembl:ENSMUSG00000009108 AllianceGenome:MGI:95779
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gt-2; Hg1d; Gnat-2; Tcalpha
Summary
Predicted to enable G protein-coupled receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Acts upstream of or within detection of light stimulus involved in visual perception; phototransduction; and retinal cone cell development. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. Predicted to be active in photoreceptor inner segment and photoreceptor outer segment. Is expressed in early conceptus; primary oocyte; retina; retina outer nuclear layer; and secondary oocyte. Used to study achromatopsia 4. Human ortholog(s) of this gene implicated in achromatopsia 4 and color blindness. Orthologous to human GNAT2 (G protein subunit alpha transducin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in adrenal adult (RPKM 2.2), genital fat pad adult (RPKM 1.0) and 11 other tissues See more
Orthologs
human all
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Genomic context

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Location:
3 F2.3; 3 46.83 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (107994120..108008748)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (108086788..108101432)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36498 Neighboring gene glutathione S-transferase, mu 4 Neighboring gene predicted gene, 25592 Neighboring gene STARR-seq mESC enhancer starr_08678 Neighboring gene adenosine monophosphate deaminase 2 Neighboring gene predicted gene 12500 Neighboring gene G protein subunit alpha i3 Neighboring gene STARR-positive B cell enhancer ABC_E2092 Neighboring gene STARR-positive B cell enhancer ABC_E2093 Neighboring gene G protein-coupled receptor 61

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Short-Wavelength (Violet) Light Protects Mice From Myopia Through Cone Signaling. Strickland R, et al. Invest Ophthalmol Vis Sci, 2020 Feb 7. PMID 32049342, Free PMC Article
  2. Rod Photoresponse Kinetics Limit Temporal Contrast Sensitivity in Mesopic Vision. Umino Y, et al. J Neurosci, 2019 Apr 17. PMID 30737308, Free PMC Article
  3. Lack of cone mediated retinal function increases susceptibility to form-deprivation myopia in mice. Chakraborty R, et al. Exp Eye Res, 2019 Mar. PMID 30605665, Free PMC Article
  4. Visual Temporal Contrast Sensitivity in the Behaving Mouse Shares Fundamental Properties with Human Psychophysics. Umino Y, et al. eNeuro, 2018 Jul-Aug. PMID 30225342, Free PMC Article
  5. Loss of cone function without degeneration in a novel Gnat2 knock-out mouse. Ronning KE, et al. Exp Eye Res, 2018 Jun. PMID 29518352, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rod Photoreceptors Avoid Saturation in Bright Light by the Movement of the G Protein Transducin.
    Title: Rod Photoreceptors Avoid Saturation in Bright Light by the Movement of the G Protein Transducin.
  2. Data suggest light reduces oxygen consumption rate (OCR) of retina; light does not affect OCR in retinas of Gnat1-/- knockout mice (phototransduction disabled). Light reduces cGMP in retina; light does not alter cGMP in Gnat1-/- plus Gnat2-/- retina.
    Title: Phototransduction Influences Metabolic Flux and Nucleotide Metabolism in Mouse Retina.
  3. The Gnat2(c.518A>G) mouse contains a missense mutation that results in no cone function due to a misfolding of transducin. Cone photoreceptors also show signs of opsin mislocalization, retinal remodeling and degeneration.
    Title: A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype.
  4. rod and cone transducin alpha-subunits are functionally interchangeable and their signaling properties do not contribute to the intrinsic light sensitivity differences between rods and cones
    Title: Functional interchangeability of rod and cone transducin alpha-subunits.
  5. The Gnat2(cpfl3) mutation leads to cone dysfunction and the progressive loss of cone alpha-transducin immunolabeling.
    Title: Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity TAS
Traceable Author Statement
more info
 PubMed 
enables guanyl nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within L-glutamate import IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within background adaptation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within camera-type eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cone retinal bipolar cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 chemical stimulus involved in sensory perception of bitter taste ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within detection of light stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within detection of light stimulus IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within detection of light stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in detection of light stimulus involved in visual perception ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within dopamine metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within homeostasis of number of retina cells IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neural tissue regeneration IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within phototransduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within phototransduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of cytosolic calcium ion concentration ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within reactive gliosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to UV IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to light intensity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to light intensity ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to light stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within response to light stimulus IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within response to light stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to organic cyclic compound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within retinal cone cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within retinal cone cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within retinal cone cell differentiation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within retinal cone cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within retinal rod cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within retinal rod cell differentiation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within retinal rod cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within tissue remodeling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within visual behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within visual perception IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within visual perception TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
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 TAS
Traceable Author Statement
more info
 PubMed 
located_in membrane TAS
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 ISO
Inferred from Sequence Orthology
more info
  
is_active_in photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
guanine nucleotide-binding protein G(t) subunit alpha-2
Names
guanine nucleotide binding protein, alpha transducing 2
heterotrimeric guanine nucleotide-binding protein 1d
transducin alpha-2 chain

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_008141.3 → NP_032167.1  guanine nucleotide-binding protein G(t) subunit alpha-2

    See identical proteins and their annotated locations for NP_032167.1

    Status: VALIDATED

    Source sequence(s)
    AL671854, BC016272, BC085102
    Consensus CDS
    CCDS17750.1
    UniProtKB/Swiss-Prot
    P50149
    UniProtKB/TrEMBL
    A2AE33, Q9D7B3
    Related
    ENSMUSP00000053818.9, ENSMUST00000058669.15
    Conserved Domains (1) summary
    cd00066
    Location:34 → 348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    107994120..108008748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501008.4 → XP_006501071.1  guanine nucleotide-binding protein G(t) subunit alpha-2 isoform X1

    See identical proteins and their annotated locations for XP_006501071.1

    UniProtKB/Swiss-Prot
    P50149
    UniProtKB/TrEMBL
    A2AE33, Q9D7B3
    Conserved Domains (1) summary
    cd00066
    Location:34 → 348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

  2. XM_036162902.1 → XP_036018795.1  guanine nucleotide-binding protein G(t) subunit alpha-2 isoform X1

    UniProtKB/Swiss-Prot
    P50149
    UniProtKB/TrEMBL
    A2AE33, Q9D7B3
    Conserved Domains (1) summary
    cd00066
    Location:34 → 348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

  3. XM_030252431.1 → XP_030108291.1  guanine nucleotide-binding protein G(t) subunit alpha-2 isoform X2

    UniProtKB/TrEMBL
    Q9D7B3
    Conserved Domains (1) summary
    cd00066
    Location:34 → 319
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50149.2 GenPept UniProtKB/Swiss-Prot:P50149

Gene LinkOut

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