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

Summary

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

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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)

Endonuclease-mediated (1)
Spontaneous (3) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gnat2 (e-PCR), detects polymorphism
- UniSTS:496678

NoName (e-PCR)
- UniSTS:488254

AW490837 (e-PCR)
- UniSTS:178918

L10666 (e-PCR)
- UniSTS:163326

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)

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

107994120..108008748

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)