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

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: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109603091..109619616, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109635806..109652336, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (110145713..110162238, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The cone mosaic in GNAT2-ACHM (GNAT2-achromatopsia) is relatively well preserved, potentially allowing for a wide therapeutic window for cone-directed interventions.
Title: Photoreceptor Structure in GNAT2-Associated Achromatopsia.
Study identified a total 22 different potentially Achromatopsia-causing variants, of which 12 are novel. The mutation spectrum also includes a novel copy number variation, a heterozygous duplication of exon 4, of which the breakpoint matches exactly that of the previously reported exon 4 deletion.
Title: Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R).
Title: Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Single nucleotide polymorphisms in GNAT2 gene is associated with obesity.
Title: Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia.
Title: Clinical utility gene card for: achromatopsia.
Expression of GNAT2 transgene, when found in rod photoreceptor cells rather than in cones, demonstrates different mechanisms of amplification in the body's G-protein alpha cascades and the activation of phosphodiesterase 6.
Title: Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay.
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Title: Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
We detected a deletion of a highly conserved lysine at codon 270 in a critical functional area of the alpha-cone transducin molecule, and therefore is not the disease causing mutation.
Title: A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.
mutations in GNAT2 are implicated in achromatopsia
Title: Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Achromatopsia 4 MedGen: C1841721 OMIM: 613856 GeneReviews: Achromatopsia	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75263 (e-PCR)
- UniSTS:51760

G42982 (e-PCR)
- UniSTS:94856

GDB:376941 (e-PCR)
- UniSTS:157068

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

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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)

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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.

Genomic

NG_009099.2 RefSeqGene

Range

5000..21525

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001377295.2 → NP_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:34 → 348

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001379232.1 → NP_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:34 → 348

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_005272.5 → NP_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:34 → 348

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)