Format

Send to:

Choose Destination

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

Gene ID: 2780, updated on 5-Aug-2018

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; Vega:OTTHUMG00000011639
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 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (109603091..109619733, 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
  • Ca2+ pathway, organism-specific biosystem (from REACTOME)
    Ca2+ pathway, organism-specific biosystemA number of so called non-canonical WNT ligands have been shown to promote intracellular calcium release upon FZD binding. This beta-catenin-independent WNT pathway acts through heterotrimeric G pro...
  • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
    Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
  • Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystem (from REACTOME)
    Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystemThe chaperonin complex TRiC/CCT is needed for the proper folding of all five G-protein beta subunits (Wells et al. 2006). TRiC/CCT cooperates with the phosducin-like protein PDCL (commonly known as P...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • G-protein activation, organism-specific biosystem (from REACTOME)
    G-protein activation, organism-specific biosystemReceptor activated heterotrimeric G proteins consist of the Galpha and the tightly associated Gbeta-gamma subunits. When a ligand binds to a G protein-coupled receptor, it stabilises a conformation ...
  • G-protein mediated events, organism-specific biosystem (from REACTOME)
    G-protein mediated events, organism-specific biosystemWhen dissociated Galpha-GTP and Gbeta-gamma can activate or inhibit different signalling cascades and effector proteins. The precise pathways depends on the identity of the alpha and beta/gamma subty...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Opioid Signalling, organism-specific biosystem (from REACTOME)
    Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
  • PLC beta mediated events, organism-specific biosystem (from REACTOME)
    PLC beta mediated events, organism-specific biosystemThe phospholipase C (PLC) family of enzymes is both diverse and complex. The isoforms beta, gamma and delta (each have subtypes) make up the members of this family. PLC hydrolyzes phosphatidylinosito...
  • Phototransduction, organism-specific biosystem (from KEGG)
    Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Phototransduction, conserved biosystem (from KEGG)
    Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Protein folding, organism-specific biosystem (from REACTOME)
    Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • Visual signal transduction: Cones, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Cones, organism-specific biosystem
    Visual signal transduction: Cones

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 beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
GTP binding NAS
Non-traceable Author Statement
more info
PubMed 
GTP binding TAS
Traceable Author Statement
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
 
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
    5001..14817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005272.3NP_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)
    AF493909, AL355310, BC000233
    Consensus CDS
    CCDS803.1
    UniProtKB/Swiss-Prot
    P19087
    UniProtKB/TrEMBL
    Q5T697
    Related
    ENSP00000251337.3, OTTHUMP00000013354, ENST00000351050.7, OTTHUMT00000032181
    Conserved Domains (1) summary
    cd00066
    Location:34348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    109603091..109619733 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541264.2XP_011539566.1  guanine nucleotide-binding protein G(t) subunit alpha-2 isoform X1

    See identical proteins and their annotated locations for XP_011539566.1

    UniProtKB/Swiss-Prot
    P19087
    UniProtKB/TrEMBL
    Q5T697
    Conserved Domains (1) summary
    cd00066
    Location:34348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
Support Center