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Aliases for GNAT2 Gene

Aliases for GNAT2 Gene

  • Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity Polypeptide 2 2 3
  • Transducin Alpha-2 Chain 3 4
  • ACHM4 3 6
  • GNATC 3 4
  • Guanine Nucleotide-Binding Protein G(T) Subunit Alpha-2 3
  • Transducin, Cone-Specific, Alpha Polypeptide 3
  • Cone-Type Transducin Alpha Subunit 3

External Ids for GNAT2 Gene

Previous GeneCards Identifiers for GNAT2 Gene

  • GC01M110624
  • GC01M109075
  • GC01M109247
  • GC01M109444
  • GC01M109857
  • GC01M109947
  • GC01M110145
  • GC01M108038

Summaries for GNAT2 Gene

Entrez Gene Summary for GNAT2 Gene

  • 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]

GeneCards Summary for GNAT2 Gene

GNAT2 (Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity Polypeptide 2) is a Protein Coding gene. Diseases associated with GNAT2 include achromatopsia-4 and achromatopsia. Among its related pathways are Signaling by GPCR and Akt Signaling. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot for GNAT2 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase

Tocris Summary for GNAT2 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of second messenger signalling cascades. There are several types of Galpha proteins; Galphas and Galphai bind directly to adenylyl cyclase and stimulate or inhibit its activity, leading to an increase or decrease in cAMP levels respectively.

Gene Wiki entry for GNAT2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAT2 Gene

Genomics for GNAT2 Gene

Regulatory Elements for GNAT2 Gene

Genomic Location for GNAT2 Gene

Start:
109,603,267 bp from pter
End:
109,619,929 bp from pter
Size:
16,663 bases
Orientation:
Minus strand

Genomic View for GNAT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAT2 Gene

Proteins for GNAT2 Gene

  • Protein details for GNAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19087-GNAT2_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(t) subunit alpha-2
    Protein Accession:
    P19087
    Secondary Accessions:

    Protein attributes for GNAT2 Gene

    Size:
    354 amino acids
    Molecular mass:
    40176 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site

neXtProt entry for GNAT2 Gene

Proteomics data for GNAT2 Gene at MOPED

Post-translational modifications for GNAT2 Gene

  • Ubiquitination at Lys46
  • Modification sites at PhosphoSitePlus

Other Protein References for GNAT2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GNAT2 Gene

Domains for GNAT2 Gene

Graphical View of Domain Structure for InterPro Entry

P19087

UniProtKB/Swiss-Prot:

GNAT2_HUMAN :
  • P19087
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAT2: view

No data available for Gene Families for GNAT2 Gene

Function for GNAT2 Gene

Molecular function for GNAT2 Gene

GENATLAS Biochemistry: guanine nucleotide binding protein (G protein),alpha transducin,retinal cone cells
UniProtKB/Swiss-Prot Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase

Gene Ontology (GO) - Molecular Function for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA --
GO:0003924 GTPase activity IBA --
GO:0004871 signal transducer activity --
GO:0005525 GTP binding NAS 1936270
GO:0008020 G-protein coupled photoreceptor activity NAS 2534964
genes like me logo Genes that share ontologies with GNAT2: view
genes like me logo Genes that share phenotypes with GNAT2: view

Animal Model Products

CRISPR Products

miRNA for GNAT2 Gene

miRTarBase miRNAs that target GNAT2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GNAT2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GNAT2 Gene

Localization for GNAT2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNAT2 Gene COMPARTMENTS Subcellular localization image for GNAT2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0001917 photoreceptor inner segment IDA 2534964
GO:0005834 heterotrimeric G-protein complex NAS 1936270
GO:0005886 plasma membrane TAS --
GO:0042622 photoreceptor outer segment membrane ISS --
genes like me logo Genes that share ontologies with GNAT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNAT2 Gene

Pathways for GNAT2 Gene

genes like me logo Genes that share pathways with GNAT2: view

Pathways by source for GNAT2 Gene

Interacting Proteins for GNAT2 Gene

Gene Ontology (GO) - Biological Process for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IBA --
GO:0006184 obsolete GTP catabolic process --
GO:0007165 signal transduction --
GO:0007186 G-protein coupled receptor signaling pathway NAS 2534964
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
genes like me logo Genes that share ontologies with GNAT2: view

Compounds for GNAT2 Gene

(5) Tocris Compounds for GNAT2 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG [51116-01-9]
CCG 50014 Potent and selective inhibitor of regulator of G-protein signaling 4 (RGS4) protein [883050-24-6]
Gallein Inhibitor of betagamma signaling [2103-64-2]
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors [265980-25-4]

(3) HMDB Compounds for GNAT2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1

(1) Novoseek inferred chemical compound relationships for GNAT2 Gene

Compound -log(P) Hits PubMed IDs
chloramphenicol 25.1 1
genes like me logo Genes that share compounds with GNAT2: view

Transcripts for GNAT2 Gene

mRNA/cDNA for GNAT2 Gene

(3) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(19) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GNAT2 Gene

Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GNAT2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNAT2 Gene

No ASD Table

Relevant External Links for GNAT2 Gene

GeneLoc Exon Structure for
GNAT2
ECgene alternative splicing isoforms for
GNAT2

Expression for GNAT2 Gene

mRNA expression in normal human tissues for GNAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNAT2 Gene

This gene is overexpressed in Testis (9.1) and Whole Blood (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GNAT2 Gene

SOURCE GeneReport for Unigene cluster for GNAT2 Gene Hs.36973

mRNA Expression by UniProt/SwissProt for GNAT2 Gene

P19087-GNAT2_HUMAN
Tissue specificity: Retinal rod outer segment
genes like me logo Genes that share expressions with GNAT2: view

In Situ Assay Products

Orthologs for GNAT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GNAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNAT2 35
  • 100 (n)
  • 100 (a)
GNAT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNAT2 35
  • 93.22 (n)
  • 96.61 (a)
GNAT2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAT2 35
  • 92.84 (n)
  • 96.33 (a)
GNAT2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnat2 35
  • 89.55 (n)
  • 95.76 (a)
Gnat2 16
Gnat2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNAT2 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnat2 35
  • 88.79 (n)
  • 95.48 (a)
chicken
(Gallus gallus)
Aves GNAT2 35
  • 81.07 (n)
  • 90.96 (a)
GNAT2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNAT2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100216126 35
  • 78.53 (n)
  • 87.85 (a)
Str.15316 35
zebrafish
(Danio rerio)
Actinopterygii gnat2 35
  • 75.24 (n)
  • 81.07 (a)
gnat2 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta G-oalpha47A 36
  • 58 (a)
OneToMany
Galpha73B 37
  • 37 (a)
G-ialpha65A 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea goa-1 36
  • 58 (a)
OneToMany
odr-3 37
  • 48 (a)
gpa-6 37
  • 37 (a)
gpa-4 37
  • 50 (a)
gpa-10 37
  • 35 (a)
gpa-15 37
  • 40 (a)
gpa-8 37
  • 41 (a)
gpa-3 37
  • 48 (a)
gpa-9 37
  • 38 (a)
gpa-1 37
  • 43 (a)
gpa-7 37
  • 49 (a)
gpa-11 37
  • 38 (a)
gpa-2 37
  • 42 (a)
rice
(Oryza sativa)
Liliopsida Os.11635 35
Species with no ortholog for GNAT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAT2 Gene

ENSEMBL:
Gene Tree for GNAT2 (if available)
TreeFam:
Gene Tree for GNAT2 (if available)

Paralogs for GNAT2 Gene

Paralogs for GNAT2 Gene

Selected SIMAP similar genes for GNAT2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for GNAT2 Gene

genes like me logo Genes that share paralogs with GNAT2: view

Variants for GNAT2 Gene

Sequence variations from dbSNP and Humsavar for GNAT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3022 -- 109,603,165(-) AGAGC(A/C)CAGGT downstream-variant-500B
rs475858 -- 109,612,515(+) TTCCT(C/T)GCTCA intron-variant
rs476641 -- 109,613,427(+) GTCCT(C/G)GCCAG upstream-variant-2KB
rs485334 -- 109,603,009(-) ACGAA(C/G)ATAAC downstream-variant-500B
rs508997 -- 109,614,628(+) gccaa(A/G)gtgga upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GNAT2 Gene

Variant ID Type Subtype PubMed ID
nsv510951 CNV Complex 20534489
nsv2299 CNV Loss 18451855

Relevant External Links for GNAT2 Gene

HapMap Linkage Disequilibrium report
GNAT2
Human Gene Mutation Database (HGMD)
GNAT2
Locus Specific Mutation Databases (LSDB)
GNAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAT2 Gene

Disorders for GNAT2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (7) Diseases for GNAT2 Gene including...

Search for GNAT2 Gene in MalaCards »

(1) OMIM Diseases for GNAT2 Gene (139340)

UniProtKB/Swiss-Prot

GNAT2_HUMAN
  • Achromatopsia 4 (ACHM4) [MIM:613856]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GNAT2 Gene

(5) Novoseek inferred disease relationships for GNAT2 Gene

Disease -log(P) Hits PubMed IDs
achromatopsia 95.9 7
cone-rod dystrophy 78.2 1
stargardts disease 70.3 4
diphtheria 37.3 2
retinoblastoma 27 1

Relevant External Links for GNAT2

GeneTests
GNAT2
GeneReviews
GNAT2
Genetic Association Database (GAD)
GNAT2
Human Genome Epidemiology (HuGE) Navigator
GNAT2
genes like me logo Genes that share disorders with GNAT2: view

Publications for GNAT2 Gene

  1. Characterization of the gene encoding human cone transducin alpha- subunit (GNAT2). (PMID: 8406495) Morris A.T. … Fong S. (Genomics 1993) 2 3 4 23
  2. Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit. (PMID: 1936270) Kubo M. … Kakinuma M. (FEBS Lett. 1991) 3 4 23
  3. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PMID: 19592100) Thiadens A.A. … Klaver C.C. (Ophthalmology 2009) 3 23 48
  4. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PMID: 15712225) Nishiguchi K.M. … Dryja T.P. (Hum. Mutat. 2005) 4 23
  5. Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2). (PMID: 9008644) Morris T.A. … Fong S.L. (Invest. Ophthalmol. Vis. Sci. 1997) 3 23

Products for GNAT2 Gene

Sources for GNAT2 Gene

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