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Aliases for GNAT2 Gene

Aliases for GNAT2 Gene

  • G Protein Subunit Alpha Transducin 2 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity Polypeptide 2 2 3 5
  • Transducin Alpha-2 Chain 3 4
  • GNATC 3 4
  • Transducin, Cone-Specific, Alpha Polypeptide 3
  • Cone-Type Transducin Alpha Subunit 3
  • ACHM4 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 (G Protein Subunit Alpha Transducin 2) is a Protein Coding gene. Diseases associated with GNAT2 include Achromatopsia-4 and Cone-Rod Dystrophy 6. Among its related pathways are EphB-EphrinB Signaling and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include GTP binding and signal transducer 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 binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

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

Enhancers for GNAT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GNAT2 on UCSC Golden Path with GeneCards custom track

Promoters for GNAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GNAT2 Gene

Chromosome:
1
Start:
109,602,906 bp from pter
End:
109,619,929 bp from pter
Size:
17,024 bases
Orientation:
Minus strand

Genomic View for GNAT2 Gene

Genes around GNAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNAT2 Gene

Domains & Families for GNAT2 Gene

Graphical View of Domain Structure for InterPro Entry

P19087

UniProtKB/Swiss-Prot:

GNAT2_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
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:0031683 G-protein beta/gamma-subunit complex binding IEA,IBA --
genes like me logo Genes that share ontologies with GNAT2: view

Phenotypes for GNAT2 Gene

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

Human Phenotype Ontology for GNAT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GNAT2 Gene

miRTarBase miRNAs that target GNAT2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 4
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GNAT2 Gene

Pathways & Interactions for GNAT2 Gene

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

Interacting Proteins for GNAT2 Gene

SIGNOR curated interactions for GNAT2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,NAS 2534964
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
genes like me logo Genes that share ontologies with GNAT2: view

Drugs & Compounds for GNAT2 Gene

(4) Drugs for GNAT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNAT2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAT2 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
Mastoparan Activates Gi and Go 72093-21-1
Mastoparan X G protein activator peptide 72093-22-2
NF 023 Selective, competitive P2X1 antagonist 104869-31-0
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAT2: view

Transcripts for GNAT2 Gene

mRNA/cDNA for GNAT2 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(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:

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 (x9.1) and Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for GNAT2 Gene

This gene is overexpressed in Retina (48.3), Brain (12.4), and Lung (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GNAT2: view

Protein tissue co-expression partners for GNAT2 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia GNAT2 35
  • 100 (n)
  • 100 (a)
GNAT2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnat2 35
  • 88.79 (n)
  • 95.48 (a)
oppossum
(Monodelphis domestica)
Mammalia GNAT2 36
  • 93 (a)
OneToOne
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-ialpha65A 37
  • 64 (a)
Galpha73B 37
  • 37 (a)
G-oalpha47A 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gpa-1 37
  • 43 (a)
gpa-10 37
  • 35 (a)
gpa-11 37
  • 38 (a)
gpa-15 37
  • 40 (a)
gpa-2 37
  • 42 (a)
gpa-3 37
  • 48 (a)
gpa-4 37
  • 50 (a)
gpa-6 37
  • 37 (a)
gpa-7 37
  • 49 (a)
gpa-8 37
  • 41 (a)
gpa-9 37
  • 38 (a)
odr-3 37
  • 48 (a)
goa-1 36
  • 58 (a)
OneToMany
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

(19) 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
rs1799940 - 109,606,350(-) CACAG(A/G)CATCA reference, missense
rs3738766 - 109,608,773(-) GACAG(A/C)TCAAC reference, missense
rs41280330 - 109,608,722(+) CTCCA(C/T)GAGCT reference, missense
rs3022 -- 109,603,165(-) AGAGC(A/C)CAGGT downstream-variant-500B, utr-variant-3-prime
rs475858 -- 109,612,515(+) TTCCT(C/T)GCTCA intron-variant

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

Variation tolerance for GNAT2 Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.48; 71.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAT2 Gene

Human Gene Mutation Database (HGMD)
GNAT2

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

Disorders for GNAT2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GNAT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achromatopsia-4
  • achromatopsia 4
cone-rod dystrophy 6
  • cone dystrophy
achromatopsia
  • achm
stargardt disease
  • stargardt disease 1
oligocone trichromacy
  • oligocone syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GNAT2 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:12077706}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNAT2

Genetic Association Database (GAD)
GNAT2
Human Genome Epidemiology (HuGE) Navigator
GNAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNAT2
genes like me logo Genes that share disorders with GNAT2: view

No data available for Genatlas for GNAT2 Gene

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 67
  2. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PMID: 19592100) Thiadens A.A. … Klaver C.C. (Ophthalmology 2009) 3 23
  3. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. (PMID: 15094710) PiA+a A.L. … Koenekoop R.K. (Mol. Vis. 2004) 3 23
  4. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. (PMID: 15557429) Rosenberg T. … Wissinger B. (Invest. Ophthalmol. Vis. Sci. 2004) 3 23
  5. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). (PMID: 12205108) Aligianis I.A. … Maher E.R. (J. Med. Genet. 2002) 3 23

Products for GNAT2 Gene

Sources for GNAT2 Gene

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