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Aliases for GNAT2 Gene

Aliases for GNAT2 Gene

  • G Protein Subunit Alpha Transducin 2 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity Polypeptide 2 2 3
  • Transducin Alpha-2 Chain 3 4
  • 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
  • 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 Apoptotic Pathways in Synovial Fibroblasts and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAT1.

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

Additional gene information for GNAT2 Gene

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

Genomics for GNAT2 Gene

GeneHancer (GH) Regulatory Elements for GNAT2 Gene

Promoters and enhancers for GNAT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J109618 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -2.1 -2101 7.1 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 GNAT2 AMPD2 AMIGO1 SYPL2 ENSG00000260246 ENSG00000228703
GH01J109614 Promoter 0.5 EPDnew 650.4 +6.8 6826 0.1 GNAT2 AMPD2 GC01P109607 GNAI3
GH01J109761 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.6 -144.9 -144900 5.9 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 ZNF766 FOS ATF7 EPS8L3 GSTM3 AHCYL1 ENSG00000228703 AMPD2 ENSG00000254942 GPR61 GNAT2 GNAI3 CSF1
GH01J109643 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 -23.6 -23645 0.7 HDGF ARID4B ZNF2 GLIS2 ZNF213 ARID2 ZNF143 ATF7 DEK RXRA GSTM4 GNAT2 AMPD2 GNAI3 MIR197 ENSG00000225113 RNU6V GSTM3 GC01M109631 RPL7P8
GH01J109570 Enhancer 0.9 Ensembl ENCODE 11.5 +49.2 49228 0.2 CLOCK CEBPG CTBP1 GATA3 PRDM10 RCOR1 ZNF639 SMARCE1 ZEB2 DPF2 RNU6V GNAT2 AMPD2 ENSG00000225113 ENSG00000228703 GNAI3 MIR197 ENSG00000254942 GPR61 GC01M109593
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNAT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNAT2 gene promoter:
  • SRF (504 AA)
  • SRF
  • CP2
  • C/EBPalpha
  • Egr-3
  • AREB6
  • AP-4
  • Pbx1a
  • Bach2
  • ZID

Genomic Locations for GNAT2 Gene

Genomic Locations for GNAT2 Gene
chr1:109,602,906-109,619,929
(GRCh38/hg38)
Size:
17,024 bases
Orientation:
Minus strand
chr1:110,145,889-110,155,705
(GRCh37/hg19)
Size:
9,817 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

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

Gene Families for GNAT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

Function for GNAT2 Gene

Molecular function for GNAT2 Gene

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.
GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha transducin,retinal cone cells

Phenotypes From GWAS Catalog for GNAT2 Gene

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 IEA,TAS --
GO:0004871 obsolete signal transducer activity IEA --
GO:0005525 GTP binding IEA,TAS --
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

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

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAT2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS,IEA --
GO:0001917 photoreceptor inner segment IDA,IEA 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 and Subcellular locations from the Human Protein Atlas (HPA) for GNAT2 Gene

Pathways & Interactions for GNAT2 Gene

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

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:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IEA,IBA --
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS,IEA --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
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
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
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
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
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

(2) 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for GNAT2 Gene



Protein tissue co-expression partners for GNAT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GNAT2 Gene:

GNAT2

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.

Evidence on tissue expression from TISSUES for GNAT2 Gene

  • Eye(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAT2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GNAT2: view

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 34 33
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GNAT2 34 33
  • 93.22 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNAT2 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAT2 34 33
  • 92.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gnat2 16 34 33
  • 89.55 (n)
rat
(Rattus norvegicus)
Mammalia Gnat2 33
  • 88.79 (n)
chicken
(Gallus gallus)
Aves GNAT2 34 33
  • 81.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNAT2 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100216126 33
  • 78.53 (n)
Str.15316 33
zebrafish
(Danio rerio)
Actinopterygii gnat2 34 33 33
  • 75.24 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta G-ialpha65A 35
  • 64 (a)
G-oalpha47A 34
  • 58 (a)
OneToMany
Galpha73B 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea goa-1 34
  • 58 (a)
OneToMany
gpa-4 35
  • 50 (a)
gpa-7 35
  • 49 (a)
odr-3 35
  • 48 (a)
gpa-3 35
  • 48 (a)
gpa-1 35
  • 43 (a)
gpa-2 35
  • 42 (a)
gpa-8 35
  • 41 (a)
gpa-15 35
  • 40 (a)
gpa-9 35
  • 38 (a)
gpa-11 35
  • 38 (a)
gpa-6 35
  • 37 (a)
gpa-10 35
  • 35 (a)
rice
(Oryza sativa)
Liliopsida Os.11635 33
Species where no ortholog for GNAT2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GNAT2: view image

Paralogs for GNAT2 Gene

Paralogs for GNAT2 Gene

(19) SIMAP similar genes for GNAT2 Gene using alignment to 2 proteins:

  • GNAT2_HUMAN
  • Q5T697_HUMAN

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 Variation AA Info Type
rs12046787 uncertain-significance, Achromatopsia 109,608,723(-) G/A coding_sequence_variant, synonymous_variant
rs121434585 pathogenic, Achromatopsia 4 109,610,108(-) G/A coding_sequence_variant, stop_gained
rs140250745 uncertain-significance, Achromatopsia 109,610,086(-) C/G/T coding_sequence_variant, missense_variant
rs143354905 likely-benign, Pontocerebellar hypoplasia, type 9, Spastic paraplegia 63, autosomal recessive 109,621,247(-) G/A upstream_transcript_variant
rs146945932 uncertain-significance, not specified, Achromatopsia 109,610,479(-) G/A coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv2299 CNV deletion 18451855
nsv510951 OTHER complex 20534489

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)

Additional Variant Information for GNAT2 Gene

Human Gene Mutation Database (HGMD)
GNAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAT2

SNP Genotyping and Copy Number Assay Products

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

Disorders for GNAT2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for GNAT2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for GNAT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 TA … Fong SL (Genomics 1993) 2 3 4 22 58
  2. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PMID: 19592100) Thiadens AA … Klaver CC (Ophthalmology 2009) 3 22 44 58
  3. Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit. (PMID: 1936270) Kubo M … Kakinuma M (FEBS letters 1991) 3 4 22 58
  4. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J … Levinson DF (Molecular psychiatry 2011) 3 44 58
  5. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PMID: 15712225) Nishiguchi KM … Dryja TP (Human mutation 2005) 4 22 58

Products for GNAT2 Gene

Sources for GNAT2 Gene

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