Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNAT2 Gene

protein-coding   GIFtS: 63
GCID: GC01M110145

guanine nucleotide binding protein (G protein), alpha transducing...
 Explore 21 diseases affiliated with
GNAT2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GNAT2    

Aliases
for GNAT2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity
Polypeptide 21 2
     Cone-Type Transducin Alpha Subunit2
ACHM41 2 5     Guanine Nucleotide-Binding Protein G(T) Subunit Alpha-22
Transducin Alpha-2 Chain2 3     Transducin, Cone-Specific, Alpha Polypeptide2
GNATC2 3     

External Ids:    HGNC: 43941   Entrez Gene: 27802   Ensembl: ENSG000001341837   OMIM: 1393405   UniProtKB: P190873   

Export aliases for GNAT2 gene to outside databases

Previous GC identifers: GC01M110624 GC01M109075 GC01M109247 GC01M109444 GC01M109857 GC01M109947 GC01M108038


Summaries
for GNAT2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GNAT2:
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)

UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
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

summary for GNAT2:
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


Genomic Views
for GNAT2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNAT2 gene promoter:
         Egr-3   SRF   Pbx1a   Bach2   SRF (504 AA)   AP-4   C/EBPalpha   AREB6   CP2   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GNAT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GNAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNAT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.1   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M110145:  view genomic region     (about GC identifiers)

Start:
 110,145,889 bp from pter      End:
 110,155,705 bp from pter
Size:
 9,817 bases      Orientation:
 minus strand

Proteins
for GNAT2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(t) subunit alpha-2  
Size: 354 amino acids; 40176 Da
Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide
binding site

Explore the universe of human proteins at neXtProt for GNAT2: NX_P19087

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P19087

    • GNAT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005263.1  
    ENSEMBL proteins: 
     ENSP00000251337  
    Reactome Protein details: P19087
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: GNAT2
    OriGene Protein Over-expression Lysate: GNAT2
    OriGene Custom Protein Services for GNAT2 
    GenScript Custom Purified and Recombinant Proteins Services for GNAT2
    Novus Biologicals GNAT2 Protein
    Novus Biologicals GNAT2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0001917photoreceptor inner segment IDA2534964
    GO:0005834heterotrimeric G-protein complex NAS1936270
    GO:0005886plasma membrane TAS--
    GO:0031234extrinsic to internal side of plasma membrane IBA--


    GNAT2 for ontologies           About GeneDecksing



    GNAT2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: GNAT2
    OriGene Custom Antibody Services for GNAT2 
    GenScript Custom Superior Antibodies Services for GNAT2
    Novus Biologicals GNAT2 Antibody
    Search for Antibodies for GNAT2 at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for GNAT2

    Assay Products for GNAT2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GNAT2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for GNAT2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GNAT2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001019 Gprotein_alpha_su
     IPR011025 GproteinA_insert
     IPR001408 Gprotein_alpha_I

    Graphical View of Domain Structure for InterPro Entry P19087

    ProtoNet protein and cluster: P19087

    2 Blocks protein families:
    IPB001019 Alpha G-protein (transducin) signature
    IPB001408 G-protein alpha subunit group I signature


    UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
    Similarity: Belongs to the G-alpha family. G(i/o/t/z) subfamily


    Function
    for GNAT2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
    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 entry for GNAT2:
    guanine nucleotide binding protein (G protein),alpha transducin,retinal cone cells

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNAT2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate GNAT2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GNAT2 (see all 7)
    OriGene shRNA RFP: GNAT2
    OriGene siRNA: GNAT2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GNAT2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GNAT2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GNAT2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GNAT2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: GNAT2 (NM_005272)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAT2 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for GNAT2
    Search LifeMap BioReagents cell lines for GNAT2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAT2

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003924GTPase activity IBA--
    GO:0004871signal transducer activity IBA--
    GO:0005525GTP binding NAS1936270
    GO:0008020G-protein coupled photoreceptor activity NAS2534964


    GNAT2 for ontologies           About GeneDecksing


    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gnat2):
     cardiovascular system  nervous system  vision/eye 

    GNAT2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GNAT2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/23 super-pathways (see all 23) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-Beta Gamma Signaling
    		G-Beta Gamma Signaling1.00
    		Relaxin Pathway0.32
    		GHRH Signaling0.46
    		Hedgehog Signaling in Mammals0.22
    		CRHR Pathway0.44
    2Rho Family GTPases
    		Rho Family GTPases1.00
    		Molecular Mechanisms of Cancer0.51
    		ERK Signaling0.61
    		MAPK Signaling0.51
    3CREB Pathway
    		CREB Pathway1.00
    		Activation of PKC through GPCR0.63
    		IP3 Pathway0.68
    		Intracellular Calcium Signaling0.50
    4Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    5Opioid Signalling
    		Opioid Signalling1.00
    		PLC beta mediated events0.54
    		G-protein mediated events0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/35 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GNAT2 (see all 35)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CDK5 Pathway
    ERK5 Signaling

    1 BioSystems Pathway for GNAT2 
        Visual signal transduction- Cones

    5/8        Reactome Pathways for GNAT2 (see all 8)
        GPCR downstream signaling
    G-protein activation
    G-protein mediated events
    PLC beta mediated events
    Signal Transduction


    1         Kegg Pathway  (Kegg details for GNAT2):
        Phototransduction


    GNAT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GNAT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for GNAT2 (P190873 ENSP000002513374) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783523I2D: score=1 
    SYPP082473I2D: score=1 
    CNGA3ENSP000002726024STRING: ENSP00000272602
    CNGB3ENSP000003166054STRING: ENSP00000316605
    GNA15ENSP000002629584STRING: ENSP00000262958
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001580detection of chemical stimulus involved in sensory perception of bitter taste IBA--
    GO:0006184GTP catabolic process IBA--
    GO:0007186G-protein coupled receptor signaling pathway NAS2534964
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA--
    GO:0007204elevation of cytosolic calcium ion concentration IEA--


    GNAT2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GNAT2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GNAT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GNAT2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Mastoparan XG protein activator peptide[72093-22-2]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

    3 HMDB Compounds for GNAT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    1 Novoseek chemical compound relationship for GNAT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloramphenicol 25.1 1 9723991 (1)

    Search CenterWatch for drugs/clinical trials and news about GNAT2 

    Transcripts
    for GNAT2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GNAT2 gene: 
    NM_005272.3  

    Unigene Cluster for GNAT2:

    Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
    Hs.36973  [show with all ESTs]
    Unigene Representative Sequence: NM_005272
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000351050(uc001dya.3)

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNAT2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate GNAT2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GNAT2 (see all 7)
    OriGene shRNA RFP: GNAT2
    OriGene siRNA: GNAT2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GNAT2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GNAT2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GNAT2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: GNAT2 (NM_005272)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAT2 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GNAT2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GNAT2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GNAT2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNAT2

    Additional cDNA sequence: 

    AF493909.1 BC000233.1 BT009844.1 

    3 DOTS entries:

    DT.103502  DT.121383298  DT.70104272 

    19 AceView cDNA sequences:

    BC000233 BX090868 AF493909 NM_005272 BQ437824 BE255831 BM083346 BE784016 
    BG472813 CB565936 BE778769 BT009844 BG394342 AI393043 AI817416 CD620138 
    CD620137 BU568606 CD620139 

    GeneLoc Exon Structure


    Expression
    for GNAT2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GNAT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTGTGCTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GNAT2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GNAT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNAT2

    SOURCE GeneReport for Unigene cluster: Hs.36973

    UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
    Tissue specificity: Retinal rod outer segment

        SABiosciences Custom PCR Arrays for GNAT2
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GNAT2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GNAT2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GNAT2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNAT2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAT2

    Orthologs
    for GNAT2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GNAT2 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GNAT21 guanine nucleotide binding protein (G protein), alpha more 81.07(n)
    90.96(a)    		   395425  NM_204690.1  NP_990021.1 
    lizard
    (Anolis carolinensis)    		 Reptilia GNAT26
    		 --
    		 91(a)
    		 1 ↔ 1
    		 4(105784458-105804838)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.153162 Transcribed sequence with moderate similarity to protein more 79.27(n)    BX713359.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii gnat22 guanine nucleotide binding protein (G protein), alpha more 77.68(n)   140429  AY050500.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea gpa-43 guanine nucleotide-binding protein 50(a)
    (best of 12)    		   IV(401635-403790)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons XLG26
    GPA16
    (see all 4)    		 extra-large GTP-binding protein 2
    guanine nucleotide-binding protein alpha-1 subunit...
    (see all 4)    		 9(a)
    32(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 4(16441179-16445005)
    2(11196996-11201102)
    rice
    (Oryza sativa)    		 Liliopsida Os.116352 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.73(n)    AK069964.1 


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

    Paralogs
    for GNAT2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GNAT2 gene
    GNAQ2  GNA142  GNA112  GNAI32  GNA132  GNAT32  GNAT12  GNAI22  
    GNA152  GNA122  GNAZ2  GNAO12  GNAI12  
    18 SIMAP similar genes for GNAT2 using alignment to 2 protein entries:     GNAT2_HUMAN (see all proteins):
    GNAT3    GNAT1    GNAI2    GNAI3    GNAI1    DKFZp686O0962
    GNAZ    GNAO1    GNA11    GNA14    GNAQ    GNAL
    GNA12    GNA13    GNAS    GNA15    GSA    WUGSC

    GNAT2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GNAT2
    PGOHUM00000239846


    Genomic Variants
    for GNAT2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/192 NCBI SNPs in GNAT2 are shown (see all 192)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs4853341,2
    		C,F,O,H,--108038140(-) ACGAAC/GATAAC 1 -- ds500110Minor allele frequency- G:0.09NA EA NS CSA WA 679
    rs1120148251,2
    		C--108038268(+) TGGAACCTGGGGGGTCTT
    CTAACTACTGG    /-    CCTGT     		1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs617546271,2
    		C--108038493(+) GAAGAG/AGCCGC 2 /L /F mis11Minor allele frequency- A:0.00NA 4548
    rs2000564191,2
    		C--108038654(+) TCCCCG/ACATCA 2 /A /V mis11Minor allele frequency- A:0.00EU 1323
    rs1120613801,2
    		--108039532(+) CATGAT/CAGTGG 1 -- int12Minor allele frequency- C:0.06CSA WA 121
    rs170242581,2
    		C,F,H,--108039830(+) GAAGTC/TGGGCT 1 -- int19Minor allele frequency- T:0.05NA NS EA WA 796
    rs741139521,2
    		C,--108039985(+) CCCATA/GATACT 1 -- int12Minor allele frequency- G:0.11WA 120
    rs1117545551,2
    		--108040014(+) GTCTCA/GTAGAC 1 -- int12Minor allele frequency- G:0.05CSA WA 120
    rs1114036621,2
    		C,--108040341(+) GTCATC/TAGCAA 1 -- int12Minor allele frequency- T:0.06CSA WA 120
    rs729870571,2
    		C,--108040839(+) ATGAGC/TTTTGT 1 -- int12Minor allele frequency- T:0.21WA 120

    HapMap Linkage Disequilibrium report for GNAT2 (110145889 - 110155705 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GNAT2
         1 CNV: 34676
    Human Gene Mutation Database (HGMD): GNAT2

    Locus Specific Mutation Databases (LSDB): GNAT2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GNAT2
    DNA2.0 Custom Variant and Variant Library Synthesis for GNAT2

    Disorders / Diseases
    for GNAT2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GNAT2 for disorders           About GeneDecksing

    OMIM gene information: 139340    OMIM disorders: --

    UniProtKB/Swiss-Prot: GNAT2_HUMAN, P19087
  • Defects in GNAT2 are the cause of achromatopsia type 4 (ACHM4) [MIM:613856]. Achromatopsia is an autosomal
    • recessively inherited visual disorder that is present from birth and that features the absence of color discrimination

    20/21 diseases for GNAT2 (see all 21):    About MalaCards
    cone-rod dystrophy    achromatopsia 4    achromatopsia    stargardt disease
    major depressive disorder    cone dystrophy    congenital nystagmus    diphtheria
    usher syndrome    macular degeneration    retinal degeneration    fainting
    nystagmus    genetic disease    pertussis    retinitis
    pharyngitis    blindness    neuronitis    huntington's disease

    2 diseases from the University of Copenhagen DISEASES database for GNAT2:
    Achromatopsia     Congenital nystagmus

    5 Novoseek disease relationships for GNAT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    achromatopsia 95.9 8 12205108 (2), 17065522 (1), 15557429 (1), 19874885 (1) (see all 6)
    cone-rod dystrophy 78.2 1 18593457 (1)
    stargardts disease 70.3 5 7774932 (3), 7705831 (1)
    diphtheria 37.3 3 16054133 (1), 10869099 (1)
    retinoblastoma 27 1 8406495 (1)

    GeneTests: GNAT2
    Achromatopsia

    Human Genome Epidemiology (HuGE) Navigator: GNAT2 (2 documents)

    Export disorders for GNAT2 gene to outside databases

    Publications
    for GNAT2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GNAT2 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with GNAT2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the gene encoding human cone transducin alpha- subunit (GNAT2). (PubMed id 8406495)1, 2, 3, 9 Morris A.T. and Fong S. (1993)
    2. Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit. (PubMed id 1936270)1, 2, 9 Kubo M.... Kakinuma M. (1991)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. (PubMed id 12077706)1, 2 Kohl S.... Wissinger B. (2002)
    5. Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina. (PubMed id 2534964)1, 2 Lerea C.L.... Hurley J.B. (1989)
    6. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. (PubMed id 15094710)1, 9 Pina A.L....Koenekoop R.K. (2004)
    7. Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2). (PubMed id 9008644)1, 9 Morris T.A....Fong S.L. (1997)
    8. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). (PubMed id 12205108)1, 9 Aligianis I.A....Maher E.R. (2002)
    9. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. (PubMed id 15557429)1, 9 Rosenberg T....Wissinger B. (2004)
    10. Genetic etiology and clinical consequences of complet e and incomplete achromatopsia. (PubMed id 19592100)1, 9 Thiadens A.A....Klaver C.C. (2009)

    External Searches for GNAT2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GNAT2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2780 HGNC: 4394 AceView: GNAT2 Ensembl:ENSG00000134183 euGenes: HUgn2780
    ECgene: GNAT2 Kegg: 2780 H-InvDB: GNAT2

    Other Databases showing GNAT2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GNAT2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GNAT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNAT2

    Intellectual Property
    for GNAT2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GNAT2 gene:
    Search GeneIP for patents involving GNAT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for GNAT2 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for GNAT2   OriGene shRNA RFP for GNAT2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GNAT2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GNAT2  
     OriGene Protein Over-expression Lysate for GNAT2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for GNAT2   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GNAT2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GNAT2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for GNAT2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GNAT2   OriGene Custom Protein Services for GNAT2  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GNAT2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GNAT2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNAT2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GNAT2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNAT2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GNAT2
     GenScript Custom Purified and Recombinant Proteins Services for GNAT2 GenScript cDNA clones with any tag delivered in your preferred vector for GNAT2
     GenScript Custom Assay Services for GNAT2 GenScript Custom Superior Antibodies Services for GNAT2
     GenScript Custom overexpressing Cell Line Services for GNAT2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in GNAT2 promoter
     Search Chromatin IP Primers for GNAT2
     RT2 qPCR Primer Assay in human, mouse, rat GNAT2
     Search GNC Networks for GNAT2
     SABiosciences PCR Arrays including human, mouse, rat GNAT2
     Tocris compounds for GNAT2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     GNAT2 antibodies
     GNAT2 proteins
     GNAT2 lysates
     Search for Antibodies for GNAT2 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for GNAT2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for GNAT2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAT2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for GNAT2
     SwitchGear Promoter luciferase reporter plasmids for GNAT2
     ThermoFisher Antibodies for GNAT2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAT2
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      GNAT2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4