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GNGT2 Gene

protein-coding   GIFtS: 57
GCID: GC17M047283

Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing...

  See GNGT2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing
Activity Polypeptide 21 2
     G-GAMMA-82
G Gamma-C2 3     G-GAMMA-C2
Guanine Nucleotide Binding Protein Gamma Transducing Activity Polypeptide
22 3
     G Protein Cone Gamma 8 Subunit2
G-gamma-92 3     Gamma-T2 Subunit2
GNG82 3     Guanine Nucleotide Binding Protein Gamma 92
GNG92 3     Guanine Nucleotide-Binding Protein G(I)/G(S)/G(O) Subunit Gamma-T22
GNGT82 3     G-gamma-83

External Ids:    HGNC: 44121   Entrez Gene: 27932   Ensembl: ENSG000001670837   OMIM: 1393915   UniProtKB: O146103   

Export aliases for GNGT2 gene to outside databases

Previous GC identifers: GC17M046994 GC17M049763 GC17M047626 GC17M047758 GC17M044638 GC17M042649


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GNGT2 Gene:
Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein
is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and
localized specifically in cones. Several transcript variants encoding the same protein have been found for this
gene. (provided by RefSeq, Nov 2010)

GeneCards Summary for GNGT2 Gene:
GNGT2 (guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2) is a protein-coding gene. Diseases associated with GNGT2 include cll/sll. GO annotations related to this gene include GTPase activity and signal transducer activity. An important paralog of this gene is GNGT1.

UniProtKB/Swiss-Prot: GBGT2_HUMAN, O14610
Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
of GDP by GTP, and for G protein-effector interaction

summary for GNGT2 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; in addition, some
Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and
Gbetagamma coupled to M1 receptors can activate KIR channels.

Gene Wiki entry for GNGT2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNGT2 gene promoter:
         Ik-2   GATA-3   Nkx2-2   Pax-2   Lmo2   Pax-2a   Nkx2-5   Pax-4a   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNGT2 promoter sequence
   Search Chromatin IP Primers for GNGT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNGT2


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21

GNGT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNGT2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M047283:  view genomic region     (about GC identifiers)

Start:
47,280,153 bp from pter      End:
47,287,936 bp from pter
Size:
7,784 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GBGT2_HUMAN, O14610 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 precursor  
Size: 69 amino acids; 7747 Da
Subunit: G proteins are composed of 3 units, alpha, beta and gamma
Secondary accessions: B2R746 D3DTW5

Explore the universe of human proteins at neXtProt for GNGT2: NX_O14610

Explore proteomics data for GNGT2 at MOPED


See GNGT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_001185683.1  NP_001185684.1  NP_001185685.1  NP_113686.1  

ENSEMBL proteins: 
 ENSP00000420946   ENSP00000426022   ENSP00000300406   ENSP00000423924   ENSP00000421710  
 ENSP00000422879  
Reactome Protein details: O14610

GNGT2 Human Recombinant Protein Products:

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Browse Proteins at Cloud-Clone Corp.

 
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antibodies-online proteins for GNGT2 (2 products) 

 
antibodies-online peptides for GNGT2

GNGT2 Antibody Products:

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antibodies-online antibodies for GNGT2 (9 products) 

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antibodies-online kits for GNGT2 (4 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR001770 Gprotein-gamma
 IPR015898 G-protein_gamma-like_dom

Graphical View of Domain Structure for InterPro Entry O14610

ProtoNet protein and cluster: O14610

1 Blocks protein domain: IPB001770 Gamma G-protein (transducin) signature

UniProtKB/Swiss-Prot: GBGT2_HUMAN, O14610
Similarity: Belongs to the G protein gamma family


Find genes that share domains with GNGT2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: GBGT2_HUMAN, O14610
Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
of GDP by GTP, and for G protein-effector interaction

     Genatlas biochemistry entry for GNGT2:
guanine nucleotide binding protein (G protein) gamma subunit,retinal cone phosphoreceptor specific

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003924GTPase activity NAS9286705
GO:0004871signal transducer activity NAS9286705
     
Find genes that share ontologies with GNGT2           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for GNGT2

miRNA
Products:
    
miRTarBase miRNAs that target GNGT2:
hsa-mir-335-5p (MIRT018854)

Block miRNA regulation of human, mouse, rat GNGT2 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate GNGT2:
hsa-miR-2110 hsa-miR-3126-5p
SwitchGear 3'UTR luciferase reporter plasmidGNGT2 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for GNGT2
Predesigned siRNA for gene silencing in human, mouse, rat GNGT2

Gene Editing
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GenScript: all cDNA clones in your preferred vector (see all 4): GNGT2 (NM_001198754)
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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNGT2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
GBGT2_HUMAN, O14610: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
plasma membrane5
cytosol3
nucleus2

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----
GO:0005834heterotrimeric G-protein complex NAS9286705
GO:0005886plasma membrane TAS--

Find genes that share ontologies with GNGT2           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for GNGT2 About   (see all 56)  
See pathways by source

SuperPathSelected contained pathways About (see all per SuperPath)
1ADP signalling through P2Y purinoceptor 12
G-protein beta-gamma signalling0.90
G-protein activation0.74
G beta-gamma signalling through PI3Kgamma0.90
Thrombin signalling through proteinase activated receptors (PARs)0.69
Signal amplification0.79
Activation of Kainate Receptors upon glutamate binding0.68
ADP signalling through P2Y purinoceptor 10.79
Inhibition of Insulin Secretion by Adrenaline/Noradrenaline0.64
2fMLP Pathway
fMLP Pathway0.43
Alpha-Adrenergic Signaling0.38
Signal transduction Activation of PKC via G Protein coupled receptor0.42
Huntington's Disease Pathway0.30
3EphB-EphrinB Signaling
EphB-EphrinB Signaling0.58
Cytoskeleton remodeling Reverse signaling by ephrin B0.34
Ephrin-Eph Signaling0.58
4Regulation of Water Balance by Renal Aquaporins
Regulation of Water Balance by Renal Aquaporins0.85
Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
Aquaporin-mediated transport0.85
5Ca-dependent events
Opioid Signalling0.54
Signal transduction Calcium signaling0.35


Find genes that share SuperPaths with GNGT2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNGT2 (see all 47)
    Molecular Mechanisms of Cancer
Intracellular Calcium Signaling
CDK5 Pathway
JNK Pathway
ERK5 Signaling

Selected GeneGo (Thomson Reuters) Pathways for GNGT2 (see all 34)
    Signal transduction cAMP signaling
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
G-protein signaling G-Protein alpha-i signaling cascades
Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
Signal transduction Activation of PKC via G-Protein coupled receptor

2 BioSystems Pathways for GNGT2
    G Protein Signaling Pathways
Visual signal transduction- Cones

Selected Reactome Pathways for GNGT2 (see all 21)
    G alpha (12/13) signalling events
G alpha (z) signalling events
G-protein activation
Ca2+ pathway
Thromboxane signalling through TP receptor


Selected Kegg Pathways  (Kegg details for GNGT2) (see all 12):
    Ras signaling pathway
Chemokine signaling pathway
PI3K-Akt signaling pathway
Circadian entrainment
Retrograde endocannabinoid signaling

    Pathway & Disease-focused RT2 Profiler PCR Array including GNGT2: 
          Alzheimer's Disease in human mouse rat

Interactions:

    GeneGlobe Interaction Network for GNGT2

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

Selected Interacting proteins for GNGT2 (O146103 ENSP000003004064) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
InteractantInteraction Details
GeneCardExternal ID(s)
KCNJ4P480503, ENSP000003064974I2D: score=2 STRING: ENSP00000306497
GNB1P628733, ENSP000003678724I2D: score=1 STRING: ENSP00000367872
GNB4Q9HAV03, ENSP000002325644I2D: score=1 STRING: ENSP00000232564
GNB2P628793, ENSP000003052604I2D: score=1 STRING: ENSP00000305260
GNA15ENSP000002629584STRING: ENSP00000262958
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Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006184GTP catabolic process NAS9286705
GO:0007186G-protein coupled receptor signaling pathway NAS9286705
GO:0007268synaptic transmission TAS--
GO:0007602phototransduction NAS9286705

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for GNGT2 available from Tocris Bioscience    About this table
CompoundAction CAS #
GalleinInhibitor of betagamma signaling[2103-64-2]
Suramin hexasodium saltNon-selective P2 antagonist[129-46-4]
G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG[51116-01-9]
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

3 HMDB Compounds for GNGT2    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--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for GNGT2 gene (4 alternative transcripts): 
NM_001198754.1  NM_001198755.1  NM_001198756.1  NM_031498.2  

Unigene Cluster for GNGT2:

Guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2
Hs.181781  [show with all ESTs]
Unigene Representative Sequence: BM560838
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000503070 ENST00000511277(uc002ioo.2 uc021tzo.1 uc021tzp.1 uc021tzq.1)
ENST00000300406 ENST00000515635 ENST00000507680 ENST00000511673
miRNA
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2 qRT-PCR Assays for microRNAs that regulate GNGT2:
hsa-miR-2110 hsa-miR-3126-5p
SwitchGear 3'UTR luciferase reporter plasmidGNGT2 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for GNGT2
Predesigned siRNA for gene silencing in human, mouse, rat GNGT2
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GenScript: all cDNA clones in your preferred vector (see all 4): GNGT2 (NM_001198754)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNGT2
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for GNGT2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GNGT2
  QuantiTect SYBR Green Assays in human, mouse, rat GNGT2
  QuantiFast Probe-based Assays in human, mouse, rat GNGT2

Additional mRNA sequence: 

AF365870.1 AF493876.1 AK312839.1 BC008663.1 

5 DOTS entries:

DT.310647  DT.100736579  DT.100670638  DT.120991973  DT.99999470 

Selected AceView cDNA sequences (see all 31):

BC008663 AA827682 AW406640 AF493876 BM727966 BP431367 AA826124 AI986049 
AA937384 AA919048 AA826126 BU933059 BE618270 BM799620 BX106556 BM723861 
AI857683 BU934040 BG166602 BU742490 NM_031498 H29895 BX491014 CB565923 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for GNGT2    About this scheme

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1:        -     -     -     -                                             
SP2:                    -     -                                             
SP3:                          -                                             
SP4:                                                                        
SP5:                                                                        


ECgene alternative splicing isoforms for GNGT2

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GNGT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAGCCCTGCC
GNGT2 Expression
About this image


GNGT2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Eye (Sensory Organs)    fully expand to see all 5 entries
         Mature S Cone Cells Outer Nuclear Layer
 
 Neurons
         Mature S Cone Cells Outer Nuclear Layer
 
 Heart (Cardiovascular System)
         Endocardial Tube Cells Endocardium
GNGT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GNGT2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.181781

UniProtKB/Swiss-Prot: GBGT2_HUMAN, O14610
Tissue specificity: Retinal cones

    Pathway & Disease-focused RT2 Profiler PCR Array including GNGT2: 
          Alzheimer's Disease in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for GNGT2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GNGT2
QuantiTect SYBR Green Assays in human, mouse, rat GNGT2
QuantiFast Probe-based Assays in human, mouse, rat GNGT2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNGT2

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for GNGT2 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gngt21 , 5 guanine nucleotide binding protein (G protein), gamma more1, 5 85.02(n)1
82.61(a)1
  11 (59.01 cM)5
147101  NM_001038664.21  NP_001033753.21 
 958372165 
chicken
(Gallus gallus)
Aves LOC1008591791 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit more 74.4(n)
73.91(a)
  100859179  XM_003642789.2  XP_003642837.1 
lizard
(Anolis carolinensis)
Reptilia GNGT26
guanine nucleotide binding protein (G protein), ga...
72(a)
1 ↔ 1
6(76181008-76195890)
tropical clawed frog
(Xenopus tropicalis)
Amphibia gngt2.11 guanine nucleotide binding protein (G protein), gamma more 68.6(n)
71.01(a)
  100329130  NM_001171621.1  NP_001165092.1 
zebrafish
(Danio rerio)
Actinopterygii gngt22 guanine nucleotide binding protein (G protein), gamma more 72.97(n)   335655  BC059612.1 


ENSEMBL Gene Tree for GNGT2 (if available)
TreeFam Gene Tree for GNGT2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GNGT2 gene
GNGT12  GNG112  
10 SIMAP similar genes for GNGT2 using alignment to 2 protein entries:     GBGT2_HUMAN (see all proteins):
GNG11    GNGT1    GNG12    GNG7    GNG4    GNG2
GNG3    GNG8    GNG5    GNG10

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for GNGT2 (see all 136)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs353854581,2
C--47289312(+) TTTTTT/-GACGG 1 -- us2k11Minor allele frequency- -:0.00NA 2
rs1438749021,2
C--48297153(+) TCTGCA/GGCTCT 4 -- ds50010--------
rs1899133821,2
--48297159(+) GCTCTC/TTCAGT 4 -- ds50010--------
rs1815611331,2
--48297220(+) CCCAGG/TCCTTA 4 -- ds50010--------
rs1847358161,2
--48297284(+) GCTTCC/TTATTG 4 -- ds50010--------
rs47936111,2
C,F,A,H--48297385(+) TCCAGC/ACCCCA 4 -- ds500110Minor allele frequency- A:0.32NS EA NA WA 782
rs47936121,2
C,F,H--48297536(+) CTAAAT/CTCCAT 4 -- ds50018Minor allele frequency- C:0.01NS EA NA 990
rs556342671,2
C--48297852(+) GACTGC/TCCTCT 4 -- ut313Minor allele frequency- T:0.23NA EA 242
rs1456854991,2
C--48297915(+) CGCTCA/GGCCAG 4 -- ut310--------
rs1477525141,2
C--48297947(+) CCCAGC/GAAGGT 4 -- ut310--------

HapMap Linkage Disequilibrium report for GNGT2 (47280153 - 47287936 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for GNGT2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv2074CNV Insertion18451855

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing GNGT2
DNA2.0 Custom Variant and Variant Library Synthesis for GNGT2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 139391    OMIM disorders: --

1 disease for GNGT2:    
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cll/sll

1 disease from the University of Copenhagen DISEASES database for GNGT2:
CLL/SLL

Find genes that share disorders with GNGT2           About GenesLikeMe


Export disorders for GNGT2 gene to outside databases

(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)
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PubMed articles for GNGT2 gene, integrated from 10 sources (see all 21):
(articles sorted by number of sources associating them with GNGT2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2). (PubMed id 9286705)1, 2, 3, 9 Ong O.C.... Fung B.K.-K. (Genomics 1997)
  2. 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. (Genome Res. 2004)
  3. Identification of a region in G protein gamma subunits conserved across species but hypervariable among subunit isoforms. (PubMed id 11714923)1, 2 Cook L.A....Hildebrandt J.D. (Protein Sci. 2001)
  4. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
  5. beta-Arrestin1 interacts with the G-protein subunits beta1gamma2 and promotes beta1gamma2-dependent Akt signalling for NF-kappaB activation. (PubMed id 18729826)1 Yang M....Ye R.D. (Biochem. J. 2009)
  6. Gbeta3 forms distinct dimers with specific Ggamma subunits and preferentially activates the beta3 isoform of phospholipase C. (PubMed id 19168127)1 Poon L.S....Wong Y.H. (Cell. Signal. 2009)
  7. Role of molecular chaperones in G protein beta5/regulator of G protein signaling dimer assembly and G protein betagamma dimer specificity. (PubMed id 19376773)1 Howlett A.C....Willardson B.M. (J. Biol. Chem. 2009)
  8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  9. Evidence for association of GABA(B) receptors with Kir3 channels and regulators of G protein signalling (RGS4) proteins. (PubMed id 17185339)1 Fowler C.E....Slesinger P.A. (J. Physiol. (Lond.) 2007)
  10. The molecular basis for T-type Ca2+ channel inhibition by G protein beta2gamma2 subunits. (PubMed id 16973746)1 DePuy S.D....Barrett P.Q. (Proc. Natl. Acad. Sci. U.S.A. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2793 HGNC: 4412 AceView: GNGT2 Ensembl:ENSG00000167083 euGenes: HUgn2793
ECgene: GNGT2 Kegg: 2793 H-InvDB: GNGT2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for GNGT2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for GNGT2 gene:
Search GeneIP for patents involving GNGT2

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



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