GNGT2 Gene (Protein Coding)

G Protein Subunit Gamma Transducin 2

GC17M049202
GIFtS:
40
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] See more...

Aliases for GNGT2 Gene

Aliases for GNGT2 Gene

  • G Protein Subunit Gamma Transducin 2 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing Activity Polypeptide 2 2 3
  • Guanine Nucleotide Binding Protein Gamma Transducing Activity Polypeptide 2 3 4
  • Guanine Nucleotide-Binding Protein G(I)/G(S)/G(O) Subunit Gamma-T2 3 4
  • G Gamma-C 3 4
  • G-Gamma-9 3 4
  • GNGT8 3 4
  • GNG8 3 4
  • GNG9 3 4
  • Guanine Nucleotide Binding Protein Gamma 9 3
  • G Protein Cone Gamma 8 Subunit 3
  • Gamma-T2 Subunit 3
  • G-GAMMA-8 3
  • G-GAMMA-C 3
  • G-Gamma-8 4

External Ids for GNGT2 Gene

Previous GeneCards Identifiers for GNGT2 Gene

  • GC17M046994
  • GC17M049763
  • GC17M047626
  • GC17M047758
  • GC17M044638
  • GC17M047283
  • GC17M042649

Summaries for GNGT2 Gene

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 (G Protein Subunit Gamma Transducin 2) is a Protein Coding gene. Diseases associated with GNGT2 include Night Blindness, Congenital Stationary, Autosomal Dominant 2 and Retinitis Pigmentosa 17. Among its related pathways are Signaling by GPCR and ADP signalling through P2Y purinoceptor 1. Gene Ontology (GO) annotations related to this gene include GTPase activity and obsolete signal transducer activity. An important paralog of this gene is GNG11.

UniProtKB/Swiss-Prot Summary for GNGT2 Gene

  • 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.

Tocris 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 binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNGT2 Gene

Additional gene information for GNGT2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNGT2 Gene

Genomics for GNGT2 Gene

GeneHancer (GH) Regulatory Elements for GNGT2 Gene

Promoters and enhancers for GNGT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNGT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNGT2

Top Transcription factor binding sites by QIAGEN in the GNGT2 gene promoter:
  • GATA-2
  • GATA-3
  • Ik-2
  • Lmo2
  • Nkx2-2
  • Nkx2-5
  • Pax-2
  • Pax-2a
  • Pax-4a

Genomic Locations for GNGT2 Gene

Genomic Locations for GNGT2 Gene
chr17:49,202,791-49,210,574
(GRCh38/hg38)
Size:
7,784 bases
Orientation:
Minus strand
chr17:47,280,153-47,287,936
(GRCh37/hg19)
Size:
7,784 bases
Orientation:
Minus strand

Genomic View for GNGT2 Gene

Genes around GNGT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNGT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNGT2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GNGT2 Gene

Proteins for GNGT2 Gene

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  • Protein details for GNGT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14610-GBGT2_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
    Protein Accession:
    O14610
    Secondary Accessions:
    • B2R746
    • D3DTW5

    Protein attributes for GNGT2 Gene

    Size:
    69 amino acids
    Molecular mass:
    7747 Da
    Quaternary structure:
    • G proteins are composed of 3 units, alpha, beta and gamma.

neXtProt entry for GNGT2 Gene

Protein Expression for GNGT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GNGT2 Gene

No Post-translational modifications

Other Protein References for GNGT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNGT2 Gene

Domains & Families for GNGT2 Gene

Gene Families for GNGT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for GNGT2 Gene

Blocks:
  • Gamma G-protein (transducin) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GNGT2 Gene

GenScript: Design optimal peptide antigens:
  • Guanine nucleotide binding protein gamma transducing activity polypeptide 2 (GBGT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14610

UniProtKB/Swiss-Prot:

GBGT2_HUMAN :
  • Belongs to the G protein gamma family.
Family:
  • Belongs to the G protein gamma family.
genes like me logo Genes that share domains with GNGT2: view

Function for GNGT2 Gene

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Molecular function for GNGT2 Gene

UniProtKB/Swiss-Prot 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:
guanine nucleotide binding protein (G protein) gamma subunit,retinal cone phosphoreceptor specific

Phenotypes From GWAS Catalog for GNGT2 Gene

Gene Ontology (GO) - Molecular Function for GNGT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity NAS 9286705
GO:0031681 G-protein beta-subunit binding IBA 21873635
genes like me logo Genes that share ontologies with GNGT2: view
genes like me logo Genes that share phenotypes with GNGT2: view

Animal Model Products

CRISPR Products

miRNA for GNGT2 Gene

miRTarBase miRNAs that target GNGT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNGT2

Clone Products

  • Addgene plasmids for GNGT2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GNGT2 Gene

Localization for GNGT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNGT2 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

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 GNGT2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GNGT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005834 heterotrimeric G-protein complex NAS 9286705
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031680 G-protein beta/gamma-subunit complex IBA 21873635
genes like me logo Genes that share ontologies with GNGT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNGT2 Gene

Pathways & Interactions for GNGT2 Gene

PathCards logo

SuperPathways for GNGT2 Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
Development G-Proteins mediated regulation MARK-ERK signaling
.65
Development EDNRB signaling
.54
Development EPO-induced MAPK pathway
.48
Cell adhesion Integrin inside-out signaling
.45
Signal transduction IP3 signaling
.40
2 G-Beta Gamma Signaling
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
Signaling in Gap Junctions
.30
3 ADP signalling through P2Y purinoceptor 12
ADP signalling through P2Y purinoceptor 12
.73
G-protein activation
.73
Adrenaline,noradrenaline inhibits insulin secretion
.59
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
.57
G alpha (z) signalling events
.45
Signal transduction cAMP signaling
.43
4 Presynaptic function of Kainate receptors
Activation of Kainate Receptors upon glutamate binding
.66
Presynaptic function of Kainate receptors
.66
Glucagon-type ligand receptors
.50
Class B/2 (Secretin family receptors)
.32
G beta-gamma signalling through PLC beta
.01
5 ADP signalling through P2Y purinoceptor 1
ADP signalling through P2Y purinoceptor 1
.78
Thromboxane signalling through TP receptor
.78
Signal amplification
.76
Thrombin signalling through proteinase activated receptors (PARs)
.67
Development Angiotensin signaling via beta-Arrestin
.39
genes like me logo Genes that share pathways with GNGT2: view

Pathways by source for GNGT2 Gene

34 GeneGo (Thomson Reuters) pathways for GNGT2 Gene
  • Apoptosis and survival BAD phosphorylation
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
47 Qiagen pathways for GNGT2 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR

Gene Ontology (GO) - Biological Process for GNGT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway NAS 9286705
GO:0007602 phototransduction NAS 9286705
genes like me logo Genes that share ontologies with GNGT2: view

No data available for SIGNOR curated interactions for GNGT2 Gene

Drugs & Compounds for GNGT2 Gene

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  1. Drug

(3) Drugs for GNGT2 Gene - From: HMDB

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 GNGT2 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 GNGT2 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 GNGT2: view

Transcripts for GNGT2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GNGT2 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNGT2

Clone Products

  • Addgene plasmids for GNGT2

Alternative Splicing Database (ASD) splice patterns (SP) for GNGT2 Gene

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

Relevant External Links for GNGT2 Gene

GeneLoc Exon Structure for
GNGT2

Expression for GNGT2 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNGT2 Gene

mRNA expression in normal human tissues for GNGT2 Gene
mRNA expression by BioGPS for GNGT2 GenemRNA expression by GTEx for GNGT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNGT2 Gene

This gene is overexpressed in Whole Blood (x7.3) and Spleen (x5.9).

Protein differential expression in normal tissues from HIPED for GNGT2 Gene

This gene is overexpressed in Retina (66.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GNGT2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNGT2

SOURCE GeneReport for Unigene cluster for GNGT2 Gene:

Hs.181781

mRNA Expression by UniProt/SwissProt for GNGT2 Gene:

O14610-GBGT2_HUMAN
Tissue specificity: Retinal cones.

Evidence on tissue expression from TISSUES for GNGT2 Gene

  • Eye(4.3)
genes like me logo Genes that share expression patterns with GNGT2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNGT2 Gene

Orthologs for GNGT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GNGT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia GNGT2 31 30
  • 100 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia GNGT2 31 30
  • 87.92 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia GNGT2 31 30
  • 87.44 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gngt2 17 31 30
  • 85.02 (n)
rat
(Rattus norvegicus)
 Mammalia Gngt2 30
  • 84.54 (n)
oppossum
(Monodelphis domestica)
 Mammalia GNGT2 31
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC100859179 30
  • 74.4 (n)
GNGT2 31
  • 72 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia GNGT2 31
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gngt2.1 30
  • 68.6 (n)
zebrafish
(Danio rerio)
 Actinopterygii gngt2a 31 30
  • 70.05 (n)
 OneToMany
gngt2b 31
  • 55 (a)
 OneToMany
gngt2 30
Species where no ortholog for GNGT2 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GNGT2 Gene

ENSEMBL:
Gene Tree for GNGT2 (if available)
TreeFam:
Gene Tree for GNGT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNGT2: view image

Paralogs for GNGT2 Gene

Paralogs for GNGT2 Gene

(10) SIMAP similar genes for GNGT2 Gene using alignment to 2 proteins:

  • GBGT2_HUMAN
  • D6RDH5_HUMAN
genes like me logo Genes that share paralogs with GNGT2: view

Variants for GNGT2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNGT2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs9895097 - p.Leu11Phe

Additional dbSNP identifiers (rs#s) for GNGT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GNGT2 Gene

Variant ID Type Subtype PubMed ID
nsv2074 CNV insertion 18451855

Variation tolerance for GNGT2 Gene

Residual Variation Intolerance Score: 66.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNGT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNGT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNGT2 Gene

Disorders for GNGT2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GNGT2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search GNGT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GNGT2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GNGT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNGT2 Gene

Publications for GNGT2 Gene

  1. Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2). (PMID: 9286705) Ong OC … Fung BK (Genomics 1997) 2 3 4 23 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Identification of a region in G protein gamma subunits conserved across species but hypervariable among subunit isoforms. (PMID: 11714923) Cook LA … Hildebrandt JD (Protein science : a publication of the Protein Society 2001) 3 4 54
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 54
  5. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles RA … Easton DF (Nature genetics 2013) 3 54

ExternalLinks

View latest publications for GNGT2 gene in Mastermind

Products for GNGT2 Gene

  • Addgene plasmids for GNGT2

Sources for GNGT2 Gene