Aliases for GNGT2 Gene
Aliases for GNGT2 Gene
External Ids for GNGT2 Gene
- HGNC: 4412
- Entrez Gene: 2793
- Ensembl: ENSG00000167083
- OMIM: 139391
- UniProtKB: O14610
Previous GeneCards Identifiers for GNGT2 Gene
- GC17M046994
- GC17M049763
- GC17M047626
- GC17M047758
- GC17M044638
- GC17M047283
- GC17M042649
Summaries 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. Among its related pathways are Presynaptic function of Kainate receptors and G-protein signaling G-Protein alpha-i signaling cascades. 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 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.
-
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'.
Additional gene information for GNGT2 Gene
- Monarch Initiative
- Search for GNGT2 at DataMed
- Search for GNGT2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
- Top Transcription factor binding sites by QIAGEN in the GNGT2 gene promoter:
-
- Lmo2
- Nkx2-5
- Pax-2a
- Pax-2
- GATA-3
- Nkx2-2
- Ik-2
- GATA-2
- Pax-4a
Regulatory Element Products
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:
-
- 17q21.32 by Entrez Gene
- 17q21 by HGNC
- 17q21.32 by Ensembl
GNGT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GNGT2 Gene
Proteins for GNGT2 Gene
-
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
- 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.
Protein Expression for GNGT2 Gene
Post-translational modifications for GNGT2 Gene
No Post-translational modifications
Other Protein References for GNGT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for GNGT2
- Novus Biologicals Antibodies for GNGT2
- Invitrogen Antibodies for GNGT2 (AFLGC-GNGT2)
- GeneTex GNGT2 Antibody for GNGT2
-
Boster Bio Antibodies for GNGT2
Protein Products
-
OriGene Purified Proteins for GNGT2
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- Compare Top GNGT2 Proteins
-
Quality Products:
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-
Abcam proteins for GNGT2
Assay Products
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
Protein Domains for GNGT2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for GNGT2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O14610- Family:
-
- Belongs to the G protein gamma family.
Function for GNGT2 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003924 | GTPase activity | NAS | 9286705 |
| GO:0004871 | obsolete signal transducer activity | NAS | -- |
Phenotypes for GNGT2 Gene
- GenomeRNAi human phenotypes for GNGT2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for GNGT2
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- Applied Biological Materials CRISPR for GNGT2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNGT2
- GenScript: Design CRISPR guide RNA sequences for GNGT2
miRNA for GNGT2 Gene
- miRTarBase miRNAs that target GNGT2
miRNA Products
Inhibitory RNA Products
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Clone Products
-
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 3 |
| nucleus | 2 |
| extracellular | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNGT2 Gene
Pathways & Interactions for GNGT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Development Angiotensin activation of ERK | ||
| 2 | G-Beta Gamma Signaling |
.46
.44
|
.37
|
| 3 | ADP signalling through P2Y purinoceptor 12 | ||
| 4 | Circadian entrainment | ||
| 5 | Presynaptic function of Kainate receptors | ||
Pathways by source for GNGT2 Gene
2 BioSystems pathways for GNGT2 Gene
54 Reactome pathways for GNGT2 Gene
16 KEGG pathways for GNGT2 Gene
34 GeneGo (Thomson Reuters) pathways for GNGT2 Gene
Interacting Proteins for GNGT2 Gene
GPS-Prot Interaction Network for GNGT2
| 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 |
No data available for SIGNOR curated interactions for GNGT2 Gene
Drugs & Compounds for GNGT2 Gene
| 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 |
Drug Products
Transcripts for GNGT2 Gene
mRNA/cDNA for GNGT2 Gene
- (4) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (31) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000503070 522 bps (uc060gzx.1)
- ENST00000511277 918 bps (uc021tzo.2)
- ENST00000300406 889 bps (uc002ioo.3)
- ENST00000515635 783 bps (uc060gzy.1)
- ENST00000507680 585 bps (uc021tzq.2)
Unigene Clusters for GNGT2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GNGT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GNGT2
- genomics-online: gRNA clones - Search results for available GNGT2 gene related products
- Applied Biological Materials CRISPR for GNGT2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNGT2
- GenScript: Design CRISPR guide RNA sequences for GNGT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GNGT2
- Browse OriGene Inhibitory RNA Products For GNGT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNGT2
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Clone Products
-
OriGene ORF clones in human for GNGT2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for GNGT2
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- genomics-online: cdna clones - Search results for available GNGT2 gene related products
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- Applied Biological Materials Clones for GNGT2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||
| SP5: |
Expression for GNGT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
- Mature S Cone Cells Outer Nuclear Layer
- Mature L Cone Cells Outer Nuclear Layer
- Mature M Cone Cells Outer Nuclear Layer
- Mature M-S Cone Cells Outer Nuclear Layer
-
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
- Mature S Cone Cells Outer Nuclear Layer
- Mature L Cone Cells Outer Nuclear Layer
- Mature M Cone Cells Outer Nuclear Layer
- Mature M-S Cone Cells Outer Nuclear Layer
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
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).
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
NURSA nuclear receptor signaling pathways regulating expression of GNGT2 Gene:
GNGT2SOURCE GeneReport for Unigene cluster for GNGT2 Gene:
Hs.181781mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for GNGT2
- genomics-online: primer clones - Search results for available GNGT2 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GNGT2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GNGT2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GNGT2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gngt2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gngt2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GNGT2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LOC100859179 33 |
|
||
| GNGT2 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | GNGT2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gngt2.1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gngt2a 34 33 |
|
OneToMany | |
| gngt2b 34 |
|
OneToMany | |||
| gngt2 33 |
|
- 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
Variants for GNGT2 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000077593 | -- | 49,211,711(-) | C/A | upstream_transcript_variant | |
| rs1000722379 | -- | 49,205,748(-) | G/A | downstream_transcript_variant | |
| rs1001008774 | -- | 49,207,126(-) | C/A/T | intron_variant | |
| rs1001395315 | -- | 49,208,863(-) | C/T | 5_prime_UTR_variant | |
| rs1001609271 | -- | 49,211,141(-) | G/A | upstream_transcript_variant |
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
Additional Disease Information for GNGT2
No disorders were found for GNGT2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GNGT2 Gene
Publications for GNGT2 Gene
- 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 22 58
- 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 58
- 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 58
- SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 58
- Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles RA … Easton DF (Nature genetics 2013) 3 58
Products for GNGT2 Gene
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Sources for GNGT2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
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