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    GNGT2 G protein subunit gamma transducin 2 [ Homo sapiens (human) ]

    Gene ID: 2793, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GNGT2provided by HGNC
    Official Full Name
    G protein subunit gamma transducin 2provided by HGNC
    Primary source
    HGNC:HGNC:4412
    See related
    Ensembl:ENSG00000167083 MIM:139391; AllianceGenome:HGNC:4412
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GNG9; HG3I; GNGT8; G-GAMMA-8; G-GAMMA-C
    Summary
    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]
    Expression
    Broad expression in spleen (RPKM 5.8), lymph node (RPKM 4.5) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNGT2 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49206234..49210574, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50069317..50073657, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47283596..47287936, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47226398-47227388 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47227389-47228379 Neighboring gene ribosomal protein S10 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47260706-47261206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12351 Neighboring gene tRNA-Gln (anticodon TTG) 1-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47275189-47275688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47287312-47287988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12357 Neighboring gene ABI family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47300636-47301544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47301545-47302452 Neighboring gene phosphoethanolamine/phosphocholine phosphatase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Comprehensive multi-omics analysis identified core molecular processes in esophageal cancer and revealed GNGT2 as a potential prognostic marker. Liu GM, et al. World J Gastroenterol, 2019 Dec 28. PMID 31908393, Free PMC Article
    2. Evolution of the human cold/menthol receptor, TRPM8. Blanquart S, et al. Mol Phylogenet Evol, 2019 Jul. PMID 30980935
    3. Identification of a region in G protein gamma subunits conserved across species but hypervariable among subunit isoforms. Cook LA, et al. Protein Sci, 2001 Dec. PMID 11714923, Free PMC Article
    4. Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2). Ong OC, et al. Genomics, 1997 Aug 15. PMID 9286705
    5. Inhibition of an inward rectifier potassium channel (Kir2.3) by G-protein betagamma subunits. Cohen NA, et al. J Biol Chem, 1996 Dec 13. PMID 8943291

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gbetagamma translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.
      Title: Gβγ translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.
    2. Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets.
      Title: Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets.
    3. Survival analysis showed that G protein subunit gamma transducin 2 (GNGT2) was closely related to survival of esophageal cancer. Expression of GNGT2 was evaluated by quantitative real time polymerase chain reaction, and the results showed that GNGT2 expression was significantly upregulated in esophageal cancer patient samples and cell lines, and that GNGT2 could promote the proliferation of esophageal cancer cell lines.
      Title: Comprehensive multi-omics analysis identified core molecular processes in esophageal cancer and revealed GNGT2 as a potential prognostic marker.
    4. Results identify novel functions of beta-arrestin1 in binding to the beta1gamma2 subunits of heterotrimeric G-proteins and promoting G(betagamma)-mediated Akt signalling for NF-kappaB activation.
      Title: beta-Arrestin1 interacts with the G-protein subunits beta1gamma2 and promotes beta1gamma2-dependent Akt signalling for NF-kappaB activation.
    5. Recombinant Gbetagamma subunits were used to establish that the Gbeta(2)gamma(2) dimer can selectively reconstitute the inhibition of alpha(1H) channels in isolated membrane patches.
      Title: The molecular basis for T-type Ca2+ channel inhibition by G protein beta2gamma2 subunits.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein beta-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in phototransduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of heterotrimeric G-protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of heterotrimeric G-protein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
    Names
    G protein cone gamma 8 subunit
    G-gamma-9
    g gamma-C
    gamma-T2 subunit
    guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2
    guanine nucleotide binding protein gamma 9
    guanine nucleotide binding protein gamma transducing activity polypeptide 2
    heterotrimeric guanine nucleotide-binding protein 3I

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009841.1 RefSeqGene

      Range
      3808..8145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198754.2 → NP_001185683.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2

      See identical proteins and their annotated locations for NP_001185683.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC069454, BU742490, DA248836
      Consensus CDS
      CCDS11545.1
      UniProtKB/Swiss-Prot
      B2R746, D3DTW5, O14610
      Related
      ENSP00000421710.1, ENST00000507680.6
      Conserved Domains (1) summary
      smart00224
      Location:8 → 69
      GGL; G protein gamma subunit-like motifs

    2. NM_001198755.1 → NP_001185684.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2

      See identical proteins and their annotated locations for NP_001185684.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC069454, AK312839, BU742490
      Consensus CDS
      CCDS11545.1
      UniProtKB/Swiss-Prot
      B2R746, D3DTW5, O14610
      Related
      ENSP00000422879.1, ENST00000511673.1
      Conserved Domains (1) summary
      smart00224
      Location:8 → 69
      GGL; G protein gamma subunit-like motifs

    3. NM_001198756.1 → NP_001185685.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2

      See identical proteins and their annotated locations for NP_001185685.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC069454, BM723861, BU742490
      Consensus CDS
      CCDS11545.1
      UniProtKB/Swiss-Prot
      B2R746, D3DTW5, O14610
      Related
      ENSP00000426022.1, ENST00000511277.5
      Conserved Domains (1) summary
      smart00224
      Location:8 → 69
      GGL; G protein gamma subunit-like motifs

    4. NM_031498.2 → NP_113686.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2

      See identical proteins and their annotated locations for NP_113686.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AI857683, BC008663, BU742490
      Consensus CDS
      CCDS11545.1
      UniProtKB/Swiss-Prot
      B2R746, D3DTW5, O14610
      Related
      ENSP00000300406.2, ENST00000300406.6
      Conserved Domains (1) summary
      smart00224
      Location:8 → 69
      GGL; G protein gamma subunit-like motifs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      49206234..49210574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      50069317..50073657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14610.1 GenPept UniProtKB/Swiss-Prot:O14610

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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