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    GNG12 G protein subunit gamma 12 [ Homo sapiens (human) ]

    Gene ID: 55970, updated on 5-May-2024

    Summary

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    Official Symbol
    GNG12provided by HGNC
    Official Full Name
    G protein subunit gamma 12provided by HGNC
    Primary source
    HGNC:HGNC:19663
    See related
    Ensembl:ENSG00000172380 MIM:615405; AllianceGenome:HGNC:19663
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HG3A
    Summary
    Enables PDZ domain binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in duodenum (RPKM 59.3), small intestine (RPKM 55.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p31.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (67701475..67833467, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (67578994..67710912, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (68167158..68299150, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12613 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 9 Neighboring gene RNA, 7SL, cytoplasmic 392, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr1.6815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 984 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:68151855-68153054 Neighboring gene Sharpr-MPRA regulatory region 15496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:68174006-68174506 Neighboring gene Sharpr-MPRA regulatory region 6234 Neighboring gene growth arrest and DNA damage inducible alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1183 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:68211594-68212415 Neighboring gene uncharacterized LOC105378781 Neighboring gene Sharpr-MPRA regulatory region 6160 Neighboring gene RNA, U7 small nuclear 80 pseudogene Neighboring gene Sharpr-MPRA regulatory region 9183 Neighboring gene GNG12, DIRAS3 and WLS antisense RNA 1 Neighboring gene uncharacterized LOC124900403 Neighboring gene sirtuin 5 pseudogene

    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. Low GNG12 Expression Predicts Adverse Outcomes: A Potential Therapeutic Target for Osteosarcoma. Yuan J, et al. Front Immunol, 2021. PMID 34691083, Free PMC Article
    2. DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Wiklund P, et al. Clin Epigenetics, 2019 Jul 1. PMID 31262328, Free PMC Article
    3. GNG12 regulates PD-L1 expression by activating NF-κB signaling in pancreatic ductal adenocarcinoma. Li J, et al. FEBS Open Bio, 2020 Feb. PMID 31898405, Free PMC Article
    4. 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
    5. Selective association of G protein beta(4) with gamma(5) and gamma(12) subunits in bovine tissues. Asano T, et al. J Biol Chem, 1999 Jul 23. PMID 10409705

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Low GNG12 Expression Predicts Adverse Outcomes: A Potential Therapeutic Target for Osteosarcoma.
      Title: Low GNG12 Expression Predicts Adverse Outcomes: A Potential Therapeutic Target for Osteosarcoma.
    2. GNG12 regulates PD-L1 expression by activating NF-kappaB signaling in pancreatic ductal adenocarcinoma.
      Title: GNG12 regulates PD-L1 expression by activating NF-κB signaling in pancreatic ductal adenocarcinoma.
    3. Results showed some evidence of differentially methylated cg25189904 in GNG12 gene mediating the effect of exposure to maternal smoking on schizophrenia-related outcomes.
      Title: DNA methylation links prenatal smoking exposure to later life health outcomes in offspring.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Clone Names

    • FLJ31352, FLJ34695

    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 PDZ domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12
    Names
    G-protein gamma-12 subunit
    guanine nucleotide binding protein (G protein), gamma 12
    heterotrimeric guanine nucleotide-binding protein 3A

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_018841.6 → NP_061329.3  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12

      See identical proteins and their annotated locations for NP_061329.3

      Status: VALIDATED

      Source sequence(s)
      AL832431, BC013090, BP236699, BU151184, BU620098
      Consensus CDS
      CCDS30749.1
      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6
      Related
      ENSP00000360021.3, ENST00000370982.4
      Conserved Domains (1) summary
      smart00224
      Location:11 → 72
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      67701475..67833467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425406.1 → XP_047281362.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6

    2. XM_047425415.1 → XP_047281371.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6

    3. XM_017001809.3 → XP_016857298.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6
      Conserved Domains (1) summary
      smart00224
      Location:11 → 72
      GGL; G protein gamma subunit-like motifs

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      67578994..67710912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337709.1 → XP_054193684.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6

    2. XM_054337710.1 → XP_054193685.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6

    3. XM_054337708.1 → XP_054193683.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBI6.3 GenPept UniProtKB/Swiss-Prot:Q9UBI6

    Gene LinkOut

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