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

    Gene ID: 55970, updated on 3-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 59.3), small intestine (RPKM 55.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1p31.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (67701475..67833467, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (67578994..67710912, complement)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_018841.6NP_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:1172
      GGL; G protein gamma subunit-like motifs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047425406.1XP_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_047425415.1XP_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_017001809.3XP_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:1172
      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_054337709.1XP_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_054337710.1XP_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_054337708.1XP_054193683.1  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 isoform X1

      UniProtKB/Swiss-Prot
      Q69YP5, Q9BRV5, Q9UBI6