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

Gene ID: 55970, updated on 5-Mar-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
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Genomic context

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See GNG12 in Genome Data Viewer
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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