Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GNG12 Gene

Aliases for GNG12 Gene

  • G Protein Subunit Gamma 12 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Gamma 12 2

External Ids for GNG12 Gene

Previous GeneCards Identifiers for GNG12 Gene

  • GC01M067098
  • GC01M067524
  • GC01M067537
  • GC01M067879
  • GC01M067939
  • GC01M068167
  • GC01M066277

Summaries for GNG12 Gene

GeneCards Summary for GNG12 Gene

GNG12 (G Protein Subunit Gamma 12) is a Protein Coding gene. Among its related pathways are Presynaptic function of Kainate receptors and Translation Translation regulation by Alpha-1 adrenergic receptors. Gene Ontology (GO) annotations related to this gene include signal transducer activity and phosphate ion binding. An important paralog of this gene is GNG7.

UniProtKB/Swiss-Prot for GNG12 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.

Tocris Summary for GNG12 Gene

  • 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'.

Gene Wiki entry for GNG12 Gene

Additional gene information for GNG12 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNG12 Gene

Genomics for GNG12 Gene

GeneHancer (GH) Regulatory Elements for GNG12 Gene

Promoters and enhancers for GNG12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I067830 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 563.3 +1.1 1145 4.9 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF213 ZNF143 SP3 ZNF610 GNG12 GNG12-AS1 RNU7-80P
GH01I067790 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 575.6 +41.0 40999 5.2 MXI1 JUN SIN3A EBF1 FOSL2 IKZF2 CEBPB REST ELF1 EP300 GNG12 RNU7-80P GNG12-AS1 DIRAS3
GH01I067887 Enhancer 1.3 FANTOM5 Ensembl ENCODE 23.2 -55.8 -55812 3.6 ATF1 INSM2 FEZF1 ZBTB40 RFX5 ZEB1 EGR1 FOS ATF7 CREM GNG12 GNG12-AS1 DIRAS3 LOC100133029
GH01I067801 Enhancer 1.1 Ensembl ENCODE dbSUPER 26.1 +30.3 30269 4.6 CTCF ZNF687 USF1 ZBTB11 MZF1 CEBPG ZEB2 DPF2 ZNF366 IKZF1 GNG12 GNG12-AS1 RNU7-80P RNU6-1031P DIRAS3
GH01I067896 Enhancer 1.1 Ensembl ENCODE 22.2 -63.9 -63925 2.1 HDAC1 PKNOX1 ZBTB40 ZNF335 TCF12 ZNF766 ZNF680 CEBPB HDAC8 ZNF592 GNG12 GNG12-AS1 LOC100133029
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GNG12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNG12 gene promoter:

Genomic Locations for GNG12 Gene

Genomic Locations for GNG12 Gene
chr1:67,701,466-67,833,779
(GRCh38/hg38)
Size:
132,314 bases
Orientation:
Minus strand
chr1:68,167,149-68,299,155
(GRCh37/hg19)

Genomic View for GNG12 Gene

Genes around GNG12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNG12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNG12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNG12 Gene

Proteins for GNG12 Gene

  • Protein details for GNG12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBI6-GBG12_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12
    Protein Accession:
    Q9UBI6
    Secondary Accessions:
    • Q69YP5
    • Q9BRV5

    Protein attributes for GNG12 Gene

    Size:
    72 amino acids
    Molecular mass:
    8006 Da
    Quaternary structure:
    • G proteins are composed of 3 units, alpha, beta and gamma.

neXtProt entry for GNG12 Gene

Post-translational modifications for GNG12 Gene

  • Ubiquitination at isoforms=34 and posLast=6464

Other Protein References for GNG12 Gene

No data available for DME Specific Peptides for GNG12 Gene

Domains & Families for GNG12 Gene

Gene Families for GNG12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GNG12 Gene

Suggested Antigen Peptide Sequences for GNG12 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBI6

UniProtKB/Swiss-Prot:

GBG12_HUMAN :
  • Belongs to the G protein gamma family.
Family:
  • Belongs to the G protein gamma family.
genes like me logo Genes that share domains with GNG12: view

Function for GNG12 Gene

Molecular function for GNG12 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.

Phenotypes From GWAS Catalog for GNG12 Gene

Gene Ontology (GO) - Molecular Function for GNG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding IPI 21988832
GO:0030165 PDZ domain binding IDA 23209302
GO:0042301 phosphate ion binding IEA --
genes like me logo Genes that share ontologies with GNG12: view
genes like me logo Genes that share phenotypes with GNG12: view

Animal Model Products

CRISPR Products

miRNA for GNG12 Gene

miRTarBase miRNAs that target GNG12

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNG12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GNG12 Gene

Localization for GNG12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNG12 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNG12 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GNG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005834 heterotrimeric G-protein complex IEA --
GO:0005884 actin filament IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with GNG12: view

Pathways & Interactions for GNG12 Gene

SuperPathways for GNG12 Gene

genes like me logo Genes that share pathways with GNG12: view

SIGNOR curated interactions for GNG12 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 10819326
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0021987 cerebral cortex development IEA --
GO:0032496 response to lipopolysaccharide IEA --
GO:0071377 cellular response to glucagon stimulus TAS --
genes like me logo Genes that share ontologies with GNG12: view

Drugs & Compounds for GNG12 Gene

(3) Drugs for GNG12 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNG12 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
G-Protein antagonist peptide
143675-79-0

(5) Tocris Compounds for GNG12 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
genes like me logo Genes that share compounds with GNG12: view

Transcripts for GNG12 Gene

Unigene Clusters for GNG12 Gene

Guanine nucleotide binding protein (G protein), gamma 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNG12

Alternative Splicing Database (ASD) splice patterns (SP) for GNG12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for GNG12 Gene

GeneLoc Exon Structure for
GNG12
ECgene alternative splicing isoforms for
GNG12

Expression for GNG12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNG12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNG12 Gene

This gene is overexpressed in Spinal cord (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNG12 Gene



Protein tissue co-expression partners for GNG12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GNG12 Gene:

GNG12

SOURCE GeneReport for Unigene cluster for GNG12 Gene:

Hs.431101

Evidence on tissue expression from TISSUES for GNG12 Gene

  • Nervous system(4.8)
  • Adrenal gland(4.3)
  • Liver(4.3)
  • Skin(3.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with GNG12: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNG12 Gene

Orthologs for GNG12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GNG12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNG12 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia GNG12 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNG12 33 34
  • 91.2 (n)
cow
(Bos Taurus)
Mammalia GNG12 33 34
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Gng12 33 16 34
  • 86.57 (n)
rat
(Rattus norvegicus)
Mammalia Gng12 33
  • 86.11 (n)
chicken
(Gallus gallus)
Aves GNG12 33 34
  • 78.24 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gng12 33
  • 79.63 (n)
zebrafish
(Danio rerio)
Actinopterygii GNG12 (2 of 2) 34
  • 78 (a)
OneToMany
LOC100331581 33
  • 72.69 (n)
gng12a 34
  • 72 (a)
OneToMany
Species where no ortholog for GNG12 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)
  • lizard (Anolis carolinensis)
  • 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 GNG12 Gene

ENSEMBL:
Gene Tree for GNG12 (if available)
TreeFam:
Gene Tree for GNG12 (if available)

Paralogs for GNG12 Gene

Paralogs for GNG12 Gene

(10) SIMAP similar genes for GNG12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GNG12: view

Variants for GNG12 Gene

Sequence variations from dbSNP and Humsavar for GNG12 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000026930 -- 67,759,739(-) T/C intron_variant
rs1000072957 -- 67,711,569(-) GAAGAAGA/GAAGA intron_variant
rs1000073412 -- 67,704,825(-) A/G 3_prime_UTR_variant
rs1000137761 -- 67,800,998(-) G/A intron_variant
rs1000148103 -- 67,782,927(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GNG12 Gene

Variant ID Type Subtype PubMed ID
esv1336934 CNV deletion 17803354
esv1542404 CNV deletion 17803354
esv3308903 CNV mobile element insertion 20981092
esv3350914 CNV duplication 20981092
esv3365929 CNV insertion 20981092
nsv1077905 CNV deletion 25765185
nsv830104 CNV gain 17160897
nsv954610 CNV deletion 24416366

Variation tolerance for GNG12 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNG12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNG12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNG12 Gene

Disorders for GNG12 Gene

Additional Disease Information for GNG12

No disorders were found for GNG12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GNG12 Gene

Publications for GNG12 Gene

  1. Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. (PMID: 10819326) Hurowitz EH … Shizuya H (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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
  4. 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
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for GNG12 Gene

  • Addgene plasmids for GNG12

Sources for GNG12 Gene

Content
Loading form....