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Aliases for GNA12 Gene

Aliases for GNA12 Gene

  • G Protein Subunit Alpha 12 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein) Alpha 12 2 3
  • G Alpha-12 3 4
  • Guanine Nucleotide-Binding Protein Subunit Alpha-12 3
  • G-Protein Subunit Alpha-12 4
  • WUGSC:H_GS165O14.2 3
  • NNX3 3
  • RMP 3
  • Gep 3

External Ids for GNA12 Gene

Previous GeneCards Identifiers for GNA12 Gene

  • GC07M002415
  • GC07M002515
  • GC07M002512
  • GC07M002540
  • GC07M002734
  • GC07M002767
  • GC07M002686

Summaries for GNA12 Gene

GeneCards Summary for GNA12 Gene

GNA12 (G Protein Subunit Alpha 12) is a Protein Coding gene. Diseases associated with GNA12 include Familial Hyperaldosteronism. Among its related pathways are Akt Signaling and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNA13.

UniProtKB/Swiss-Prot for GNA12 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:22609986, PubMed:15525651, PubMed:15240885, PubMed:17565996, PubMed:12515866, PubMed:16787920, PubMed:16705036, PubMed:23762476, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866, PubMed:16202387). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating proinflammatory cytokine production (PubMed:23762476, PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920). Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986).

Tocris Summary for GNA12 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 GNA12 Gene

Additional gene information for GNA12 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNA12 Gene

Genomics for GNA12 Gene

GeneHancer (GH) Regulatory Elements for GNA12 Gene

Promoters and enhancers for GNA12 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
GH07J002841 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 675 +26.9 26937 4.6 HDGF PKNOX1 ATF1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 GNA12 EIF3B BRAT1 LOC100131264
GH07J002870 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 650.7 0.0 -16 1.3 MAZ BATF ZNF623 ZNF217 CTBP1 TARDBP IKZF1 CREB1 GNA12 LOC105375132 SDK1 CARD11 GC07P002880
GH07J002756 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 29.6 +110.1 110063 8.7 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 NEUROD1 SIN3A ZNF2 IRF4 GNA12 BRAT1 CHST12 EIF3B AMZ1 LFNG TTYH3 SNX8 GC07M002729 PIR32151
GH07J002727 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 29.6 +138.8 138758 8.4 HDGF PKNOX1 CLOCK ATF1 SIN3A TCF12 ZNF766 GATA2 FOS ATF7 GNA12 BRAT1 CHST12 AMZ1 LFNG SNX8 GC07M002729 PIR32151
GH07J002818 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 28.4 +48.1 48110 8.8 PKNOX1 FOXA2 SIN3A ZNF48 YY1 ETS1 ATF7 FOS RUNX3 RXRA GNA12 BRAT1 LOC101927256 LFNG NUDT1 PIR32151 LOC100131264
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNA12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNA12 gene promoter:
  • Bach2
  • HNF-1A
  • HNF-1
  • FOXO1a
  • FOXO1
  • Zic1
  • AREB6
  • CUTL1
  • HFH-3
  • FOXI1

Genomic Locations for GNA12 Gene

Genomic Locations for GNA12 Gene
chr7:2,728,105-2,870,656
(GRCh38/hg38)
Size:
142,552 bases
Orientation:
Minus strand
chr7:2,767,739-2,883,959
(GRCh37/hg19)
Size:
116,221 bases
Orientation:
Minus strand

Genomic View for GNA12 Gene

Genes around GNA12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNA12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNA12 Gene

Proteins for GNA12 Gene

  • Protein details for GNA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03113-GNA12_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein subunit alpha-12
    Protein Accession:
    Q03113
    Secondary Accessions:
    • A4D204
    • B3KXS2
    • B7Z3F7
    • Q2T9L1
    • Q5PPR5
    • Q86UM8
    • Q8TD71
    • Q9UDU9

    Protein attributes for GNA12 Gene

    Size:
    381 amino acids
    Molecular mass:
    44279 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma (PubMed:10026210). The alpha chain contains the guanine nucleotide binding site (By similarity). Interacts with UBXD5 (PubMed:16202387). Interacts (in GTP-bound form) with PPP5C (via TPR repeats); activates PPP5C phosphatase activity and translocates PPP5C to the cell membrane. Interacts with RGS22 (PubMed:18703424). Interacts (via N-terminus) with NAPA; the interaction promotes CDH5 localization to plasma membrane (PubMed:15980433). Interacts with CTNND1 (via N-terminus); the interaction regulates CDH1-mediated cell-cell adhesion (PubMed:15240885). Interacts with PPP2R1A; the interaction promotes protein phosphatase 2A activation causing dephosphorylation of MAPT (PubMed:15525651). Interacts (in GTP-bound form) with ARHGEF1 (By similarity). Interacts (in GTP-bound form) with ARHGEF11 (via RGS domain) (PubMed:10026210). Interacts (in GTP-bound form) with ARHGEF12 (via RGS domain) (PubMed:11094164).

    Alternative splice isoforms for GNA12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNA12 Gene

Post-translational modifications for GNA12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNA12 Gene

No data available for DME Specific Peptides for GNA12 Gene

Domains & Families for GNA12 Gene

Gene Families for GNA12 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q03113

UniProtKB/Swiss-Prot:

GNA12_HUMAN :
  • Belongs to the G-alpha family. G(12) subfamily.
Family:
  • Belongs to the G-alpha family. G(12) subfamily.
genes like me logo Genes that share domains with GNA12: view

Function for GNA12 Gene

Molecular function for GNA12 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:22609986, PubMed:15525651, PubMed:15240885, PubMed:17565996, PubMed:12515866, PubMed:16787920, PubMed:16705036, PubMed:23762476, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866, PubMed:16202387). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating proinflammatory cytokine production (PubMed:23762476, PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920). Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986).

Phenotypes From GWAS Catalog for GNA12 Gene

Gene Ontology (GO) - Molecular Function for GNA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA,IEA --
GO:0003924 GTPase activity TAS,IEA --
GO:0004871 obsolete signal transducer activity IEA --
GO:0005515 protein binding IPI 10026210
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with GNA12: view
genes like me logo Genes that share phenotypes with GNA12: view

Animal Models for GNA12 Gene

MGI Knock Outs for GNA12:

Animal Model Products

  • Taconic Biosciences Mouse Models for GNA12

Clone Products

  • Addgene plasmids for GNA12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GNA12 Gene

Localization for GNA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNA12 Gene

Cell membrane; Lipid-anchor. Lateral cell membrane; Lipid-anchor. Cytoplasm. Note=CDH1 enhances cell membrane localization. {ECO:0000269 PubMed:15240885}.

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 GNA12 gene
Compartment Confidence
plasma membrane 5
cytosol 4
mitochondrion 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GNA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion HDA 21423176
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GNA12: view

Pathways & Interactions for GNA12 Gene

genes like me logo Genes that share pathways with GNA12: view

SIGNOR curated interactions for GNA12 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with GNA12: view

Drugs & Compounds for GNA12 Gene

(3) Drugs for GNA12 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 GNA12 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNA12 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 GNA12: view

Transcripts for GNA12 Gene

Unigene Clusters for GNA12 Gene

Guanine nucleotide binding protein (G protein) alpha 12:
Representative Sequences:

Clone Products

  • Addgene plasmids for GNA12

Alternative Splicing Database (ASD) splice patterns (SP) for GNA12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e
SP1: - - - - - - -
SP2: - - - - - - - - - -
SP3: - -
SP4: - - - - - - - -
SP5: - - -
SP6: - -
SP7:
SP8: -

Relevant External Links for GNA12 Gene

GeneLoc Exon Structure for
GNA12
ECgene alternative splicing isoforms for
GNA12

Expression for GNA12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNA12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNA12 Gene

This gene is overexpressed in Brain (28.8), Pancreas (12.9), and Bone (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNA12 Gene



NURSA nuclear receptor signaling pathways regulating expression of GNA12 Gene:

GNA12

SOURCE GeneReport for Unigene cluster for GNA12 Gene:

Hs.487341

Evidence on tissue expression from TISSUES for GNA12 Gene

  • Nervous system(4.8)
  • Pancreas(4.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with GNA12: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNA12 Gene

Orthologs for GNA12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNA12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNA12 34 33
  • 99.56 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNA12 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNA12 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNA12 34 33
  • 91.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GNA12 34 33
  • 90.54 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gna12 16 34 33
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Gna12 33
  • 89.89 (n)
chicken
(Gallus gallus)
Aves GNA12 34 33
  • 80.75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNA12 34
  • 92 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gna12a 34 33
  • 79.09 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG40005 34
  • 54 (a)
ManyToMany
cta 34 35
  • 43 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gpa-12 34 35 33
  • 53.49 (n)
OneToMany
gpa-14 35
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToMany
Cin.3611 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3611 33
Species where no ortholog for GNA12 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GNA12 Gene

ENSEMBL:
Gene Tree for GNA12 (if available)
TreeFam:
Gene Tree for GNA12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNA12: view image

Paralogs for GNA12 Gene

Paralogs for GNA12 Gene

(19) SIMAP similar genes for GNA12 Gene using alignment to 7 proteins:

  • GNA12_HUMAN
  • B3KXS2_HUMAN
  • B7Z3F7_HUMAN
  • C9J2Y7_HUMAN
  • E7EUG4_HUMAN
  • E9PC54_HUMAN
  • Q5PPR5_HUMAN
genes like me logo Genes that share paralogs with GNA12: view

Variants for GNA12 Gene

Sequence variations from dbSNP and Humsavar for GNA12 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000020775 -- 2,785,718(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000034868 -- 2,847,574(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000036162 -- 2,863,707(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000044845 -- 2,844,593(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000052206 -- 2,741,217(-) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GNA12 Gene

Variant ID Type Subtype PubMed ID
esv2761071 CNV loss 21179565
esv3541054 CNV deletion 23714750
esv3611852 CNV loss 21293372
esv3611853 CNV loss 21293372
esv3611854 CNV loss 21293372
esv3891011 CNV gain 25118596
nsv1074476 CNV deletion 25765185
nsv471227 CNV loss 18288195
nsv605872 CNV loss 21841781
nsv966746 CNV duplication 23825009

Variation tolerance for GNA12 Gene

Residual Variation Intolerance Score: 54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNA12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNA12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNA12 Gene

Disorders for GNA12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GNA12 Gene - From: GeneCards

Disorder Aliases PubMed IDs
familial hyperaldosteronism
  • fh
- elite association - COSMIC cancer census association via MalaCards
Search GNA12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GNA12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GNA12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNA12 Gene

Publications for GNA12 Gene

  1. Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus. (PMID: 15221642) Iida A … Nakamura Y (Journal of human genetics 2004) 3 22 44 58
  2. Expression cDNA cloning of a transforming gene encoding the wild-type G alpha 12 gene product. (PMID: 8423800) Chan AM … Aaronson SA (Molecular and cellular biology 1993) 2 3 4 58
  3. Gα₁₂ drives invasion of oral squamous cell carcinoma through up-regulation of proinflammatory cytokines. (PMID: 23762476) Jian SL … Juang JL (PloS one 2013) 3 4 58
  4. PRR5L degradation promotes mTORC2-mediated PKC-δ phosphorylation and cell migration downstream of Gα12. (PMID: 22609986) Gan X … Wu D (Nature cell biology 2012) 3 4 58
  5. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PMID: 21297633) Anderson CA … Rioux JD (Nature genetics 2011) 3 44 58

Products for GNA12 Gene

Sources for GNA12 Gene

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