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Aliases for GNA12 Gene

Aliases for GNA12 Gene

  • G Protein Subunit Alpha 12 2 3
  • Guanine Nucleotide Binding Protein (G Protein) Alpha 12 2 3 5
  • G-Protein Subunit Alpha-12 3 4
  • G Alpha-12 3 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 Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAS.

UniProtKB/Swiss-Prot for GNA12 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. May play a role in the control of cell migration through the TOR signaling cascade.

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

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

Genomics for GNA12 Gene

Regulatory Elements for GNA12 Gene

Genomic Location for GNA12 Gene

Chromosome:
7
Start:
2,728,105 bp from pter
End:
2,870,656 bp from pter
Size:
142,552 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. The alpha chain contains the guanine nucleotide binding site. Interacts with UBXD5. Interacts (when active) with PPP5C (via TPR repeats); activates PPP5C phosphatase activity and translocates PPP5C to the cell membrane. Interacts with RGS22.

    Alternative splice isoforms for GNA12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNA12 Gene

Proteomics data for GNA12 Gene at MOPED

Post-translational modifications for GNA12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNA12 Gene

Antibody Products

No data available for DME Specific Peptides for GNA12 Gene

Domains & Families for GNA12 Gene

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

No data available for Gene Families for GNA12 Gene

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. May play a role in the control of cell migration through the TOR signaling cascade.

Gene Ontology (GO) - Molecular Function for GNA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA,TAS --
GO:0031683 G-protein beta/gamma-subunit complex binding IEA,IBA --
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

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

Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNA12 Gene COMPARTMENTS Subcellular localization image for GNA12 gene
Compartment Confidence
plasma membrane 5
cytosol 4
mitochondrion 3
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for GNA12 Gene

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:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
GO:0007596 blood coagulation TAS 8290554
GO:0008152 metabolic process IEA --
GO:0010762 regulation of fibroblast migration ISS --
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
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
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
Mastoparan Activates Gi and Go 72093-21-1
Mastoparan X G protein activator peptide 72093-22-2
NF 023 Selective, competitive P2X1 antagonist 104869-31-0
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:

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 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, PaxDb, MOPED, and MaxQB for GNA12 Gene



SOURCE GeneReport for Unigene cluster for GNA12 Gene Hs.487341

genes like me logo Genes that share expression patterns with GNA12: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GNA12 35
  • 91.34 (n)
  • 95.01 (a)
GNA12 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNA12 35
  • 90.54 (n)
  • 97.52 (a)
GNA12 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gna12 35
  • 90.15 (n)
  • 95.78 (a)
Gna12 16
Gna12 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNA12 35
  • 99.56 (n)
  • 100 (a)
GNA12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gna12 35
  • 89.89 (n)
  • 95.51 (a)
oppossum
(Monodelphis domestica)
Mammalia GNA12 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNA12 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNA12 35
  • 80.75 (n)
  • 92.39 (a)
GNA12 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNA12 36
  • 92 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gna12a 35
  • 79.09 (n)
  • 85.83 (a)
gna12a 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cta 37
  • 53 (a)
CG40005 36
  • 54 (a)
ManyToMany
cta 36
  • 43 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gpa-12 37
  • 51 (a)
gpa-14 37
  • 31 (a)
gpa-12 35
  • 53.49 (n)
  • 52.51 (a)
gpa-12 36
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 36
  • 29 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3611 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToMany
Species with no ortholog for GNA12:
  • 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)

Paralogs for GNA12 Gene

Paralogs for GNA12 Gene

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 Sequence Context AA Info Type
VAR_049359 -
VAR_049360 -
rs11552939 - 2,843,960(-) GCGAG(A/G)GCGGC intron-variant, reference, missense
rs208338 -- 2,793,854(-) cccag(C/G)ctgga intron-variant
rs208339 -- 2,779,436(-) aactc(C/G)caggt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv471227 CNV Loss 18288195
dgv7123n71 CNV Loss 21882294

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)

Relevant External Links for GNA12 Gene

HapMap Linkage Disequilibrium report
GNA12

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

Relevant External Links for GNA12

Genetic Association Database (GAD)
GNA12
Human Genome Epidemiology (HuGE) Navigator
GNA12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNA12
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. Expression cDNA cloning of a transforming gene encoding the wild-type G alpha 12 gene product. (PMID: 8423800) Chan A.M.-L. … Aaronson S.A. (Mol. Cell. Biol. 1993) 2 3 4 67
  2. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. (PMID: 18307725) Jeske Y.W. … Stowasser M. (Clin. Exp. Pharmacol. Physiol. 2008) 3 23
  3. Neoplastic transformation by the gep oncogene, Galpha12, involves signaling by STAT3. (PMID: 16247467) Kumar R.N. … Dhanasekaran N. (Oncogene 2006) 2 3
  4. Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus. (PMID: 15221642) Iida A. … Nakamura Y. (J. Hum. Genet. 2004) 3 23
  5. RMP promotes venous metastases of hepatocellular carcinoma through promoting IL-6 transcription. (PMID: 24704835) Zhang J. … Wang H.Y. (Oncogene 2015) 3

Products for GNA12 Gene

Sources for GNA12 Gene

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