Human Gene GNA12 (uc003smu.3)
  Description: Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr7:2,767,741-2,883,959 Size: 116,219 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr7:2,770,815-2,883,795 Size: 112,981 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:2,767,741-2,883,959)mRNA (may differ from genome)Protein (381 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GNA12_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein subunit alpha-12; Short=G alpha-12; Short=G-protein subunit alpha-12;
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.
SUBUNIT: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with UBXD5.
SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
SIMILARITY: Belongs to the G-alpha family. G(12) subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GNA12
CDC HuGE Published Literature: GNA12
Positive Disease Associations: Aorta , Body Height , Cholesterol , Cholesterol, HDL , Colitis, Ulcerative , height
Related Studies:
  1. Aorta
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  2. Body Height
    Nicole Soranzo et al. PLoS genetics 2009, Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size., PLoS genetics. [PubMed 19343178]
  3. Body Height
    Yukinori Okada et al. Human molecular genetics 2010, A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci., Human molecular genetics. [PubMed 20189936]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GNA12
Diseases sorted by gene-association score: familial hyperaldosteronism (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C006780 bisphenol A
  • C049325 1,2-dithiol-3-thione
  • C404910 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C028451 3,4,3',4'-tetrachlorobiphenyl
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.77 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 749.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -102.90164-0.627 Picture PostScript Text
3' UTR -1091.403074-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000469 - Gprotein_alpha12
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00503 - G-protein alpha subunit

SCOP Domains:
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q03113
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031752 D5 dopamine receptor binding
GO:0046872 metal ion binding

Biological Process:
GO:0001701 in utero embryonic development
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007266 Rho protein signal transduction
GO:0007596 blood coagulation
GO:0008360 regulation of cell shape
GO:0010762 regulation of fibroblast migration
GO:0030154 cell differentiation
GO:0030168 platelet activation
GO:0032006 regulation of TOR signaling
GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0035556 intracellular signal transduction
GO:0042493 response to drug
GO:0042733 embryonic digit morphogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016328 lateral plasma membrane
GO:0031526 brush border membrane


-  Descriptions from all associated GenBank mRNAs
  BC111464 - Homo sapiens guanine nucleotide binding protein (G protein) alpha 12, mRNA (cDNA clone MGC:104623 IMAGE:5264798), complete cds.
BC087537 - Homo sapiens guanine nucleotide binding protein (G protein) alpha 12, mRNA (cDNA clone MGC:99644 IMAGE:6208783), complete cds.
AK295830 - Homo sapiens cDNA FLJ55846 complete cds, highly similar to Guanine nucleotide-binding protein alpha-12 subunit.
AF493901 - Homo sapiens guanine nucleotide binding protein alpha 12 (GNA12) mRNA, complete cds.
L01694 - Homo sapiens (clone 58N-1) Ga subunit mRNA, complete cds.
AB463060 - Synthetic construct DNA, clone: pF1KB3987, Homo sapiens GNA12 gene for guanine nucleotide binding protein (G protein) alpha 12, without stop codon, in Flexi system.
AK024696 - Homo sapiens cDNA: FLJ21043 fis, clone CAE11633.
JD487657 - Sequence 468681 from Patent EP1572962.
AK025582 - Homo sapiens cDNA: FLJ21929 fis, clone HEP04272.
AL512719 - Homo sapiens mRNA; cDNA DKFZp547G142 (from clone DKFZp547G142).
BC063396 - Homo sapiens cDNA clone IMAGE:5180285, partial cds.
BC007400 - Homo sapiens guanine nucleotide binding protein (G protein) alpha 12, mRNA (cDNA clone IMAGE:3837892), partial cds.
BC009457 - Homo sapiens guanine nucleotide binding protein (G protein) alpha 12, mRNA (cDNA clone IMAGE:3536596).
AK024834 - Homo sapiens cDNA: FLJ21181 fis, clone CAS11503.
AK025894 - Homo sapiens cDNA: FLJ22241 fis, clone HRC02524.
AK127842 - Homo sapiens cDNA FLJ45945 fis, clone PLACE7006498, highly similar to Guanine nucleotide-binding protein alpha-12 subunit.
AK128701 - Homo sapiens cDNA FLJ46868 fis, clone UTERU3012414, highly similar to Guanine nucleotide-binding protein, alpha-12 subunit.
JD202588 - Sequence 183612 from Patent EP1572962.
JD534023 - Sequence 515047 from Patent EP1572962.
JD398481 - Sequence 379505 from Patent EP1572962.
JD163991 - Sequence 145015 from Patent EP1572962.
JD326590 - Sequence 307614 from Patent EP1572962.
JD404788 - Sequence 385812 from Patent EP1572962.
JD350506 - Sequence 331530 from Patent EP1572962.
JD263373 - Sequence 244397 from Patent EP1572962.
KJ901457 - Synthetic construct Homo sapiens clone ccsbBroadEn_10851 GNA12 gene, encodes complete protein.
JD295384 - Sequence 276408 from Patent EP1572962.
JD480790 - Sequence 461814 from Patent EP1572962.
JD539212 - Sequence 520236 from Patent EP1572962.
JD369494 - Sequence 350518 from Patent EP1572962.
JD457845 - Sequence 438869 from Patent EP1572962.
JD335919 - Sequence 316943 from Patent EP1572962.
JD543077 - Sequence 524101 from Patent EP1572962.
JD549327 - Sequence 530351 from Patent EP1572962.
JD251065 - Sequence 232089 from Patent EP1572962.
JD357805 - Sequence 338829 from Patent EP1572962.
AK122830 - Homo sapiens cDNA FLJ16438 fis, clone BRAMY2019643, highly similar to GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12 SUBUNIT.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04270 - Vascular smooth muscle contraction
hsa04730 - Long-term depression
hsa04810 - Regulation of actin cytoskeleton

BioCarta from NCI Cancer Genome Anatomy Project
h_Par1Pathway - Thrombin signaling and protease-activated receptors
h_myosinPathway - PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase
h_akap13Pathway - Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation

Reactome (by CSHL, EBI, and GO)

Protein Q03113 (Reactome details) participates in the following event(s):

R-HSA-398184 LARG activation by G alpha 12/13
R-HSA-418574 G alpha (12/13) auto-inactivates by hydrolysing GTP to GDP
R-HSA-397891 Dissociation of the PAR:G12/13 complex
R-HSA-751019 The Ligand:GPCR:G12/13 complex dissociates
R-HSA-751039 Inactive G alpha (12/13) reassociates with G beta:gamma
R-HSA-398185 LARG binds plexin B1
R-HSA-396941 Thrombin-activated PAR binds G-protein G12/13
R-HSA-751027 Liganded G12/13-activating GPCRs bind inactive heterotrimeric G-protein G12/13
R-HSA-114552 G12/13 activation by PAR
R-HSA-751029 Liganded G12/13-activating GPCR acts as a GEF for G12/13
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-388396 GPCR downstream signalling
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-372790 Signaling by GPCR
R-HSA-109582 Hemostasis
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A4D204, GNA12_HUMAN, NM_007353, NP_031379, Q03113, Q2T9L1, Q86UM8, Q8TD71, Q9UDU9
UCSC ID: uc003smu.3
RefSeq Accession: NM_007353
Protein: Q03113 (aka GNA12_HUMAN or GB12_HUMAN)
CCDS: CCDS5335.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_007353.2
exon count: 4CDS single in 3' UTR: no RNA size: 4398
ORF size: 1146CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2144.00frame shift in genome: no % Coverage: 99.68
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.