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GNA12 G protein subunit alpha 12 [ Homo sapiens (human) ]

Gene ID: 2768, updated on 9-Dec-2018

Summary

Official Symbol
GNA12provided by HGNC
Official Full Name
G protein subunit alpha 12provided by HGNC
Primary source
HGNC:HGNC:4380
See related
Ensembl:ENSG00000146535 MIM:604394
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
RMP; gep; NNX3
Expression
Ubiquitous expression in placenta (RPKM 20.5), ovary (RPKM 16.5) and 25 other tissues See more
Orthologs

Genomic context

See GNA12 in Genome Data Viewer
Location:
7p22.3-p22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (2728105..2870656, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2767739..2883963, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene IQ motif containing E Neighboring gene uncharacterized LOC107986760 Neighboring gene tweety family member 3 Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene prefoldin subunit 4 pseudogene Neighboring gene uncharacterized LOC101927256 Neighboring gene caspase recruitment domain family member 11 Neighboring gene uncharacterized LOC107986761

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
NHGRI GWA Catalog
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
    Endothelins, organism-specific biosystem
    Endothelins
  • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
    G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
  • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystem (from WikiPathways)
    Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystemHuman thyroid stimulating hormone (TSH) is a glycoprotein hormone secreted from the anterior pituitary lobe, which plays an important physiological role in regulation of the hypothalamus-pituitary-th...
  • LPA receptor mediated events, organism-specific biosystem (from Pathway Interaction Database)
    LPA receptor mediated events, organism-specific biosystem
    LPA receptor mediated events
  • Long-term depression, organism-specific biosystem (from KEGG)
    Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • Long-term depression, conserved biosystem (from KEGG)
    Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
    Phospholipase D signaling pathway, organism-specific biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Phospholipase D signaling pathway, conserved biosystem (from KEGG)
    Phospholipase D signaling pathway, conserved biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • S1P2 pathway, organism-specific biosystem (from Pathway Interaction Database)
    S1P2 pathway, organism-specific biosystem
    S1P2 pathway
  • S1P3 pathway, organism-specific biosystem (from Pathway Interaction Database)
    S1P3 pathway, organism-specific biosystem
    S1P3 pathway
  • S1P4 pathway, organism-specific biosystem (from Pathway Interaction Database)
    S1P4 pathway, organism-specific biosystem
    S1P4 pathway
  • S1P5 pathway, organism-specific biosystem (from Pathway Interaction Database)
    S1P5 pathway, organism-specific biosystem
    S1P5 pathway
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Sphingolipid signaling pathway, organism-specific biosystem (from KEGG)
    Sphingolipid signaling pathway, organism-specific biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
  • Sphingolipid signaling pathway, conserved biosystem (from KEGG)
    Sphingolipid signaling pathway, conserved biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
  • Sphingosine 1-phosphate (S1P) pathway, organism-specific biosystem (from Pathway Interaction Database)
    Sphingosine 1-phosphate (S1P) pathway, organism-specific biosystem
    Sphingosine 1-phosphate (S1P) pathway
  • Thrombin signalling through proteinase activated receptors (PARs), organism-specific biosystem (from REACTOME)
    Thrombin signalling through proteinase activated receptors (PARs), organism-specific biosystemThrombin activates proteinase activated receptors (PARs) that signal through heterotrimeric G proteins of the G12/13 and Gq families, thereby connecting to a host of intracellular signaling pathways....
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC99644, MGC104623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
D5 dopamine receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
regulation of fibroblast migration ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
brush border membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
guanine nucleotide-binding protein subunit alpha-12
Names
WUGSC:H_GS165O14.2
g alpha-12
guanine nucleotide binding protein (G protein) alpha 12

NCBI Reference Sequences (RefSeq)

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_001282440.1NP_001269369.1  guanine nucleotide-binding protein subunit alpha-12 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compare to isoform 1.
    Source sequence(s)
    AC006028, AK128701
    Consensus CDS
    CCDS64583.1
    UniProtKB/TrEMBL
    E9PC54, Q6ZQV4
    Related
    ENSP00000386054.1, ENST00000407653.1
    Conserved Domains (2) summary
    cd00066
    Location:101299
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:101303
    G_alpha; G protein alpha subunit
  2. NM_001282441.1NP_001269370.1  guanine nucleotide-binding protein subunit alpha-12 isoform 3

    See identical proteins and their annotated locations for NP_001269370.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compare to isoform 1.
    Source sequence(s)
    AC006028, AK127842
    Consensus CDS
    CCDS64584.1
    UniProtKB/Swiss-Prot
    Q03113
    Related
    ENSP00000385935.3, ENST00000407904.7
    Conserved Domains (2) summary
    cd00066
    Location:45316
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:45320
    G_alpha; G protein alpha subunit
  3. NM_001293092.1NP_001280021.1  guanine nucleotide-binding protein subunit alpha-12 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 4) is shorter than isoform 1.
    Source sequence(s)
    AI381970, AK127842, AK295830, BC111464, CA446135
    UniProtKB/Swiss-Prot
    Q03113
    Conserved Domains (2) summary
    cd00066
    Location:58358
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:42362
    G_alpha; G protein alpha subunit
  4. NM_007353.3NP_031379.2  guanine nucleotide-binding protein subunit alpha-12 isoform 1

    See identical proteins and their annotated locations for NP_031379.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI381970, AK127842, AK128701, BI553022, BM557907, CA446135
    Consensus CDS
    CCDS5335.1
    UniProtKB/Swiss-Prot
    Q03113
    UniProtKB/TrEMBL
    Q6ZQV4
    Related
    ENSP00000275364.3, ENST00000275364.7
    Conserved Domains (1) summary
    smart00275
    Location:42379
    G_alpha; G protein alpha subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    2728105..2870656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515288.3XP_011513590.1  guanine nucleotide-binding protein subunit alpha-12 isoform X1

    Conserved Domains (2) summary
    cd00066
    Location:6278
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:6282
    G_alpha; G protein alpha subunit
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