Human Gene ARHGEF12 (uc021qrm.1) Description and Page Index
  Description: Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 2, mRNA.
RefSeq Summary (NM_001198665): Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].
Transcript (Including UTRs)
   Position: hg19 chr11:120,207,618-120,319,068 Size: 111,451 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr11:120,207,953-120,319,066 Size: 111,114 Coding Exon Count: 19 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:120,207,618-120,319,068)mRNA (may differ from genome)Protein (563 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedStanford SOURCE
TreefamWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ARHGEF12
CDC HuGE Published Literature: ARHGEF12
Positive Disease Associations: glucose insulin
Related Studies:
  1. glucose insulin
    Kovacs, P. et al. 2006, A Functional Tyr1306Cys Variant in LARG Is Associated With Increased Insulin Action in Vivo, Diabetes 2006 55(5) 1497-503. [PubMed 16644711]

-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGEF12
Diseases sorted by gene-association score: leukemia, acute myeloid* (19), shwachman-diamond syndrome (13), acalculous cholecystitis (6), giant axonal neuropathy (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           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: 30.58 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 869.30 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 -117.30335-0.350 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.

-  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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BX648515 - Homo sapiens mRNA; cDNA DKFZp686O2372 (from clone DKFZp686O2372).
AK304316 - Homo sapiens cDNA FLJ60405 partial cds, highly similar to Rho guanine nucleotide exchange factor 12.
LF213950 - JP 2014500723-A/21453: Polycomb-Associated Non-Coding RNAs.
LF384540 - JP 2014500723-A/192043: Polycomb-Associated Non-Coding RNAs.
LP895814 - Sequence 678 from Patent EP3253886.
BC152900 - Synthetic construct Homo sapiens clone IMAGE:100016177, MGC:184137 Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12) mRNA, encodes complete protein.
AF180681 - Homo sapiens guanine nucleotide exchange factor (LARG) mRNA, complete cds.
AB527392 - Synthetic construct DNA, clone: pF1KA0382, Homo sapiens ARHGEF12 gene for Rho guanine nucleotide exchange factor (GEF) 12, without stop codon, in Flexi system.
BX647785 - Homo sapiens mRNA; cDNA DKFZp686O2486 (from clone DKFZp686O2486).
AK294803 - Homo sapiens cDNA FLJ51627 complete cds, highly similar to Rho guanine nucleotide exchange factor 12.
AB002380 - Homo sapiens KIAA0382 mRNA for KIAA0382 protein.
MA449527 - JP 2018138019-A/21453: Polycomb-Associated Non-Coding RNAs.
MA620117 - JP 2018138019-A/192043: Polycomb-Associated Non-Coding RNAs.
BC063117 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12, mRNA (cDNA clone IMAGE:30353240), partial cds.
AL137456 - Homo sapiens mRNA; cDNA DKFZp564O0772 (from clone DKFZp564O0772).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04270 - Vascular smooth muscle contraction
hsa04360 - Axon guidance
hsa04810 - Regulation of actin cytoskeleton

-  Other Names for This Gene
  Alternate Gene Symbols: BC063117, NM_001198665, NP_001185594
UCSC ID: uc021qrm.1
RefSeq Accession: NM_001198665

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC063117.1
exon count: 19CDS single in 3' UTR: no RNA size: 2057
ORF size: 1689CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 3350.00frame shift in genome: no % Coverage: 98.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 11# 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.