Human Gene AKAP12 (uc010kim.3)
  Description: Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 2, mRNA.
RefSeq Summary (NM_144497): The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr6:151,646,666-151,679,694 Size: 33,029 Total Exon Count: 2 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:151,646,666-151,679,694)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkHGNCLynx
MalacardsPubMedWikipedia

-  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): AKAP12
CDC HuGE Published Literature: AKAP12
Positive Disease Associations: Abdominal Fat , Waist-Hip Ratio
Related Studies:
  1. Abdominal Fat
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Waist-Hip Ratio
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: AKAP12
Diseases sorted by gene-association score: myasthenia gravis (56), juvenile myelomonocytic leukemia (2), colorectal cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.50 RPKM in Adipose - Visceral (Omentum)
Total median expression: 1032.16 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.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  U81607 - Homo sapiens gravin mRNA, complete cds.
AB210003 - Homo sapiens mRNA for AKAP12 variant protein, clone: fg01237.
AF001504 - Homo sapiens myasthenia gravis autoantigen gravin mRNA, partial cds.
AK307739 - Homo sapiens cDNA, FLJ97687.
BC070151 - Homo sapiens A kinase (PRKA) anchor protein 12, mRNA (cDNA clone IMAGE:6458260), partial cds.
AB003476 - Homo sapiens mRNA for gravin, complete cds.
BC117679 - Homo sapiens cDNA clone IMAGE:40070788.
BC117680 - Homo sapiens cDNA clone IMAGE:40070795, containing frame-shift errors.
BC156286 - Synthetic construct Homo sapiens clone IMAGE:100061638, MGC:190061 A kinase (PRKA) anchor protein 12 (AKAP12) mRNA, encodes complete protein.
BC157067 - Synthetic construct Homo sapiens clone IMAGE:100063310, MGC:190735 A kinase (PRKA) anchor protein 12 (AKAP12) mRNA, encodes complete protein.
AK126161 - Homo sapiens cDNA FLJ44173 fis, clone THYMU2036105.
JD343635 - Sequence 324659 from Patent EP1572962.
CR749527 - Homo sapiens mRNA; cDNA DKFZp686O0331 (from clone DKFZp686O0331).
CR936604 - Homo sapiens mRNA; cDNA DKFZp686M0430 (from clone DKFZp686M0430).
M96322 - Human gravin (a cytoplasmic antigen recognized by myasthenia gravis sera) mRNA, 3' end.
JD377897 - Sequence 358921 from Patent EP1572962.
JD382130 - Sequence 363154 from Patent EP1572962.
JD167267 - Sequence 148291 from Patent EP1572962.
JD093313 - Sequence 74337 from Patent EP1572962.
JD562747 - Sequence 543771 from Patent EP1572962.
JD306963 - Sequence 287987 from Patent EP1572962.
JD508916 - Sequence 489940 from Patent EP1572962.
AF086250 - Homo sapiens full length insert cDNA clone ZD39H03.
JD510952 - Sequence 491976 from Patent EP1572962.
JD453178 - Sequence 434202 from Patent EP1572962.
JD251390 - Sequence 232414 from Patent EP1572962.
JD404253 - Sequence 385277 from Patent EP1572962.
JD350162 - Sequence 331186 from Patent EP1572962.
JD113308 - Sequence 94332 from Patent EP1572962.
BC033829 - Homo sapiens cDNA clone IMAGE:3856003, partial cds.
AK024598 - Homo sapiens cDNA: FLJ20945 fis, clone ADSE01786.

-  Other Names for This Gene
  Alternate Gene Symbols: BC117679
UCSC ID: uc010kim.3
RefSeq Accession: NM_144497

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: BC117679.1
exon count: 2CDS single in 3' UTR: no RNA size: 563
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 272.00frame shift in genome: no % Coverage: 100.00
has start codon: no 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: 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.