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: +
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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:
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.
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No 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.