Aliases:This biomarker is also known as:
- A-kinase anchor protein 250 kDa,
- A-kinase anchor protein 12,
- Myasthenia gravis autoantigen,
AKAP12 is a member of the A-kinase anchor protein (AKAP) family, 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. AKAP12 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. AKAP12 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.
The following organs have data associated with this biomarker…
Esophageal adenocarcinoma risk in Barrett's esophagus is increased 30- to 125- fold versus the general population. Among all Barrett's esophagus patients neoplastic progression occurs only once per 200 patient-years. Molecular markers (individual or in panel) would be useful to risk-stratify patients for more efficient surveillance endoscopy and to improve the early detection of progression.
Promoter hypermethylation of AKAP12 occurs early during Barrett's-associated esophageal neoplastic progression. Studies investigating potential use of this protein as a biomarker are ongoing.
Supporting Study Data
The following studies/protocols provide evidence supporting AKAP12 indications for the Esophagus…
Barrett's Esophagus Methylation Profiles
We propose a nested case-control study of biomarkers in the setting of BE. By bringing together research institutions with large populations of patients with BE, we will perform a multi-center study of FISH and hypermethylation markers as possible prognostic factors in BE. The centers will select from their cohorts who have progressed to HGD or to adenocarcinoma of the esophagus ("progressors"), and who also donated samples prior to the development of cancer, when their histology was felt to be benign. These subjects will be compared to individuals who have been under endoscopic surveillance, but who have not progressed to HGD or EAC ("non-progressors"). Using this approach, we hope to identify promising markers for risk stratification in BE. We expect to be able to make successful application for a prospective study of markers identified in this case-control study.View more about this study
Biomarker Characteristics Summary
|Notes||Sensitivity||Specificity||Prevalence||NPV||PPV||Specific Assay Type|
|Assessment of the classification accuracy of a single marker using ROC curve analyses show AUC for HPP1, p16, and RUNX3 are all significantly greater than 0.50. For AKAP12, AUC (95% confidence interval) was 0.561 (0.451, 0.672).||N/A||N/A||N/A||N/A||N/A|
Additional Study-Specific Protocols
No organ-specific protocols defined.
No organ-specific publications defined.
No organ-specific resources defined.
- Can urinary PCA3 supplement PSA in the early detection of prostate cancer?
- Three-tiered risk stratification model to predict progression in Barrett's esophagus using epigenetic and clinical features.
- A genome-wide search identifies epigenetic silencing of somatostatin, tachykinin-1, and 5 other genes in colon cancer.
- Aberrant silencing of the endocrine peptide gene tachykinin-1 in gastric cancer.
- HGNC entry for AKAP12 from Genenames
- KEGG entry for AKAP12 from Genome.jp
- Entrez entry for AKAP12 all NCBI Databasese
- Human GEO Profiles for AKAP12 from NCBI GEO Profiles
- Human Geo Datasets containing term AKAP12 from NCBI GEO Datasets
- GWAS Study Datasets containing gene AKAP12 from GWAS
- Human Single Nucleotide Polymorphisms info for AKAP12
- Human Gene(s) with 'AKAP12' as Gene Name/Alias
- Human Gene RefSeq for AKAP12 from NCBI
- GeneCards entry for human AKAP12
- UniProtKB/Swiss-Prot entry for AKAP12 from Uniprot
- Human Protein RefSeq for AKAP12 from NCBI
- FDA web page describing approval of AKAP12
|UniProt Accession #:||Q02952|
|Mutated Sites Count:||434|
|Associated Pubmed ID Count||23|
|Affected Protein Function Sites Count:||5|