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AKAP12

Basics

Aliases:
This biomarker is also known as:
  • Myasthenia gravis autoantigen,
  • AKAP250,
  • Gravin,
  • A-kinase anchor protein 250 kDa,
  • A-kinase anchor protein 12,

Description…

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.

Attributes

QA State: Accepted
Type: Genomic
Short Name:
HGNC Name: AKAP12

Organs

The following organs have data associated with this biomarker…

Esophagus

Attributes

Phase: Two
QA State: Accepted

Overview

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.

Performance Comment

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…

No supporting studies or protocols found.

Organ-Specific Protocols

No organ-specific protocols defined.

Organ-Specific Publications

No organ-specific publications defined.

Organ-Specific Resources

No organ-specific resources defined.

Studies

No associated studies or protocols found.

Biomuta

Mutation Statistics

Gene Name: AKAP12
UniProt Accession #: Q02952
Mutated Sites Count: 434
Associated Pubmed ID Count 23
CancerDO Count 24
Affected Protein Function Sites Count: 5

View in BioMuta