PRKAB2
protein kinase AMP-activated non-catalytic subunit beta 2
Summary
The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1439387336 | 1:146,631,181 | T/C | — | uncertain significance |
| rs149396746 | 1:146,634,101 | C/T | — | uncertain significance |
| rs2525672369 | 1:146,634,150 | G/C | — | uncertain significance |
| rs149485361 | 1:146,637,048 | G/C | intron variant | — |
| rs1553913719 | 1:146,638,082 | C/A | — | uncertain significance |
| rs782809221 | 1:146,638,115 | T/C | — | uncertain significance |
| rs1308932871 | 1:146,639,376 | T/C | — | uncertain significance |
| rs782619139 | 1:146,643,641 | G/C | — | uncertain significance |
| rs587635949 | 1:146,643,642 | C/A | — | uncertain significance |
| rs782386477 | 1:146,643,658 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.