Contents

PRKAB2

Protein-coding gene in the species Homo sapiens

PRKAB2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2F15, 2V8Q, 2V92, 2V9J, 2Y8L, 2Y8Q, 2YA3, 4CFH, 4EAI, 4EAJ, 4RER, 4REW
Identifiers
Aliases	PRKAB2, protein kinase AMP-activated non-catalytic subunit beta 2
External IDs	OMIM: 602741; MGI: 1336185; HomoloGene: 38046; GeneCards: PRKAB2; OMA:PRKAB2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.1 Start 147,155,106 bp[1] End 147,172,550 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.2 Start 97,565,509 bp[2] End 97,581,128 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa biceps brachii Skeletal muscle tissue of rectus abdominis Skeletal muscle tissue of biceps brachii gastrocnemius muscle body of tongue saphenous vein muscle of thigh buccal mucosa cell tibial arteries Top expressed in epithelium of lens knee joint medial head of gastrocnemius muscle quadriceps femoris muscle facial motor nucleus muscle of thigh triceps brachii muscle ascending aorta tibialis anterior muscle vastus lateralis muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function AMP-activated protein kinase activity protein binding identical protein binding protein kinase binding Cellular component cytosol nucleoplasm nucleotide-activated protein kinase complex nucleus cytoplasm Biological process lipid metabolism regulation of fatty acid biosynthetic process fatty acid metabolic process fatty acid biosynthetic process macroautophagy protein phosphorylation signal transduction regulation of catalytic activity positive regulation of cold-induced thermogenesis carnitine shuttle regulation of macroautophagy regulation of signal transduction by p53 class mediator Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5565 108097 Ensembl ENSG00000131791 ENSMUSG00000038205 UniProt O43741 Q6PAM0 RefSeq (mRNA) NM_005399 NM_182997 RefSeq (protein) NP_005390 NP_892042 Location (UCSC) Chr 1: 147.16 – 147.17 Mb Chr 3: 97.57 – 97.58 Mb PubMed search [3] [4]
Wikidata
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5'-AMP-activated protein kinase subunit beta-2 is an enzyme that in humans is encoded by the PRKAB2 gene.^[5][6]

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.^[6]

• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome

PRKAB2 has been shown to interact with PRKAG2^[7] and PRKAG1.^[7]

Research on the genes CHD1L and PRKAB2 within lymphoblast cells^[8] lead to the conclusion that anomalies appear with the 1q21.1 deletion syndrome:

• CHD1L is an enzyme which is involved in untangling the chromatids and the DNA repair system. With 1q21.1 deletion syndrome a disturbance occurs, which leads to increased DNA breaks. The role of CHD1L is similar to that of helicase with the Werner syndrome
• PRKAB2 is involved in maintaining the energy level of cells. With 1q21.1-deletion syndrome this function was attenuated.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.