AK2

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2. [provided by RefSeq, Nov 2010]

Description

Adenylate kinase 2

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (33007940 - 33080996)

Ensembl ID

ENSG00000004455  (ver. 103.38)

Orthologs

Mouse Ak2: ENSMUSG00000028792

UniProt

P54819

neXtProt

NX_P54819

Human splice variants
Mouse splice variants

Protein structure