Alt. symbols: ADK2

Approved name: adenylate kinase 2
Alt. names: adenylate kinase 2, mitochondrial | ATPAMP transphosphorylase 2 | ATP:AMP phosphotransferase | adenylate kinase isoenzyme 2, mitochondrial | adenylate monophosphate kinase | testis secretory spermbinding protein Li 220n

Location: 1p35.1: 33007986 - 33080996 (-)
Gene type: protein_coding, 24 transcripts.

Scores: LoFtool: 0.555000 | pLI: 0.00556559 | LOEUF: 1.223

HGNC: 362

NCBI: 204, RefSeq: NG_016269.1

Ensembl: ENSG00000004455.18

LRG_133 | Status: public

OMIM: 103020

Expression | ProteinAtlas

AK2 encodes Adenylate kinase-2, which catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Based on the human phenotypes described below, this enzyme activity is considered to play a key role in hematopoiesis.

Biallelic AK2 mutations are associated with autosomal recessive reticular dysgenesis [MIM: 267500], a form of T-B- severe combined immunodeficiency (SCID) characterized by the absence of granulocytes and almost complete absence of peripheral blood lymphocytes, thymic hypoplasia and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions. Thus, affected infants often succumb to fatal septicemia in early postnatal life, but successful bone marrow transplant ation has been reported. The mechanism is considered to involve a defect of energy metabolism that leads to failure of hematopoietic differentiation along multiple lineages. AK2 is also expressed in the stria vascularis region of the inner ear, which explains the extra-immune finding of sensorineural deafness in affected individuals. [Load More]