AK2
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_001625.2,NM_013411.3 Gene Symbol AK2
Protein Name Adenylate kinase 2
Alternate Names ADK2
Gene Locus 1p34

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
- 00047 103020 204 204 2C9Y
362 ENSG00000004455 P54819 AK2

Disease name Characteristic / Associated features Category inheritance type
Reticular dysgenesis; Adenylate kinase 2 deficiency Congenital agranulocytosis; Leukopenia; Lymphopenia; Absent bone marrow myeloid elements; Lymphoid hypoplasia; Abnormality of the thymus; Absent cellular immunity; Absent humoral immunity; Decreased T cells; granulocytopenia; deafness; T cell deficiency; B cell deficiency; NK cell deficiency Combined T-cell and B-cell immunodeficiencies Autosomal recessive