AK2 Chromosome 1
Adenylate kinase 2
Upload your DNA to see your personal genotypes for variants in AK2.
What This Gene Does
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]
Gene Info
Gene Group
Adenylate kinases
Locus Type
gene with protein product
Location
1p35.1
Ensembl
ENSG00000004455
Associated Conditions (10)
Reticular dysgenesis
AK2-related disorder
Familial cancer of breast
Acute myeloid leukemia
Cervical cancer
Ovarian serous cystadenocarcinoma
Lung cancer
Uveal melanoma
Gastric cancer
Severe combined immunodeficiency disease
Key Variants
RS138577419
Conflicting classifications of pathogenicity
Reticular dysgenesis, AK2-related disorder, Reticular dysgenesis
Health Risk
RS148975919
Conflicting classifications of pathogenicity
Reticular dysgenesis, Familial cancer of breast, Acute myeloid leukemia
Health Risk
RS548856916
Conflicting classifications of pathogenicity
Reticular dysgenesis, AK2-related disorder, Reticular dysgenesis
Health Risk
RS61750965
Conflicting classifications of pathogenicity
Reticular dysgenesis, AK2-related disorder, Reticular dysgenesis
Health Risk
RS1243124080
Likely pathogenic
Reticular dysgenesis, Reticular dysgenesis
Health Risk
RS1375379850
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS1398317449
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS1557611080
Likely pathogenic
Health Risk
RS1570186429
Likely pathogenic
Reticular dysgenesis, Reticular dysgenesis
Health Risk
RS1638959411
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS1638975235
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS1639559794
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138577419 | Health Risk | Conflicting classifications of pathogenicity | Reticular dysgenesis, AK2-related disorder, Reticular dysgenesis |
| RS148975919 | Health Risk | Conflicting classifications of pathogenicity | Reticular dysgenesis, Familial cancer of breast, Acute myeloid leukemia |
| RS548856916 | Health Risk | Conflicting classifications of pathogenicity | Reticular dysgenesis, AK2-related disorder, Reticular dysgenesis |
| RS61750965 | Health Risk | Conflicting classifications of pathogenicity | Reticular dysgenesis, AK2-related disorder, Reticular dysgenesis |
| RS1243124080 | Health Risk | Likely pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS1375379850 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1398317449 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1557611080 | Health Risk | Likely pathogenic | — |
| RS1570186429 | Health Risk | Likely pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS1638959411 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1638975235 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1639559794 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS267606645 | Health Risk | Likely pathogenic | Reticular dysgenesis, Severe combined immunodeficiency disease, Reticular dysgenesis |
| RS746465070 | Health Risk | Likely pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS1192619329 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS137853206 | Health Risk | Pathogenic | Reticular dysgenesis, Severe combined immunodeficiency disease, Reticular dysgenesis |
| RS1476680673 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS1553150995 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS1553151177 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS1569646997 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS1640610158 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS2124279569 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS2522072280 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS267606643 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS267606646 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS267606647 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS387906581 | Health Risk | Pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS267606648 | Health Risk | Pathogenic/Likely pathogenic | Reticular dysgenesis, Severe combined immunodeficiency disease, Reticular dysgenesis |
| RS559947967 | Health Risk | Pathogenic/Likely pathogenic | Reticular dysgenesis, Reticular dysgenesis |
| RS777503956 | Health Risk | Pathogenic/Likely pathogenic | Reticular dysgenesis, Severe combined immunodeficiency disease, Reticular dysgenesis |