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Details of AK2 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| AK2 | ADK2 | P54819 | KAD2_HUMAN | 204 | ENSG00000004455 | Adenylate kinase 2, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Reticular dysgenesis (RDYS) [MIM:267500]: Most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. In addition, affected newborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, in which its absence can not be compensated by AK1. Note=The disease is caused by mutations affecting the gene represented in this entry. | 267500 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ak2 | Adk2 | let-754 | Sp-Ak2_1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| AK2 | TKT | 0.40666023 | AK2 | TKT |
| AK2 | NME2 | 0.106168814 | AK2 | NME2 |
| CRIP1 | AK2 | 0.188443838 | CRIP1 | AK2 |
| AK2 | GNB2L1 | 0.075330792 | AK2 | GNB2L1 |
| AK2 | FSCN1 | 0.070688132 | AK2 | FSCN1 |
| AK2 | ACAA2 | 0.073971761 | AK2 | ACAA2 |
| AK2 | NME1-NME2 | 0.112231342 | AK2 | NME1-NME2 |
| AK2 | TRAP1 | 0.08346098 | AK2 | TRAP1 |
| AK2 | MRPS7 | 0.111687138 | AK2 | MRPS7 |
| SOD1 | AK2 | 0.202272069 | SOD1 | AK2 |
| AK2 | SIGMAR1 | 0.079093093 | AK2 | SIGMAR1 |
| AK2 | DUT | 0.18498152 | AK2 | DUT |
| AK2 | AFG3L2 | 0.089028669 | AK2 | AFG3L2 |