AK2
entrez
204
canonical
uniprot
P54819
canonical
ensembl
ENSG00000004455
resolver
ensp
ENSP00000362548
resolver
ensp
ENSP00000447082
resolver
ensp
ENSP00000449003
resolver
ensp
ENSP00000450109
resolver
ensp
ENSP00000499935
resolver
enst
ENST00000467905
resolver
enst
ENST00000480134
resolver
enst
ENST00000548033
resolver
genesymbol
AK2
resolver
genesymbol_syn
ADK2
resolver
hgnc
HGNC:362
resolver
uniprot
A0A140VK93
resolver
uniprot
A8K6L1
resolver
uniprot
B4DHH7
resolver
uniprot
B4DL64
resolver
uniprot
F8VY04
resolver
uniprot
F8W1A4
resolver
uniprot
G3V213
resolver
uniprot
Q16856
resolver
uniprot
Q5EB54
resolver
uniprot
Q5TIF7
resolver
uniprot
Q8TCY2
resolver
uniprot
Q8TCY3
resolver
uniprot_entry
A0A140VK93_HUMAN
resolver
uniprot_entry
F8VY04_HUMAN
resolver
uniprot_entry
F8W1A4_HUMAN
resolver
uniprot_entry
G3V213_HUMAN
resolver
uniprot_entry
KAD2_HUMAN
resolver
uniprot_sec
A8K6L1
resolver
uniprot_sec
B4DHH7
resolver
uniprot_sec
B4DL64
resolver
uniprot_sec
Q16856
resolver
uniprot_sec
Q5EB54
resolver
uniprot_sec
Q5TIF7
resolver
uniprot_sec
Q8TCY2
resolver
uniprot_sec
Q8TCY3
resolver
amino_acid_sequence
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKDDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATCKDLVMFI
uniprot
proteins
disease_involvement
DISEASE: Reticular dysgenesis (RDYS) [MIM:267500]: A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, 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 immunity, 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. Inheritance is autosomal recessive. {ECO:0000269|PubMed:19043416, ECO:0000269|PubMed:19043417}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.4.3
uniprot
proteins
function
FUNCTION: 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. Plays a key role in hematopoiesis. {ECO:0000255|HAMAP-Rule:MF_03168, ECO:0000269|PubMed:19043416}.
uniprot
proteins
mass_dalton
26478
uniprot
proteins
protein_family
AK2 subfamily
uniprot
proteins
protein_family
Adenylate kinase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19043416
uniprot
proteins
pubmed
19043417
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
8843353
uniprot
proteins
pubmed
9434148
uniprot
proteins
pubmed
9504408
uniprot
proteins
sequence_length
239
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000255|HAMAP-Rule:MF_03168}.
uniprot
proteins