Gene Gene information from NCBI Gene database.
Entrez ID 204
Gene name Adenylate kinase 2
Gene symbol AK2
Synonyms (NCBI Gene)
ADK2
Chromosome 1
Chromosome location 1p35.1
Summary 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
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs61750965 C>A,T Benign, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs137853206 T>C Pathogenic 5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant
rs267606643 T>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs267606645 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs267606646 T>A Pathogenic 3 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
342
miRTarBase ID miRNA Experiments Reference
MIRT002707 hsa-miR-124-3p Microarray 15685193
MIRT002707 hsa-miR-124-3p Microarray;Other 15685193
MIRT027808 hsa-miR-98-5p Microarray 19088304
MIRT028621 hsa-miR-30a-5p Proteomics 18668040
MIRT032010 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004017 Function AMP kinase activity EXP 6182143
GO:0004017 Function AMP kinase activity IBA
GO:0004017 Function AMP kinase activity IEA
GO:0004017 Function AMP kinase activity TAS 9504408
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103020 362 ENSG00000004455
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54819
Protein name Adenylate kinase 2, mitochondrial (AK 2) (EC 2.7.4.3) (ATP-AMP transphosphorylase 2) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) [Cleaved into: Adenylate kinase 2, mitochondrial, N-terminally processed]
Protein 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 phosp
PDB 2C9Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00406 ADK 20 206 Domain
PF05191 ADK_lid 142 177 Adenylate kinase, active site lid Domain
Tissue specificity TISSUE SPECIFICITY: Present in most tissues. Present at high level in heart, liver and kidney, and at low level in brain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present in all nucleated cell pop
Sequence
Sequence length 239
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors
  Interconversion of nucleotide di- and triphosphates
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
206
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Reticular dysgenesis Likely pathogenic; Pathogenic rs746465070, rs1640610158, rs2124279569, rs1476680673, rs559947967, rs2522072280, rs387906581, rs137853206, rs1192619329, rs1553151177, rs777503956, rs267606643, rs267606645, rs267606648, rs267606646
View all (4 more)
RCV001379163
RCV002002459
RCV001883769
RCV001974730
RCV001283780
RCV003039593
RCV000019913
RCV000019914
RCV000019915
RCV000019916
RCV000019917
RCV000019918
RCV000019920
RCV000019922
RCV000019923
RCV000019924
RCV000019919
RCV000819483
RCV001037044
Severe combined immunodeficiency disease Likely pathogenic; Pathogenic rs1375379850, rs1639559794, rs1638959411, rs1638975235, rs1398317449, rs137853206, rs777503956, rs267606645, rs267606648 RCV004699311
RCV001732127
RCV001733379
RCV001825068
RCV001825069
RCV005406755
RCV001778659
RCV002281711
RCV005055518
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs148975919 RCV005899622
AK2-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs752613147, rs111261425, rs541879563, rs768207363, rs41301072, rs138577419, rs61750965, rs746330303, rs138151595, rs755736918, rs371672441, rs148421308, rs769651837, rs548856916, rs267606647 RCV004756241
RCV003940954
RCV003904349
RCV003966999
RCV003962487
RCV003942766
RCV003917972
RCV003935778
RCV003965327
RCV003424363
RCV003396389
RCV003955677
RCV003912885
RCV003958102
RCV003902923
Cervical cancer Uncertain significance; Conflicting classifications of pathogenicity rs1045885332, rs148975919 RCV005898169
RCV005899623
Familial cancer of breast Conflicting classifications of pathogenicity rs148975919 RCV005899621
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenylate Kinase Deficiency Hemolytic Anemia Due To Inhibit 26270350
Carcinoma Hepatocellular Associate 38025761
Cardiomyopathy Dilated Associate 36401332
DiGeorge Syndrome Associate 29713328
Drug Hypersensitivity Associate 38598835
Emanuel syndrome Associate 38598835
Glioma Associate 37161605
Heart Failure Associate 36401332
Hyperglycemia Inhibit 21556322
Lymphopenia Associate 26270350