Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
204
Gene name Gene Name - the full gene name approved by the HGNC.
Adenylate kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AK2
Synonyms (NCBI Gene) Gene synonyms aliases
ADK2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p35.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004017 Function Adenylate kinase activity EXP 6182143
GO:0004017 Function Adenylate kinase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32814053
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
103020 362 ENSG00000004455
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Congenital neutropenia Congenital neutropenia rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475
View all (30 more)
Deafness Prelingual Deafness, Deafness, Acquired, Deaf Mutism rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
19043416
Reticular dysgenesis Reticular dysgenesis rs387906581, rs137853206, rs1192619329, rs1553151177, rs777503956, rs267606643, rs267606645, rs267606648, rs267606646, rs267606647, rs559947967, rs1553150995, rs1569646997, rs1243124080 19043417, 28331055, 19043416
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media ClinVar
Associations from Text Mining
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