Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADK
Synonyms (NCBI Gene) Gene synonyms aliases
AK
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.2|10q11-q24
Summary Summary of gene provided in NCBI Entrez Gene.
This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs397514452 C>A,T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs397514454 G>A Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
rs786205458 T>A Likely-pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs1589286482 ->G Likely-pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1589387419 C>T Likely-pathogenic 3 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051111 hsa-miR-16-5p CLASH 23622248
MIRT330977 hsa-miR-5571-5p HITS-CLIP 23824327
MIRT671687 hsa-miR-939-3p HITS-CLIP 23824327
MIRT671686 hsa-miR-6852-5p HITS-CLIP 23824327
MIRT671685 hsa-miR-6742-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0004001 Function Adenosine kinase activity IBA
GO:0004001 Function Adenosine kinase activity IEA
GO:0004001 Function Adenosine kinase activity TAS 9070863
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
102750 257 ENSG00000156110
Protein
UniProt ID P55263
Protein name Adenosine kinase (AK) (EC 2.7.1.20) (Adenosine 5'-phosphotransferase)
Protein function Catalyzes the phosphorylation of the purine nucleoside adenosine at the 5' position in an ATP-dependent manner. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. {ECO:0000269|PubM
PDB 1BX4 , 2I6A , 2I6B , 4O1L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00294 PfkB 42 360 pfkB family carbohydrate kinase Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest level in placenta, liver, muscle and kidney. {ECO:0000269|PubMed:9070863}.
Sequence
Sequence length 362
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Metabolic pathways
Nucleotide metabolism
  Purine salvage
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Hypospadias Hypospadias N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 22092111
Brain Injuries Traumatic Associate 26040919
Brain Neoplasms Associate 22092111
Choriocarcinoma Associate 6683274
Drug Related Side Effects and Adverse Reactions Associate 19186174, 30927276
Encephalitis Associate 24128682, 31353670
Epilepsy Associate 22092111, 24128682, 26329539, 29126171, 34479194
Glioma Associate 26329539
Gliosis Associate 24128682
Malocclusion Angle Class II Associate 25865538