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ADK (adenosine kinase)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132
Gene nameGene Name - the full gene name approved by the HGNC.
Adenosine kinase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ADK
SynonymsGene synonyms aliases
AK
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.2|10q11-q24
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0004001 Function Adenosine kinase activity IBA 21873635
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence
Sequence length 362
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Purine metabolism
Metabolic pathways
Nucleotide metabolism 		  Purine salvage
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hyperbilirubinemia Hyperbilirubinemia rs34993780, rs587784535, rs797046090, rs797046091
Hypermethioninemia HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY rs121918607, rs121918608, rs757966746, rs773162208 21963049, 26642971
Unknown
Disease name Disease term dbSNP ID References
Cardiovascular diseases Cardiovascular Diseases 30595370
Cerebral atrophy Cerebral atrophy
Fatty liver Fatty Liver, Steatohepatitis
Frontal bossing Frontal bossing

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