ADK (adenosine kinase)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 132
• Gene name: Adenosine kinase
• Gene symbol: ADK
• Synonyms (NCBI Gene): AK
• Chromosome: 10
• Chromosome location: 10q22.2|10q11-q24
• Summary: 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 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 Show/Hide all (107)

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
MIRT671684	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT671683	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT671682	hsa-miR-1976	HITS-CLIP	23824327
MIRT671681	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT671680	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT671679	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT671678	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT671677	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT671676	hsa-miR-4279	HITS-CLIP	23824327
MIRT671675	hsa-miR-592	HITS-CLIP	23824327
MIRT671674	hsa-miR-498	HITS-CLIP	23824327
MIRT645674	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT645673	hsa-miR-1245a	HITS-CLIP	23824327
MIRT645672	hsa-miR-8079	HITS-CLIP	23824327
MIRT645670	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645671	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT645669	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT645668	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT645666	hsa-miR-378g	HITS-CLIP	23824327
MIRT645667	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT645664	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT645665	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT645663	hsa-miR-4437	HITS-CLIP	23824327
MIRT645662	hsa-miR-1260a	HITS-CLIP	23824327
MIRT645661	hsa-miR-1260b	HITS-CLIP	23824327
MIRT645660	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT645659	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT645658	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT645657	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT645656	hsa-miR-4674	HITS-CLIP	23824327
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
MIRT671684	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT671683	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT671682	hsa-miR-1976	HITS-CLIP	23824327
MIRT671681	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT671680	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT671679	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT671678	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT671677	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT671676	hsa-miR-4279	HITS-CLIP	23824327
MIRT671675	hsa-miR-592	HITS-CLIP	23824327
MIRT671674	hsa-miR-498	HITS-CLIP	23824327
MIRT645674	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT645673	hsa-miR-1245a	HITS-CLIP	23824327
MIRT645672	hsa-miR-8079	HITS-CLIP	23824327
MIRT645670	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645671	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT645669	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT645668	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT645666	hsa-miR-378g	HITS-CLIP	23824327
MIRT645667	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT645664	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT645665	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT645663	hsa-miR-4437	HITS-CLIP	23824327
MIRT645662	hsa-miR-1260a	HITS-CLIP	23824327
MIRT645661	hsa-miR-1260b	HITS-CLIP	23824327
MIRT645660	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT645659	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT645658	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT645657	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT645656	hsa-miR-4674	HITS-CLIP	23824327
MIRT769179	hsa-miR-1296	CLIP-seq
MIRT769180	hsa-miR-2909	CLIP-seq
MIRT769181	hsa-miR-346	CLIP-seq
MIRT769182	hsa-miR-34a	CLIP-seq
MIRT769183	hsa-miR-34c-5p	CLIP-seq
MIRT769184	hsa-miR-4288	CLIP-seq
MIRT769185	hsa-miR-4436b-3p	CLIP-seq
MIRT769186	hsa-miR-449a	CLIP-seq
MIRT769187	hsa-miR-449b	CLIP-seq
MIRT769188	hsa-miR-4761-3p	CLIP-seq
MIRT769189	hsa-miR-495	CLIP-seq
MIRT769190	hsa-miR-632	CLIP-seq
MIRT769191	hsa-miR-873	CLIP-seq
MIRT769192	hsa-miR-885-5p	CLIP-seq
MIRT769193	hsa-miR-337-3p	CLIP-seq
MIRT769194	hsa-miR-4668-5p	CLIP-seq
MIRT2167761	hsa-miR-3657	CLIP-seq
MIRT2167762	hsa-miR-4275	CLIP-seq
MIRT2167763	hsa-miR-4669	CLIP-seq
MIRT2167764	hsa-miR-4797-5p	CLIP-seq
MIRT2167765	hsa-miR-599	CLIP-seq
MIRT2470390	hsa-miR-1283	CLIP-seq
MIRT2470391	hsa-miR-3688-3p	CLIP-seq
MIRT2470392	hsa-miR-4291	CLIP-seq
MIRT2470393	hsa-miR-4310	CLIP-seq
MIRT2470394	hsa-miR-4445	CLIP-seq
MIRT2470395	hsa-miR-4760-5p	CLIP-seq
MIRT2470396	hsa-miR-4795-3p	CLIP-seq
MIRT2470397	hsa-miR-4799-5p	CLIP-seq
MIRT2470398	hsa-miR-653	CLIP-seq
MIRT2470390	hsa-miR-1283	CLIP-seq
MIRT2470391	hsa-miR-3688-3p	CLIP-seq
MIRT2470392	hsa-miR-4291	CLIP-seq
MIRT2470393	hsa-miR-4310	CLIP-seq
MIRT2470394	hsa-miR-4445	CLIP-seq
MIRT2470395	hsa-miR-4760-5p	CLIP-seq
MIRT2470397	hsa-miR-4799-5p	CLIP-seq
MIRT2470398	hsa-miR-653	CLIP-seq

Gene ontology (GO) Show/Hide all (28)

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
GO:0004136	Function	Deoxyadenosine kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006144	Process	Purine nucleobase metabolic process	IBA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006175	Process	DATP biosynthetic process	IEA
GO:0009156	Process	Ribonucleoside monophosphate biosynthetic process	IEA
GO:0009156	Process	Ribonucleoside monophosphate biosynthetic process	TAS	9070863
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032263	Process	GMP salvage	IEA
GO:0044209	Process	AMP salvage	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0106383	Process	DAMP salvage	IEA

Other IDs

• MIM: 102750
• HGNC: 257
• e!Ensembl: 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:

  MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAED
  KHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKA
  AEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVEKAR
  VCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGN
  ETEAATFAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFA
  VLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTFPEKPD
  FH

• Sequence length: 362

Pathways

KEGG Pathway	Reactome Pathway
Purine metabolism	Purine salvage
Metabolic pathways
Nucleotide metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Adenosine kinase deficiency	Likely pathogenic; Pathogenic	rs2548024083, rs1855118837, rs397514452, rs397514453, rs397514454, rs1589286482, rs1589387419	RCV003335920 RCV003335921 RCV000022443 RCV000022444 RCV000022445 RCV000985064 RCV000988388	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADK-related disorder	Likely pathogenic; Pathogenic	rs771117099	RCV003427508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (25)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF SULFUR-BEARING AMINO ACID METABOLISM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	30177863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	35661827	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	38965376	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	25108383	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	19579223	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	21937992	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	11997462,21937992,21963049,27903722,30771478,33309011,34765398,39899686	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	35739095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

DGUOK 3 shared pathwaysPurine metabolism, Nucleotide metabolism, Purine salvage Related via 3 shared pathways including Purine metabolism, Nucleotide metabolism. GMPR 3 shared pathwaysPurine metabolism, Nucleotide metabolism, Purine salvage Related via 3 shared pathways including Purine metabolism, Nucleotide metabolism. APRT 3 shared pathwaysPurine metabolism, Nucleotide metabolism, Purine salvage Related via 3 shared pathways including Purine metabolism, Nucleotide metabolism. GMPR2 3 shared pathwaysPurine metabolism, Nucleotide metabolism, Purine salvage Related via 3 shared pathways including Purine metabolism, Nucleotide metabolism. XKR9 2 shared diseasesHypospadias, Pelvic organ prolapse 2 shared evidence sourcesGWAS catalog (Hypospadias), GWAS catalog (Pelvic organ prolapse) Related via 2 shared diseases including Hypospadias, Pelvic organ prolapse — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DGUOK	0	[]	3	["Purine metabolism","Nucleotide metabolism","Purine salvage"]	0	[]
GMPR	0	[]	3	["Purine metabolism","Nucleotide metabolism","Purine salvage"]	0	[]
APRT	0	[]	3	["Purine metabolism","Nucleotide metabolism","Purine salvage"]	0	[]
GMPR2	0	[]	3	["Purine metabolism","Nucleotide metabolism","Purine salvage"]	0	[]
XKR9	2	["Hypospadias","Pelvic organ prolapse"]	0	[]	2	["GWAS catalog (Hypospadias)","GWAS catalog (Pelvic organ prolapse)"]

Diseases Linked via Similar Genes

Major depressive disorder Linked via 2 of 5 related genesGMPR, APRT Cerebral atrophy Linked via 1 of 5 related genesDGUOK Deoxyguanosine kinase deficiency Linked via 1 of 5 related genesDGUOK Mitochondrial dna depletion syndrome Linked via 1 of 5 related genesDGUOK Portal hypertension Linked via 1 of 5 related genesDGUOK

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Major depressive disorder	2	["GMPR","APRT"]
Cerebral atrophy	1	["DGUOK"]
Deoxyguanosine kinase deficiency	1	["DGUOK"]
Mitochondrial dna depletion syndrome	1	["DGUOK"]
Portal hypertension	1	["DGUOK"]