Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (5)

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

107

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

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

MIM	HGNC	e!Ensembl
102750	257	ENSG00000156110

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

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism		Purine salvage

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenosine kinase deficiency	Likely pathogenic; Pathogenic	rs2548024083, rs1855118837, rs397514452, rs397514453, rs397514454, rs1589286482, rs1589387419	RCV003335920 RCV003335921 RCV000022443 RCV000022444 RCV000022445 RCV000985064 RCV000988388 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADK-related disorder	Likely pathogenic; Pathogenic	rs771117099	RCV003427508	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ADK (adenosine kinase)