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Aliases for ADK Gene

Aliases for ADK Gene

  • Adenosine Kinase 2 3 4 5
  • Adenosine 5'-Phosphotransferase 2 3 4
  • EC 2.7.1.20 4 56
  • AK 3 4
  • Testicular Tissue Protein Li 14 3
  • EC 2.7.1 56

External Ids for ADK Gene

Previous GeneCards Identifiers for ADK Gene

  • GC10P074865
  • GC10P075014
  • GC10P075803
  • GC10P075255
  • GC10P075580
  • GC10P075910
  • GC10P069907

Summaries for ADK Gene

Entrez Gene Summary for ADK 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 cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for ADK Gene

ADK (Adenosine Kinase) is a Protein Coding gene. Diseases associated with ADK include Hypermethioninemia Due To Adenosine Kinase Deficiency and Hypermethioninemia. Among its related pathways are Abacavir Pathway, Pharmacokinetics/Pharmacodynamics and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include adenosine kinase activity. An important paralog of this gene is RBKS.

UniProtKB/Swiss-Prot for ADK Gene

  • ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.

Tocris Summary for ADK Gene

  • Adenosine kinase (ADK) is a highly conserved monomeric enzyme that constitutes the primary route of adenosine metabolism under normal conditions. ADK decreases intracellular adenosine levels by catalyzing its conversion into AMP and ADP, using ATP as a phosphate donor.

Gene Wiki entry for ADK Gene

Additional gene information for ADK Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADK Gene

Genomics for ADK Gene

GeneHancer (GH) Regulatory Elements for ADK Gene

Promoters and enhancers for ADK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J074174 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 633.5 +25.9 25853 5.5 MTA3 ELF3 ZKSCAN8 MNT CBFA2T2 ZNF148 NKRF MLLT1 ZNF121 CEBPG ADK KAT6B GLUD1P3 DUSP8P5 AP3M1 ENSG00000272140 AGAP5 ENSG00000242288 ENSG00000272791 SEC24C
GH10J074149 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 617 +0.4 416 4.4 SP1 ELF3 ZFX MNT NKRF POLR2A MLLT1 ZNF121 GTF2F1 ZNF687 ADK AP3M1 SEC24C ENSG00000272140 NDST2 ZSWIM8 GLUD1P3 DUSP8P5 BMS1P4 VCL
GH10J074164 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 51.5 +16.0 16020 5.7 CBFA2T2 YY1 PRDM1 SMARCA4 IKZF1 POLR2A ZBTB33 DPF2 PRDM10 IKZF2 ADK CFAP70 NDST2 GC10P074285
GH10J074046 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 33.8 -97.2 -97249 16.7 CTCF CC2D1A MLLT1 ZNF121 ZNF384 CDC5L TRIM24 SP7 CREM PRDM1 ADK VCL CAMK2G C10orf55 PLAU ENSG00000229990 GC10P074056 ENSG00000225761
GH10J074028 Enhancer 1.3 Ensembl ENCODE dbSUPER 33.3 -118.6 -118552 7.5 CC2D1A MLLT1 NFIB CTCF BACH1 SP7 SP1 POLR2A MZF1 EGR1 DNAJC9 ADK ENSG00000227540 GLUD1P3 KAT6B DUSP8P5 ENSG00000272791 VCL FAM149B1 C10orf55
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADK gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP

Genomic Locations for ADK Gene

Genomic Locations for ADK Gene
chr10:74,151,185-74,709,303
(GRCh38/hg38)
Size:
558,119 bases
Orientation:
Plus strand
chr10:75,910,943-76,469,061
(GRCh37/hg19)
Size:
558,119 bases
Orientation:
Plus strand

Genomic View for ADK Gene

Genes around ADK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADK Gene

Proteins for ADK Gene

  • Protein details for ADK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55263-ADK_HUMAN
    Recommended name:
    Adenosine kinase
    Protein Accession:
    P55263
    Secondary Accessions:
    • B7Z783
    • B7Z800
    • O00741
    • O00742
    • Q16710
    • Q5JQ10
    • Q5JQ11
    • Q9BTN2

    Protein attributes for ADK Gene

    Size:
    362 amino acids
    Molecular mass:
    40545 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAB01689.1; Type=Frameshift; Positions=17; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADK Gene

    Alternative splice isoforms for ADK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADK Gene

Selected DME Specific Peptides for ADK Gene

P55263:
  • TESEVTA
  • KHKELFDELV
  • AGFFLTVSPES
  • MGNPLLD
  • FTQGRDDT
  • ANLAAANCYKKEKHLDLE
  • DTNGAGDAF
  • FVGGFLSQLV

Post-translational modifications for ADK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ADK Gene

Gene Families for ADK Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ADK Gene

GenScript: Design optimal peptide antigens:
  • Adenosine 5'-phosphotransferase (ADK_HUMAN)
  • cDNA FLJ61435, moderately similar to Adenosine kinase (EC 2.7.1.20) (B7Z783_HUMAN)
  • cDNA FLJ57673, highly similar to Adenosine kinase (EC 2.7.1.20) (B7Z800_HUMAN)
  • cDNA FLJ75655, highly similar to Homo sapiens adenosine kinase (ADK), transcript variant ADK-short, mRNA (Q5JQ10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55263

UniProtKB/Swiss-Prot:

ADK_HUMAN :
  • Belongs to the carbohydrate kinase PfkB family.
Family:
  • Belongs to the carbohydrate kinase PfkB family.
genes like me logo Genes that share domains with ADK: view

Function for ADK Gene

Molecular function for ADK Gene

UniProtKB/Swiss-Prot Function:
ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine + ATP = ADP + AMP + H(+); Xref=Rhea:RHEA:20824, ChEBI:CHEBI:15378, ChEBI:CHEBI:16335, ChEBI:CHEBI:30616, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=2.7.1.20;.
GENATLAS Biochemistry:
adenosine kinase,38.7kDa

Enzyme Numbers (IUBMB) for ADK Gene

Phenotypes From GWAS Catalog for ADK Gene

Gene Ontology (GO) - Molecular Function for ADK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004001 adenosine kinase activity IBA,TAS 21873635
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ADK: view
genes like me logo Genes that share phenotypes with ADK: view

Human Phenotype Ontology for ADK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADK Gene

MGI Knock Outs for ADK:
  • Adk Adk<tm1Bois>

Animal Model Products

  • Taconic Biosciences Mouse Models for ADK

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ADK - Now 50% OFF >
  • * ADK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ADK tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Transcription Factor Targets and HOMER Transcription for ADK Gene

Localization for ADK Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADK Gene

Isoform 1: Nucleus.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADK gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ADK: view

Pathways & Interactions for ADK Gene

genes like me logo Genes that share pathways with ADK: view

Pathways by source for ADK Gene

UniProtKB/Swiss-Prot P55263-ADK_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenosine: step 1/1.

Gene Ontology (GO) - Biological Process for ADK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006166 purine ribonucleoside salvage IEA --
GO:0006167 AMP biosynthetic process IEA --
GO:0006175 dATP biosynthetic process IEA --
GO:0009156 ribonucleoside monophosphate biosynthetic process TAS 9070863
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with ADK: view

No data available for SIGNOR curated interactions for ADK Gene

Drugs & Compounds for ADK Gene

(55) Drugs for ADK Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ribavirin Approved Pharma Enzyme, activator 1042
Adenosine Approved, Investigational Pharma Agonist, Channel blocker, Enzyme, substrate 599
Adenosine monophosphate Approved, Investigational Nutra Target, product of 0
Abacavir Approved, Investigational Pharma Enzyme, substrate 228
Magnesium Approved, Experimental, Investigational Pharma 0

(30) Additional Compounds for ADK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0

(2) Tocris Compounds for ADK Gene

Compound Action Cas Number
5-Iodotubercidin Potent adenosine kinase inhibitor; also inhibits nucleoside transporters and a range of other kinases 24386-93-4
ABT 702 dihydrochloride Adenosine kinase inhibitor; orally active 1188890-28-9

(2) ApexBio Compounds for ADK Gene

Compound Action Cas Number
5-Iodotubercidin Adenosine kinase inhibitor,potent 24386-93-4
ABT 702 dihydrochloride Adenosine kinase inhibitor 1188890-28-9
genes like me logo Genes that share compounds with ADK: view

Transcripts for ADK Gene

Unigene Clusters for ADK Gene

Adenosine kinase:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ADK - Now 50% OFF >
  • * ADK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ADK tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for ADK Gene

No ASD Table

Relevant External Links for ADK Gene

GeneLoc Exon Structure for
ADK
ECgene alternative splicing isoforms for
ADK

Expression for ADK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADK Gene

This gene is overexpressed in Liver (x4.4).

Protein differential expression in normal tissues from HIPED for ADK Gene

This gene is overexpressed in Oral epithelium (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADK Gene



Protein tissue co-expression partners for ADK Gene

NURSA nuclear receptor signaling pathways regulating expression of ADK Gene:

ADK

SOURCE GeneReport for Unigene cluster for ADK Gene:

Hs.656586

mRNA Expression by UniProt/SwissProt for ADK Gene:

P55263-ADK_HUMAN
Tissue specificity: Widely expressed. Highest level in placenta, liver, muscle and kidney.

Evidence on tissue expression from TISSUES for ADK Gene

  • Liver(4.5)
  • Skin(4.4)
  • Nervous system(3.8)
  • Heart(2.4)
  • Muscle(2.2)
  • Kidney(2.1)
  • Blood(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • forehead
  • head
  • mouth
  • skull
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
Limb:
  • foot
  • lower limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ADK: view

Orthologs for ADK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADK 35 34
  • 99.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 35
  • 94 (a)
OneToMany
ADK 34
  • 92.71 (n)
-- 35
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ADK 35 34
  • 92.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adk 17 35 34
  • 89.44 (n)
rat
(Rattus norvegicus)
Mammalia Adk 34
  • 87.22 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ADK 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADK 35 34
  • 82.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADK 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adk 34
  • 76.2 (n)
Str.1953 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.28433 34
zebrafish
(Danio rerio)
Actinopterygii adkb 35 35
  • 79 (a)
OneToMany
adka 35 34
  • 72.35 (n)
OneToMany
Dr.4408 34
fruit fly
(Drosophila melanogaster)
Insecta CG11255 35 36 34
  • 55.36 (n)
OneToMany
CG3809 35 36
  • 36 (a)
OneToMany
Ady43A 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R07H5.8 35 36 34
  • 55.85 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADO1 37 35
  • 39 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ADK1 34
  • 60.26 (n)
soybean
(Glycine max)
eudicotyledons Gma.7688 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7628 34
rice
(Oryza sativa)
Liliopsida Os04g0518000 34
  • 61.05 (n)
corn
(Zea mays)
Liliopsida Zm.247 34
barley
(Hordeum vulgare)
Liliopsida Hv.3882 34
wheat
(Triticum aestivum)
Liliopsida Ta.3437 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2861 35
  • 51 (a)
OneToOne
Species where no ortholog for ADK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ADK Gene

ENSEMBL:
Gene Tree for ADK (if available)
TreeFam:
Gene Tree for ADK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADK: view image

Paralogs for ADK Gene

Paralogs for ADK Gene

genes like me logo Genes that share paralogs with ADK: view

Variants for ADK Gene

Sequence variations from dbSNP and Humsavar for ADK Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs10824095 benign, Hypermethioninemia 74,176,853(+) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1189553 benign, Hypermethioninemia 74,709,093(+) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs12778270 likely-benign, Hypermethioninemia 74,589,271(+) T/C genic_downstream_transcript_variant, intron_variant
rs148819558 uncertain-significance, Hypermethioninemia 74,708,444(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, synonymous_variant, terminator_codon_variant
rs150465356 uncertain-significance, Hypermethioninemia 74,709,185(+) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ADK Gene

Variant ID Type Subtype PubMed ID
dgv112n27 CNV loss 19166990
dgv1265n54 CNV loss 21841781
dgv1266n54 CNV loss 21841781
dgv925n100 CNV loss 25217958
esv2466100 CNV deletion 19546169
esv2567854 CNV deletion 19546169
esv2641301 CNV deletion 19546169
esv2659855 CNV deletion 23128226
esv2661407 CNV deletion 23128226
esv2661426 CNV deletion 23128226
esv2669986 CNV deletion 23128226
esv2677955 CNV deletion 23128226
esv34143 CNV loss 18971310
esv3546514 CNV deletion 23714750
esv3578976 CNV loss 25503493
esv3623825 CNV loss 21293372
esv3623826 CNV gain 21293372
esv3623827 CNV loss 21293372
esv3623828 CNV loss 21293372
esv3623830 CNV loss 21293372
esv3623831 CNV loss 21293372
esv3623832 CNV gain 21293372
esv3623834 CNV loss 21293372
esv3891861 CNV loss 25118596
nsv1039128 CNV loss 25217958
nsv1046267 CNV gain 25217958
nsv1068703 CNV deletion 25765185
nsv1113313 CNV deletion 24896259
nsv1152988 CNV duplication 26484159
nsv475521 CNV novel sequence insertion 20440878
nsv507561 OTHER sequence alteration 20534489
nsv515824 CNV gain+loss 19592680
nsv551528 CNV loss 21841781
nsv7165 CNV insertion 18451855
nsv948071 CNV duplication 23825009
nsv948072 CNV duplication 23825009
nsv950977 CNV duplication 24416366
nsv971906 CNV deletion 23825009

Variation tolerance for ADK Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADK
Human Gene Mutation Database (HGMD)
ADK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADK Gene

Disorders for ADK Gene

MalaCards: The human disease database

(7) MalaCards diseases for ADK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypermethioninemia due to adenosine kinase deficiency
  • mental retardation, autosomal recessive 8, formerly; mrt8, formerly
hypermethioninemia
  • mat deficiency
rasmussen encephalitis
  • rasmussen syndrome
mitochondrial dna depletion syndrome 13
  • mtdps13
adenosine deaminase deficiency
  • severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ADK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADK_HUMAN
  • Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]: A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. {ECO:0000269 PubMed:21963049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADK: view

No data available for Genatlas for ADK Gene

Publications for ADK Gene

  1. Cloning of human adenosine kinase cDNA: sequence similarity to microbial ribokinases and fructokinases. (PMID: 8577746) Spychala J … Mitchell BS (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 23 58
  2. Subcellular localization of adenosine kinase in mammalian cells: The long isoform of AdK is localized in the nucleus. (PMID: 19635462) Cui XA … Gupta RS (Biochemical and biophysical research communications 2009) 3 4 23 58
  3. Structure of human adenosine kinase at 1.5 A resolution. (PMID: 9843365) Mathews II … Ealick SE (Biochemistry 1998) 3 4 23 58
  4. Cloning and expression of the adenosine kinase gene from rat and human tissues. (PMID: 9070863) McNally T … Halbert DN (Biochemical and biophysical research communications 1997) 3 4 23 58
  5. Cloning and characterization of cDNA for adenosine kinase from mammalian (Chinese hamster, mouse, human and rat) species. High frequency mutants of Chinese hamster ovary cells involve structural alterations in the gene. (PMID: 8917457) Singh B … Gupta RS (European journal of biochemistry 1996) 3 4 23 58

Products for ADK Gene

Sources for ADK Gene

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