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Aliases for AK2 Gene

Aliases for AK2 Gene

  • Adenylate Kinase 2 2 3 5
  • Adenylate Monophosphate Kinase 3 4
  • ATP-AMP Transphosphorylase 2 3 4
  • ATP:AMP Phosphotransferase 3 4
  • EC 2.7.4.3 4 63
  • AK 2 3 4
  • ADK2 3 4
  • Testis Secretory Sperm-Binding Protein Li 220n 3
  • Adenylate Kinase Isoenzyme 2, Mitochondrial 3
  • EC 2.7.4 63

External Ids for AK2 Gene

Previous GeneCards Identifiers for AK2 Gene

  • GC01M033294
  • GC01M032427
  • GC01M032901
  • GC01M033144
  • GC01M033246
  • GC01M033474
  • GC01M031590
  • GC01M033476

Summaries for AK2 Gene

Entrez Gene Summary for AK2 Gene

  • Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

GeneCards Summary for AK2 Gene

AK2 (Adenylate Kinase 2) is a Protein Coding gene. Diseases associated with AK2 include reticular dysgenesis. Among its related pathways are Metabolism and Tenofovir/Adefovir Pathway, Pharmacokinetics. GO annotations related to this gene include adenylate kinase activity and phosphotransferase activity, phosphate group as acceptor. An important paralog of this gene is AK8.

UniProtKB/Swiss-Prot for AK2 Gene

  • Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.

Gene Wiki entry for AK2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK2 Gene

Genomics for AK2 Gene

Regulatory Elements for AK2 Gene

Promoters for AK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AK2 Gene

Chromosome:
1
Start:
33,007,940 bp from pter
End:
33,080,996 bp from pter
Size:
73,057 bases
Orientation:
Minus strand

Genomic View for AK2 Gene

Genes around AK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK2 Gene

Proteins for AK2 Gene

  • Protein details for AK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54819-KAD2_HUMAN
    Recommended name:
    Adenylate kinase 2, mitochondrial
    Protein Accession:
    P54819
    Secondary Accessions:
    • A8K6L1
    • B4DHH7
    • B4DL64
    • Q16856
    • Q5EB54
    • Q5TIF7
    • Q8TCY2
    • Q8TCY3

    Protein attributes for AK2 Gene

    Size:
    239 amino acids
    Molecular mass:
    26478 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AK2 Gene

    Alternative splice isoforms for AK2 Gene

neXtProt entry for AK2 Gene

Proteomics data for AK2 Gene at MOPED

Post-translational modifications for AK2 Gene

  • Ubiquitination at Lys 28 and Lys 93
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for AK2 Gene

Gene Families for AK2 Gene

Protein Domains for AK2 Gene

Suggested Antigen Peptide Sequences for AK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54819

UniProtKB/Swiss-Prot:

KAD2_HUMAN :
  • Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
  • Belongs to the adenylate kinase family. AK2 subfamily.
Domain:
  • Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
Family:
  • Belongs to the adenylate kinase family. AK2 subfamily.
genes like me logo Genes that share domains with AK2: view

Function for AK2 Gene

Molecular function for AK2 Gene

GENATLAS Biochemistry:
adenylate kinase 2,mitochondrial intermembrane space,two isoforms AK2A (26.5kDa),AK2B (25.6kDa),strongly expressed in liver,skeletal muscle,heart,kidney,adenine and guanine nucleotide pool homeostasis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + AMP = 2 ADP.
UniProtKB/Swiss-Prot Function:
Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.

Enzyme Numbers (IUBMB) for AK2 Gene

genes like me logo Genes that share phenotypes with AK2: view

Human Phenotype Ontology for AK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for AK2 Gene

miRTarBase miRNAs that target AK2

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for AK2 Gene

Localization for AK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK2 Gene

Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AK2 Gene COMPARTMENTS Subcellular localization image for AK2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for AK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with AK2: view

Pathways & Interactions for AK2 Gene

genes like me logo Genes that share pathways with AK2: view

Pathways by source for AK2 Gene

Gene Ontology (GO) - Biological Process for AK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006172 ADP biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0055086 nucleobase-containing small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AK2: view

No data available for SIGNOR curated interactions for AK2 Gene

Drugs & Compounds for AK2 Gene

(7) Drugs for AK2 Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adefovir Dipivoxil Approved, Investigational Pharma Enzyme, substrate 130
Tenofovir Approved, Investigational Pharma Enzyme, substrate HIV reverse transcriptase inhibitor 666
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Bis(Adenosine)-5'-Pentaphosphate Experimental Pharma Target 0

(5) Additional Compounds for AK2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
genes like me logo Genes that share compounds with AK2: view

Transcripts for AK2 Gene

Unigene Clusters for AK2 Gene

Adenylate kinase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AK2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: - - -
SP5: - - - -
SP6: - - - -
SP7:
SP8: -
SP9:

Relevant External Links for AK2 Gene

GeneLoc Exon Structure for
AK2
ECgene alternative splicing isoforms for
AK2

Expression for AK2 Gene

mRNA expression in normal human tissues for AK2 Gene

Protein differential expression in normal tissues from HIPED for AK2 Gene

This gene is overexpressed in Liver, secretome (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AK2 Gene



SOURCE GeneReport for Unigene cluster for AK2 Gene Hs.470907

mRNA Expression by UniProt/SwissProt for AK2 Gene

P54819-KAD2_HUMAN
Tissue specificity: Present in most tissues. Present at high level in heart, liver and kidney, and at low level in brain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present in all nucleated cell populations from blood, while AK1 is mostly absent. In spleen and lymph nodes, mononuclear cells lack AK1, whereas AK2 is readily detectable. These results indicate that leukocytes may be susceptible to defects caused by the lack of AK2, as they do not express AK1 in sufficient amounts to compensate for the AK2 functional deficits (at protein level).
genes like me logo Genes that share expression patterns with AK2: view

Protein tissue co-expression partners for AK2 Gene

- Elite partner

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AK2 Gene

Orthologs for AK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AK2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AK2 35
  • 91.34 (n)
  • 94.81 (a)
AK2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AK2 35
  • 91.63 (n)
  • 95.4 (a)
AK2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ak2 35
  • 87.87 (n)
  • 94.98 (a)
Ak2 16
Ak2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AK2 35
  • 100 (n)
  • 100 (a)
AK2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ak2 35
  • 87.17 (n)
  • 93.72 (a)
oppossum
(Monodelphis domestica)
Mammalia AK2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AK2 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK2 35
  • 78.61 (n)
  • 87.17 (a)
AK2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AK2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak2 35
  • 69.71 (n)
  • 80 (a)
African clawed frog
(Xenopus laevis)
Amphibia ak2-prov 35
zebrafish
(Danio rerio)
Actinopterygii ak2 35
  • 73.3 (n)
  • 81.42 (a)
ak2 36
  • 78 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9683 35
fruit fly
(Drosophila melanogaster)
Insecta Adk2 37
  • 65 (a)
Adk2 35
  • 62.57 (n)
  • 67.54 (a)
Adk2 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta KAD2_ANOGA 35
  • 59.69 (n)
  • 67.44 (a)
worm
(Caenorhabditis elegans)
Secernentea C29E4.8 37
  • 65 (a)
let-754 35
  • 59.44 (n)
  • 64.16 (a)
let-754 36
  • 57 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR187W 35
  • 58.68 (n)
  • 58.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13376g 35
  • 56.53 (n)
  • 57.6 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK1 35
  • 55.76 (n)
  • 58.88 (a)
ADK1 36
  • 57 (a)
OneToOne
ADK1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G50370 35
  • 57.31 (n)
  • 54.68 (a)
soybean
(Glycine max)
eudicotyledons Gma.5111 35
rice
(Oryza sativa)
Liliopsida Os.7990 35
Os11g0312400 35
  • 56.13 (n)
  • 53.77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10398 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01550 35
  • 56.98 (n)
  • 59.11 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes adk1 35
  • 56.48 (n)
  • 59.26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3935 36
  • 54 (a)
OneToOne
Species with no ortholog for AK2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)

Evolution for AK2 Gene

ENSEMBL:
Gene Tree for AK2 (if available)
TreeFam:
Gene Tree for AK2 (if available)

Paralogs for AK2 Gene

Paralogs for AK2 Gene

(5) SIMAP similar genes for AK2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for AK2 Gene

genes like me logo Genes that share paralogs with AK2: view

Variants for AK2 Gene

Sequence variations from dbSNP and Humsavar for AK2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12116440 - 33,013,276(+) GATGG(C/T)GGAGT nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_054630 Reticular dysgenesis (RDYS)
VAR_054631 Reticular dysgenesis (RDYS)
rs6884 -- 33,010,190(-) CTACT(C/T)TCATG nc-transcript-variant, utr-variant-3-prime
rs11015 -- 33,010,095(-) AAATA(A/T)ATGAG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AK2 Gene

Variant ID Type Subtype PubMed ID
nsv509169 CNV Insertion 20534489
nsv834602 CNV Loss 17160897
esv2080204 CNV Deletion 18987734
esv7538 CNV Loss 19470904
esv2746574 CNV Deletion 23290073
esv2326918 CNV Deletion 18987734

Variation tolerance for AK2 Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AK2 Gene

HapMap Linkage Disequilibrium report
AK2
Human Gene Mutation Database (HGMD)
AK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK2 Gene

Disorders for AK2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AK2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
reticular dysgenesis
  • aleukocytosis
- elite association - COSMIC cancer census association via MalaCards
Search AK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAD2_HUMAN
  • Reticular dysgenesis (RDYS) [MIM:267500]: Most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. In addition, affected newborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, in which its absence can not be compensated by AK1. {ECO:0000269 PubMed:19043416, ECO:0000269 PubMed:19043417}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AK2

Genetic Association Database (GAD)
AK2
Human Genome Epidemiology (HuGE) Navigator
AK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK2
genes like me logo Genes that share disorders with AK2: view

No data available for Genatlas for AK2 Gene

Publications for AK2 Gene

  1. Cloning and characterization of cDNA for human adenylate kinase 2A. (PMID: 8843353) Lee Y. … Choe I.S. (Biochem. Mol. Biol. Int. 1996) 2 3 4 67
  2. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. (PMID: 19043416) Lagresle-Peyrou C. … Cavazzana-Calvo M. (Nat. Genet. 2009) 3 23
  3. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. (PMID: 19043417) Pannicke U. … Schwarz K. (Nat. Genet. 2009) 3 23
  4. AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10. (PMID: 17952061) Lee H.J. … Jung Y.K. (Nat. Cell Biol. 2007) 3 23
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for AK2 Gene

Sources for AK2 Gene

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