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AK2 Gene

protein-coding   GIFtS: 75
GCID: GC01M033476

Adenylate Kinase 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Adenylate Kinase 21 2     ATP:AMP Phosphotransferase2 3
Adenylate Monophosphate Kinase2 3     EC 2.7.4.33 8
ADK22 3     Adenylate Kinase 2, Mitochondrial2
AK 22 3     Adenylate Kinase Isoenzyme 2, Mitochondrial2
ATP-AMP Transphosphorylase 22 3     EC 2.7.48

External Ids:    HGNC: 3621   Entrez Gene: 2042   Ensembl: ENSG000000044557   OMIM: 1030205   UniProtKB: P548193   
ORGUL members:         

Export aliases for AK2 gene to outside databases

Previous GC identifers: GC01M033294 GC01M032427 GC01M032901 GC01M032977 GC01M033144 GC01M033246 GC01M033474 GC01M031590


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and sickle cell anemia. GO annotations related to this gene include adenylate kinase activity.

UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819
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

Gene Wiki entry for AK2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AK2 gene promoter:
         ER-alpha   RORalpha1   AML1a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAK2 promoter sequence
   Search Chromatin IP Primers for AK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p35.1   HGNC cytogenetic band: 1p35.1

AK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AK2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M033476:  view genomic region     (about GC identifiers)

Start:
33,473,541 bp from pter      End:
33,546,597 bp from pter
Size:
73,057 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819 (See protein sequence)
Recommended Name: Adenylate kinase 2, mitochondrial  
Size: 239 amino acids; 26478 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for AK2:
2C9Y (3D)    
Secondary accessions: A8K6L1 B4DHH7 B4DL64 Q16856 Q5EB54 Q5TIF7 Q8TCY2 Q8TCY3
Alternative splicing: 6 isoforms:  P54819-1   P54819-2   P54819-3   P54819-4   P54819-5   P54819-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AK2: NX_P54819

Explore proteomics data for AK2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys28, Lys93
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AK2 (P54819) (see all 20)
     LIRRSDD  ASGSELG  MDAGKLV  AGKGTQA 


    See AK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186128.1  NP_001616.1  NP_037543.1  

    ENSEMBL proteins: 
     ENSP00000362548   ENSP00000449003   ENSP00000447082   ENSP00000450109   ENSP00000346921  
     ENSP00000450008   ENSP00000446849  
    Reactome Protein details: P54819

    AK2 Human Recombinant Protein Products:

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    AK2 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AK: Adenylate kinases

    5 InterPro protein domains:
     IPR006259 Adenyl_kin_sub
     IPR000850 Adenylat/UMP-CMP_kin
     IPR007862 Adenylate_kinase_lid-dom
     IPR028587 AK2
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P54819

    ProtoNet protein and cluster: P54819

    1 Blocks protein domain: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819
    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
    Similarity: Belongs to the adenylate kinase family. AK2 subfamily


    AK2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAD2_HUMAN, P54819
    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
    Catalytic activity: ATP + AMP = 2 ADP

         Genatlas biochemistry entry for AK2:
    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

         Enzyme Numbers (IUBMB): EC 2.7.4.31 2 EC 2.7.42

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004017adenylate kinase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016776phosphotransferase activity, phosphate group as acceptor ----
    GO:0019205nucleobase-containing compound kinase activity ----
         
    AK2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AK2:
     Gemcitabine induced cell-death 

         1 MGI phenotypic allele for Ak2 (no phenotypes)

    AK2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AK2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AK2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AK2

    miRNA
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    miRTarBase miRNAs that target AK2:
    hsa-mir-16-5p (MIRT032010), hsa-mir-98-5p (MIRT027808), hsa-mir-320a (MIRT044754), hsa-mir-92a-3p (MIRT049390), hsa-mir-124-3p (MIRT002707), hsa-mir-193a-3p (MIRT044881), hsa-mir-30a-5p (MIRT028621)

    Block miRNA regulation of human, mouse, rat AK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AK2 (see all 65):
    hsa-miR-520e hsa-miR-520f hsa-miR-128 hsa-miR-1260b hsa-miR-3653 hsa-miR-29a* hsa-miR-520b hsa-miR-27a
    SwitchGear 3'UTR luciferase reporter plasmidAK2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AK2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): AK2 (NM_013411)
    Sino Biological Human cDNA Clone for AK2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KAD2_HUMAN, P54819: Mitochondrion intermembrane space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005758mitochondrial intermembrane space TAS--
    GO:0005829cytosol IEA--
    GO:0036126sperm flagellum ----

    AK2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AK2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    3purine nucleotide salvage
    purine nucleotide salvage0.78
    adenosine ribonucleotides de novo biosynthesis0.51
    purine nucleotides de novo biosynthesis0.78
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    Synthesis and interconversion of nucleotide di- and triphosphates0.00
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Cholera Infection0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AK2
        Cholera Infection
    AMPK Enzyme Complex Pathway

    1 GeneGo (Thomson Reuters) Pathway for AK2
        ATP/ITP metabolism

    3 BioSystems Pathways for AK2
        purine nucleotides de novo biosynthesis
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis


    1 Reactome Pathway for AK2
        Synthesis and interconversion of nucleotide di- and triphosphates

    1 PharmGKB Pathway for AK2
        Tenofovir/Adefovir Pathway, Pharmacokinetics

    2 Kegg Pathways  (Kegg details for AK2):
        Purine metabolism
    Metabolic pathways


    AK2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AK2
    Interactions:

        Search GeneGlobe Interaction Network for AK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AK2 (P548193 ENSP000003469214) via UniProtKB, MINT, STRING, and/or I2D (see all 179)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    ENSG00000231116P266403I2D: score=1 
    VARSP266403I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0006119oxidative phosphorylation IEA--
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006172ADP biosynthetic process IEA--
    GO:0007420brain development IEA--

    AK2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AK2 (KAD2)

    5 HMDB Compounds for AK2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
    dADP2'-deoxyadenosine-5'-diphosphate (see all 3)2793-06-8--

    3 DrugBank Compounds for AK2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bis(Adenosine)-5'-Pentaphosphate-- --target--17139284 17016423 10592235
    TenofovirD,L-Tenofovir (see all 4)147127-20-6enzymesubstrate12523458
    Adefovir DipivoxilAdefovir (see all 7)142340-99-6enzymesubstrate--

    4 Novoseek inferred chemical compound relationships for AK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ddamp 94 1 17626051 (1)
    adenylate 81.8 34 16864784 (2), 19043416 (2), 9434148 (2), 9504408 (2) (see all 23)
    adp 19.7 2 8066053 (1)
    atp 0 1 8066053 (1)



    AK2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AK2 gene (3 alternative transcripts): 
    NM_001199199.1  NM_001625.3  NM_013411.4  

    Unigene Cluster for AK2:

    Adenylate kinase 2
    Hs.470907  [show with all ESTs]
    Unigene Representative Sequence: NR_037591
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373449(uc001bwq.2 uc010ohq.2 uc001bwo.2 uc009vud.2)
    ENST00000548033 ENST00000482191 ENST00000491241 ENST00000467905 ENST00000480134
    ENST00000354858(uc010ohr.2 uc001bwp.2) ENST00000550338 ENST00000469238
    ENST00000466029 ENST00000487289 ENST00000548559 ENST00000551979
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AK2 (see all 65):
    hsa-miR-520e hsa-miR-520f hsa-miR-128 hsa-miR-1260b hsa-miR-3653 hsa-miR-29a* hsa-miR-520b hsa-miR-27a
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat AK2
      QuantiFast Probe-based Assays in human, mouse, rat AK2

    Additional mRNA sequence: 

    AB005621.1 AB005622.1 AB451267.1 AB451394.1 AK291676.1 AK295105.1 AK296863.1 AK307731.1 
    AY080899.1 AY080900.1 BC009405.2 BC026705.1 BC070127.1 BC090040.1 NR_037591.1 NR_037592.1 
    U39945.1 U54645.1 U84371.1 

    Selected DOTS entries (see all 33):

    DT.95269824  DT.454355  DT.100880045  DT.100880044  DT.100880058  DT.100880040  DT.100695057  DT.100880060 
    DT.100880047  DT.120221  DT.121374433  DT.100880039  DT.121356518  DT.91889844  DT.86855239  DT.121356520 
    DT.121356540  DT.450608  DT.100880051  DT.121356512  DT.100683923  DT.100880056  DT.100880061  DT.121356465 

    Selected AceView cDNA sequences (see all 848):

    BX443042 AW514066 BU152978 CB306890 BQ881950 AA384834 BU730655 BQ962840 
    NM_172199 AA962473 AA299580 BM456709 CR608413 AI274557 BI823367 CR616874 
    AI800348 CK822006 N89916 CR623201 BM541786 AA126802 BI856201 H93441 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AK2 (see all 9)    About this scheme

    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:                                -     -     -                 -                                                                                 


    ECgene alternative splicing isoforms for AK2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAGACTTG
    AK2 Expression
    About this image


    AK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Kidney (Urinary System)
             Metanephros
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    AK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470907

    UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819
    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)

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AK2 gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ak21 , 5 adenylate kinase 21, 5 87.87(n)1
    94.98(a)1
      4 (62.62 cM)5
    116371  NM_001033966.41  NP_001029138.11 
     1289919585 
    chicken
    (Gallus gallus)
    Aves AK21 adenylate kinase 2 78.61(n)
    87.17(a)
      428227  XM_004947852.1  XP_004947909.1 
    lizard
    (Anolis carolinensis)
    Reptilia AK26
    adenylate kinase 2
    87(a)
    1 ↔ 1
    GL343711.1(1620-7209)
    African clawed frog
    (Xenopus laevis)
    Amphibia ak2-prov2 Adenylate kinase 2 77.54(n)    BC041509.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC053160.12   -- 77.25(n)    BC053160.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Adk21 , 3 adenylate kinase3
    Adenylate kinase-21
    65(a)3
    62.57(n)1
    67.54(a)1
      60B33
    378341  NM_079112.31  NP_523836.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C29E4.83
    let-7541
    Adenylate kinase3
    let-7541
    65(a)3
    59.44(n)1
    64.16(a)1
      III(8022003-8023345)3
    1761181  NM_066329.51  NP_498730.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADK1(YDR226W)4
    ADK11
    Adenylate kinase, required for purine metabolism; localized more4
    ADK11
    55.76(n)1
    58.88(a)1
      4(916486-917154)4
    8518121, 4  NP_010512.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G503701 AT5G50370 57.31(n)
    54.68(a)
      835104  NM_124418.3  NP_199848.1 
    rice
    (Oryza sativa)
    Liliopsida Os.79902 Oryza sativa mRNA for adenylate kinase-b, complete more 69.3(n)    D10335.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AK2 gene
    5 SIMAP similar genes for AK2 using alignment to 6 protein entries:     KAD2_HUMAN (see all proteins):
    AK5    AK3    AK1    AK4    AK9

    AK2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for AK2
    PGOHUM00000263026 PGOHUM00000240008


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AK2 (see all 674)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0546304
    Reticular dysgenesis (RDYS)4--see VAR_0546302 R W mis40--------
    VAR_0546314
    Reticular dysgenesis (RDYS)4--see VAR_0546312 D G mis40--------
    rs2676066481,2
    Cpathogenic133566789(-) TCCCTA/C/TGGACT 8 R W nc-transcript-variantmis10--------
    rs1998339491,2
    C--31615355(+) AAAAA-/AAAG  
            
    AAGAA
    5 -- int10--------
    rs675658031,2
    C--31615358(+) AAAAAGAAA/-  
            
    AGAAA
    5 -- int11Minor allele frequency- -:0.50NA 2
    rs675658061,2
    C--31615358(+) AAAAAA/GAAAAG 5 -- int10--------
    rs558613881,2
    C--31616670(+) ACACA-/AT/CA 
            
    TATAT
    5 -- int10--------
    rs604791311,2
    C--33473140(+) TCCTT-/CCCCCAAC 3 -- ds50010--------
    rs670409561,2
    C--33475993(+) AAAGCC/-TCCCT 3 -- ut31 nc-transcript-variant1Minor allele frequency- -:0.50CSA 2
    rs1130396531,2
    C,F--33482164(+) GGAGTG/ACAATG 5 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for AK2 (33473541 - 33546597 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2080204CNV Deletion18987734
    esv2326918CNV Deletion18987734
    esv2746574CNV Deletion23290073
    nsv509169CNV Insertion20534489
    nsv834602CNV Loss17160897
    esv7538CNV Loss19470904

    Human Gene Mutation Database (HGMD): AK2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AK2
    DNA2.0 Custom Variant and Variant Library Synthesis for AK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 103020   
    OMIM disorders: 267500  
    UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for AK2:    
    About MalaCards
    reticular dysgenesis    sickle cell anemia    hematopoietic stem cell transplantation    severe combined immunodeficiency
    cholera    pneumonia    thyroiditis    tonsillitis
    multiple myeloma    myeloma    malaria    cerebritis
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for AK2:
    Severe combined immunodeficiency

    AK2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for AK2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    reticular dysgenesis 94.8 3 19043417 (1), 19468337 (1), 19043416 (1)

    Genetic Association Database (GAD): AK2
    Human Genome Epidemiology (HuGE) Navigator: AK2 (1 document)

    Export disorders for AK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AK2 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with AK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of cDNA for human adenylate kinase 2A. (PubMed id 8843353)1, 2, 3 Lee Y.... Choe I.S. (Biochem. Mol. Biol. Int. 1996)
    2. Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. (PubMed id 9504408)1, 2, 9 Lee Y.... Choe I.S. (J. Biochem. 1998)
    3. cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2. (PubMed id 9434148)1, 2, 9 Noma T.... Nakazawa A. (Biochim. Biophys. Acta 1998)
    4. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. (PubMed id 19043417)1, 2, 9 Pannicke U....Schwarz K. (Nat. Genet. 2009)
    5. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. (PubMed id 19043416)1, 2, 9 Lagresle-Peyrou C.... Cavazzana-Calvo M. (Nat. Genet. 2009)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Gene order and localization of enzyme loci on the short arm of chromosome 1. (PubMed id 6961883)1, 3 Carritt B....Welch H.M. (Ann. Hum. Genet. 1982)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 204 HGNC: 362 AceView: AK2 Ensembl:ENSG00000004455 euGenes: HUgn204
    ECgene: AK2 Kegg: 204 H-InvDB: AK2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AK2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AK2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AK2 gene:
    Search GeneIP for patents involving AK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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