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AMPD2 Gene

protein-coding   GIFtS: 70
GCID: GC01P110162

Adenosine Monophosphate Deaminase 2

(Previous name: adenosine monophosphate deaminase 2 (isoform L))
  See AMPD2-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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Aliases
Adenosine Monophosphate Deaminase 21 2     AMPD Isoform L1
Adenosine Monophosphate Deaminase 2 (Isoform L)1 2     AMPD2
EC 3.5.4.63 8     AMP Deaminase 22
SPG632 5     AMP Deaminase Isoform L3

External Ids:    HGNC: 4691   Entrez Gene: 2712   Ensembl: ENSG000001163377   OMIM: 1027715   UniProtKB: Q014333   

Export aliases for AMPD2 gene to outside databases

Previous GC identifers: GC01P110641 GC01P109091 GC01P109264 GC01P109461 GC01P109874 GC01P109963 GC01P108054


(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 AMPD2 Gene:
The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein,
which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for AMPD2 Gene:
AMPD2 (adenosine monophosphate deaminase 2) is a protein-coding gene. Diseases associated with AMPD2 include pontocerebellar hypoplasia, type 9, and spastic paraplegia 63. GO annotations related to this gene include AMP deaminase activity. An important paralog of this gene is AMPD1.

UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433
Function: AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD2 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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMPD2 gene promoter:
         SRF   CP2   SRF (504 AA)   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AMPD2 promoter sequence
   Search Chromatin IP Primers for AMPD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMPD2


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

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13.3

AMPD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMPD2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P110162:  view genomic region     (about GC identifiers)

Start:
110,158,726 bp from pter      End:
110,174,677 bp from pter
Size:
15,952 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433 (See protein sequence)
Recommended Name: AMP deaminase 2  
Size: 879 amino acids; 100688 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homotetramer
Secondary accessions: B4DK50 B4DZI5 E9PNG0 Q14856 Q14857 Q16686 Q16687 Q16688 Q16729 Q5T693
Q5T695 Q96IA1 Q9UDX8 Q9UDX9 Q9UMU4
Alternative splicing: 5 isoforms:  Q01433-1   Q01433-2   Q01433-3   Q01433-4   Q01433-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AMPD2: NX_Q01433

Explore proteomics data for AMPD2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AMPD2 (Q01433) (see all 12)
     NVRWLVQ  WKLSSCD  PHRDFYN  SPNVRWL 


    See AMPD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001244289.1  NP_001244290.1  NP_004028.3  NP_631895.1  NP_981949.1  

    ENSEMBL proteins: 
     ENSP00000433739   ENSP00000345498   ENSP00000436303   ENSP00000432344   ENSP00000436541  
     ENSP00000431975   ENSP00000256578   ENSP00000351573   ENSP00000358855   ENSP00000434891  
     ENSP00000431904   ENSP00000437164   ENSP00000377292   ENSP00000437025  
    Reactome Protein details: Q01433

    AMPD2 Human Recombinant Protein Products:

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    Novus Biologicals AMPD2 Proteins
    Novus Biologicals AMPD2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AMPD2

     
    Search eBioscience for Proteins for AMPD2 

     
    antibodies-online proteins for AMPD2 (5 products) 

     
    antibodies-online peptides for AMPD2

    AMPD2 Antibody Products:

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    Abcam antibodies for AMPD2
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    ThermoFisher Antibody for AMPD2
    LSBio Antibodies in human, mouse, rat for AMPD2
    antibodies-online antibodies for AMPD2 (35 products) 

    AMPD2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for AMPD2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AMPD2
    Cloud-Clone Corp. CLIAs for AMPD2
    Search eBioscience for ELISAs for AMPD2 
    antibodies-online kits for AMPD2 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001365 A/AMP_deaminase_dom
     IPR006329 AMP_deaminase
     IPR006650 A/AMP_deam_AS

    Graphical View of Domain Structure for InterPro Entry Q01433

    ProtoNet protein and cluster: Q01433

    1 Blocks protein domain: IPB006650 Adenosine/AMP deaminase active site

    UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433
    Similarity: Belongs to the adenosine and AMP deaminases family


    Find genes that share domains with AMPD2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMPD2_HUMAN, Q01433
    Function: AMP deaminase plays a critical role in energy metabolism
    Catalytic activity: AMP + H(2)O = IMP + NH(3)

         Genatlas biochemistry entry for AMPD2:
    adenosine monophosphate deaminase 2 (88kDa) (isoform L,liver),adenine nucleotide catabolic pathway,purine
    nucleotide cycle

         Enzyme Number (IUBMB): EC 3.5.4.61 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003876AMP deaminase activity NAS8764830
    GO:0019239deaminase activity ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with AMPD2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for AMPD2:
     Increased G1 DNA content  Synthetic lethal with paclitax 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ampd2):
     homeostasis/metabolism  immune system  renal/urinary system 

    Find genes that share phenotypes with AMPD2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ampd2tm1Tm for AMPD2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMPD2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AMPD2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AMPD2

    miRNA
    Products:
        
    miRTarBase miRNAs that target AMPD2:
    hsa-mir-939-5p (MIRT036636), hsa-let-7a-5p (MIRT052568), hsa-let-7e-5p (MIRT051656), hsa-mir-24-3p (MIRT050367), hsa-mir-10a-5p (MIRT047663), hsa-mir-484 (MIRT041932)

    Block miRNA regulation of human, mouse, rat AMPD2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AMPD2 (see all 16):
    hsa-miR-3678-3p hsa-miR-34c-5p hsa-miR-3194-5p hsa-miR-449b hsa-miR-513a-5p hsa-miR-27a hsa-miR-200a hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmidAMPD2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AMPD2
    Predesigned siRNA for gene silencing in human, mouse, rat AMPD2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for AMPD2

    Clone
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    OriGene ORF clones in mouse, rat for AMPD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AMPD2 (NM_139156)
    Sino Biological Human cDNA Clone for AMPD2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for AMPD2
    Browse ESI BIO Cell Lines and PureStem Progenitors for AMPD2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD2


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3
    nucleus2
    peroxisome2
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with AMPD2           About GenesLikeMe


    (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 AMPD2 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    3Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine salvage0.00
    Metabolism of nucleotides0.42


    Find genes that share SuperPaths with AMPD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for AMPD2
        ATP/ITP metabolism


    1 Reactome Pathway for AMPD2
        Purine salvage


    2 Kegg Pathways  (Kegg details for AMPD2):
        Purine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433
    Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMPD2
    Interactions:

        Search GeneGlobe Interaction Network for AMPD2

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

    Selected Interacting proteins for AMPD2 (Q014333 ENSP000002565784) via UniProtKB, MINT, STRING, and/or I2D (see all 82)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    MARCH6O603373I2D: score=3 
    NEDD4LQ96PU53I2D: score=3 
    PIN1Q135263I2D: score=3 
    PRPF40AO754003I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006163purine nucleotide metabolic process ----
    GO:0006188IMP biosynthetic process IGI--
    GO:0032264IMP salvage IEA--
    GO:0043101purine-containing compound salvage TAS--

    Find genes that share ontologies with AMPD2           About GenesLikeMe



    (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 AMPD2

    5 HMDB Compounds for AMPD2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    AmmoniaNH3 (see all 31)7664-41-7--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    PropranololDociton (see all 8)525-66-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for AMPD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 30.7 1 7698751 (1)



    Find genes that share compounds with AMPD2           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AMPD2 gene (5 alternative transcripts): 
    NM_001257360.1  NM_001257361.1  NM_004037.7  NM_139156.3  NM_203404.1  

    Unigene Cluster for AMPD2:

    Adenosine monophosphate deaminase 2
    Hs.82927  [show with all ESTs]
    Unigene Representative Sequence: NM_001257360
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000531734 ENST00000526301(uc009wfg.1) ENST00000342115(uc001dyb.1 uc009wfh.1 uc001dye.1)
    ENST00000469039 ENST00000474459 ENST00000528667 ENST00000531203 ENST00000256578(uc001dyc.1 uc010ovr.1)
    ENST00000358729 ENST00000369840 ENST00000486282 ENST00000528270 ENST00000527846
    ENST00000528454(uc010ovs.1) ENST00000459643 ENST00000393688(uc001dyd.1)
    ENST00000534144 ENST00000525415
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AMPD2 (see all 16):
    hsa-miR-3678-3p hsa-miR-34c-5p hsa-miR-3194-5p hsa-miR-449b hsa-miR-513a-5p hsa-miR-27a hsa-miR-200a hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmidAMPD2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AMPD2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): AMPD2 (NM_139156)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat AMPD2
      QuantiFast Probe-based Assays in human, mouse, rat AMPD2

    Additional mRNA sequence: 

    AK025706.1 AK296394.1 AK302939.1 AK308907.1 AK314494.1 BC007711.2 BC030217.1 BC075844.1 
    S47833.1 U16267.1 U16268.1 U16270.1 

    24 DOTS entries:

    DT.75148818  DT.447282  DT.101969791  DT.100810284  DT.121383307  DT.100839497  DT.95331169  DT.121383296 
    DT.91775668  DT.99942917  DT.95351065  DT.100700047  DT.95331206  DT.100810281  DT.121383338  DT.91746871 
    DT.97848392  DT.100810283  DT.121383286  DT.121383299  DT.121383301  DT.121383349  DT.91775658  DT.70104272 

    Selected AceView cDNA sequences (see all 320):

    BQ219586 CA488521 BM542129 BM824027 BM724781 BM714441 AU121924 S47833 
    BM918063 BU624139 BU623504 AW004012 U16268 BG194460 BG150543 NM_139156 
    BQ897861 BF222453 BM557597 BU733125 BE501864 BI908838 BU189675 BQ690598 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AMPD2 (see all 18)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g ^
    SP1:              -     -     -     -     -     -                 -           -                                         -     -                                 
    SP2:                                                                          -                                         -     -                                 
    SP3:                                                              -           -                                         -     -                                 
    SP4:              -     -     -     -     -     -     -     -     -           -                                         -     -                                 
    SP5:                                -     -     -                 -           -                                                                                 

    ExUns: 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c
    SP1:                                            -           -                 -     -                 -                           
    SP2:                                            -           -                 -     -                 -                           
    SP3:                                                                                                                              
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for AMPD2

    (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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    AMPD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAATAAAG
    AMPD2 Expression
    About this image


    AMPD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    AMPD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMPD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.82927

    UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433
    Tissue specificity: Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal
    muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated
    myoblasts; AMP deaminase 3 is found in erythrocytes

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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 AMPD2 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ampd21 , 5 adenosine monophosphate deaminase 21, 5 90.37(n)1
    97.61(a)1
      3 (46.83 cM)5
    1096741  NM_028779.41  NP_083055.11 
     1080740625 
    chicken
    (Gallus gallus)
    Aves AMPD26
    adenosine monophosphate deaminase 2
    88(a)
    1 ↔ 1
    AADN03013667.1(21-3184)
    lizard
    (Anolis carolinensis)
    Reptilia AMPD26
    adenosine monophosphate deaminase 2
    86(a)
    1 ↔ 1
    4(105821161-105892514)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ampd21 adenosine monophosphate deaminase 2 73(n)
    82.12(a)
      100490248  XM_002932984.2  XP_002933030.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ampd26
    AMPD2 (2 of 2)6
    adenosine monophosphate deaminase 2
    78(a)
    76(a)
    1 ↔ many
    1 ↔ many
    8(26100188-26144559) ENSDARG00000029952
    22(2373493-2417919) ENSDARG00000088554
    fruit fly
    (Drosophila melanogaster)
    Insecta CG326261 CG32626 64.19(n)
    62.86(a)
      32352  NM_001258731.1  NP_001245660.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C34F11.3b3
    C34F11.31
    C34F11.31 57(a)
    (best of 2)3
    58.65(n)1
    59.65(a)1
      II(5202470-5209649)3
    1738911  NM_062573.51  NP_494974.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AMD1(YML035C)4
    AMD11
    AMP deaminase, tetrameric enzyme that catalyzes the more4
    AMD11
    51.03(n)1
    53.42(a)1
      13(208860-206428)4
    8549731, 4  NP_013677.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FAC11 FAC1 51.97(n)
    49.73(a)
      818408  NM_179963.2  NP_850294.1 
    rice
    (Oryza sativa)
    Liliopsida Os.87792 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.76(n)    AK102007.1 


    ENSEMBL Gene Tree for AMPD2 (if available)
    TreeFam Gene Tree for AMPD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AMPD2 gene
    AMPD12  AMPD32  
    2 SIMAP similar genes for AMPD2 using alignment to 7 protein entries:     AMPD2_HUMAN (see all proteins):
    AMPD1    AMPD3

    Find genes that share paralogs with AMPD2           About GenesLikeMe



    (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 AMPD2 (see all 369)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1383534331,2
    --110160566(+) TAAGCG/TCCCCA 2 -- us2k10--------
    rs1815503621,2
    C--110160632(+) ACCCCA/GGGAAG 2 -- us2k10--------
    rs1871050721,2
    --110160658(+) CTGTGG/TAGGCA 2 -- us2k10--------
    rs1496382401,2
    --110160680(+) TTACAG/TATTTT 2 -- us2k10--------
    rs1433730951,2
    C--110160757(+) AATATA/GAAGAA 2 -- us2k10--------
    rs749156721,2
    --110160852(+) ATAAGC/TAGGAC 2 -- us2k10--------
    rs1918885571,2
    --110160910(+) TTGTAA/GACATT 2 -- us2k10--------
    rs1148006091,2
    F--110161002(+) TTGTTC/TGACCT 2 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1839390121,2
    --110161085(+) CAGCTC/GTTTTT 2 -- us2k10--------
    rs1468637571,2
    C--110161233(+) TGTAC-/GTGTGTG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for AMPD2 (110158726 - 110174677 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AMPD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv872142CNV Loss21882294
    nsv2299CNV Loss18451855
    nsv510951CNV Complex20534489

    Human Gene Mutation Database (HGMD): AMPD2
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102771   
    OMIM disorders: 615686  
    2 diseases for AMPD2:    
    About MalaCards
    pontocerebellar hypoplasia, type 9    spastic paraplegia 63

    1 disease from the University of Copenhagen DISEASES database for AMPD2:
    Liver neoplasm

    Find genes that share disorders with AMPD2           About GenesLikeMe

    Genetic Association Database (GAD): AMPD2
    Human Genome Epidemiology (HuGE) Navigator: AMPD2 (1 document)

    Export disorders for AMPD2 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 AMPD2 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with AMPD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human AMP deaminase 2 (AMPD2) gene expression reveals alternative transcripts encoding variable N-terminal extensions of isoform L. (PubMed id 8526848)1, 2, 9 Van den Bergh F. and Sabina R.L. (Biochem. J. 1995)
    2. Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA. (PubMed id 1429593)1, 2, 9 Bausch-Jurken M.T.... Sabina R.L. (J. Biol. Chem. 1992)
    3. Cloning, sequence and characterization of the human AMPD2 gene: evidence for transcriptional regulation by two closely spaced promoters. (PubMed id 8764830)1, 2, 9 Mahnke-Zizelman D.K.... Sabina R.L. (Biochim. Biophys. Acta 1996)
    4. Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. (PubMed id 1400401)1, 3, 9 Mahnke-Zizelman D.K. and Sabina R.L. (J. Biol. Chem. 1992)
    5. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PubMed id 24482476)1, 3 Novarino G....Gleeson J.G. (Science 2014)
    6. Genome-wide association study of recurrent early-onset major depressive disorder. (PubMed id 20125088)1, 4 Shi J....Levinson D.F. (Mol. Psychiatry 2011)
    7. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    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. Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC). (PubMed id 18493842)1, 9 SzydA8owska M. and Roszkowska A. (Mol. Cell. Biochem. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 271 HGNC: 469 AceView: AMPD2 Ensembl:ENSG00000116337 euGenes: HUgn271
    ECgene: AMPD2 Kegg: 271 H-InvDB: AMPD2

    (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 AMPD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AMPD2 gene:
    Search GeneIP for patents involving AMPD2

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



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