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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACYP2 Gene

protein-coding   GIFtS: 59
GCID: GC02P054342

acylphosphatase 2, muscle type

 Explore 3 diseases affiliated with
ACYP2 via our new
 Human Malady Compendium 
Biological research products
for ACYP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Acylphosphatase 2, Muscle Type1 2     EC 3.6.1.73 8
ACYP2 3 5     ACYM2
Acylphosphatase, Muscle Type Isozyme2 3     Acylphosphatase-21
Acylphosphate Phosphohydrolase 22 3     

External Ids:    HGNC: 1801   Entrez Gene: 982   Ensembl: ENSG000001706347   OMIM: 1025955   UniProtKB: P146213   

Export aliases for ACYP2 gene to outside databases

Previous GC identifers: GC02P054380 GC02P054528 GC02P054155 GC02P054316 GC02P054254


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACYP2:
Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the
Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle
acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the
muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. (provided by
RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACYP2_HUMAN, P14621
Function: Its physiological role is not yet clear

Gene Wiki entry for ACYP2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACYP2 gene promoter:
         Bach1   FOXF2   NF-E2 p45   C/EBPalpha   CHOP-10   FOXC1   FOXJ2 (long isoform)   FOXJ2   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACYP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACYP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACYP2


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

Entrez Gene cytogenetic band: 2p16.2   Ensembl cytogenetic band:  2p16.2   HGNC cytogenetic band: 2p16.2

ACYP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACYP2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P054342:  view genomic region     (about GC identifiers)

Start:
54,342,410 bp from pter      End:
54,532,437 bp from pter
Size:
190,028 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACYP2_HUMAN, P14621 (See protein sequence)
Recommended Name: Acylphosphatase-2  
Size: 99 amino acids; 11140 Da

Explore the universe of human proteins at neXtProt for ACYP2: NX_P14621

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P14621

  • 3 DME Specific Peptides for ACYP2 (P14621)
     SVDYEVFG  GTVTGQVQGPE  FSNEKTISKLEYS 

    ACYP2 Protein expression data from MOPED and PaxDb:    About this image 
    ACYP2 Protein Expression
    REFSEQ proteins: NP_612457.1  
    ENSEMBL proteins: 
     ENSP00000385674   ENSP00000306448   ENSP00000378161  

    Human Recombinant Protein Products for ACYP2: 
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    Novus Biologicals ACYP2 Lysate
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    Uscn Proteins for ACYP2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    ACYP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACYP2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001792 Acylphosphatase-like
     IPR027147 Acylphosphatase-2
     IPR020456 Acylphosphatase
     IPR017968 Acylphosphatase_CS

    Graphical View of Domain Structure for InterPro Entry P14621

    ProtoNet protein and cluster: P14621

    1 Blocks protein family: IPB001792 Acylphosphatase

    UniProtKB/Swiss-Prot: ACYP2_HUMAN, P14621
    Similarity: Belongs to the acylphosphatase family
    Similarity: Contains 1 acylphosphatase-like domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACYP2_HUMAN, P14621
    Function: Its physiological role is not yet clear
    Catalytic activity: An acylphosphate + H(2)O = a carboxylate + phosphate

         Enzyme Number (IUBMB): EC 3.6.1.71 2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003998acylphosphatase activity IEA--
         
    ACYP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Acyp2 (no phenotypes)

    ACYP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACYP2 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ACYP2:
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    SwitchGear 3'UTR luciferase reporter plasmidACYP2 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ACYP2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ATP/ITP metabolism
    ATP/ITP metabolism1.00
    ATP/ITP metabolism0.98
    2Pyruvate metabolism
    Pyruvate metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ACYP2
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for ACYP2
        ATP/ITP metabolism


    1         Kegg Pathway  (Kegg details for ACYP2):
        Pyruvate metabolism


    ACYP2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACYP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for ACYP2 (P146213 ENSP000003781614) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL1Q9H0R83I2D: score=1 
    ACSS1ENSP000003169244STRING: ENSP00000316924
    ACSS2ENSP000003538044STRING: ENSP00000353804
    ALDH9A1ENSP000003468274STRING: ENSP00000346827
    ACOT12ENSP000003032464STRING: ENSP00000303246
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process TAS8268218

    ACYP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACYP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACYP2

    10/13 HMDB Compounds for ACYP2 (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetic acidAcetate (see all 12)64-19-7--
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    Benzoic acidBenzenecarboxylate (see all 22)65-85-0--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    Myristic acid1-Tridecanecarboxylate (see all 15)544-63-8--
    Palmitic acidHexaectylic acid (see all 45)57-10-3--
    Pentadecanoic acidPentadecanoate (see all 8)1002-84-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    1 DrugBank Compound for ACYP2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Formic AcidAminic acid (see all 5)64-18-6target--10592235

    5 Novoseek chemical compound relationships for ACYP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trifluoroethanol 56.8 1 14741220 (1)
    urea 43 2 9477974 (1), 10400629 (1)
    lysine 21.7 1 9740373 (1)
    alanine 11.5 2 10400629 (1)
    calcium 0 3 9352082 (2), 1319152 (1)

    Search CenterWatch for drugs/clinical trials and news about ACYP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACYP2 gene: 
    NM_138448.3  

    Unigene Cluster for ACYP2:

    Acylphosphatase 2, muscle type
    Hs.516173  [show with all ESTs]
    Unigene Representative Sequence: BX647332
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406041 ENST00000303536 ENST00000394666(uc002rxq.4) ENST00000494922


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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ACYP2:
    hsa-miR-205*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK307096.1 BC012290.1 BX647332.1 

    13 DOTS entries:

    DT.315403  DT.97843493  DT.121015667  DT.95098573  DT.95266061  DT.95154364  DT.92445534  DT.101966008 
    DT.92445546  DT.92445548  DT.92445552  DT.100778111  DT.95144143 

    24/142 AceView cDNA sequences (see all 142):

    BI768667 BG204333 CD679178 BM926245 AI362804 BE698700 BE698517 BM976314 
    BM460084 BU726627 AA405029 NM_138448 BC012290 AA284358 AA905921 BM980898 
    BG191115 BU857820 BU538727 BG201737 AI222286 AA962306 H40557 BM805430 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ACYP2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:        -     -     -     -     -           -                     
    SP2:                    -     -     -     -     -                     
    SP3:                                -     -                           
    SP4:                                      -     -                     
    SP5:        -     -     -     -     -     -     -                     


    ECgene alternative splicing isoforms for ACYP2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACYP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAATCTTTAA
    ACYP2 Expression
    About this image
    See ACYP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACYP2

    SOURCE GeneReport for Unigene cluster: Hs.516173
        SABiosciences Custom PCR Arrays for ACYP2

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ACYP2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACYP2 gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ACYP21 acylphosphatase 2, muscle type 83.33(n)
    89.36(a)
      421217  NM_001167762.1  NP_001161234.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACYP26
    --
    69(a)
    1 ↔ 1
    1(263217842-263297545)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01090073.16
    --
    46(a)
    1 ↔ 1
    11(44256202-44258256)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG140221 CG14022 51.25(n)
    44.09(a)
      33763  NM_135078.2  NP_608922.1 


    ENSEMBL Gene Tree for ACYP2 (if available)
    TreeFam Gene Tree for ACYP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACYP2 gene
    ACYP12  
    1 SIMAP similar gene for ACYP2 using alignment to 6 protein entries:     ACYP2_HUMAN (see all proteins):
    ACYP1

    ACYP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3845 NCBI SNPs in ACYP2 are shown (see all 3845    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs75654531,2
    C--54340468(+) GCCTCC/GTGGGC 1 -- us2k14Minor allele frequency- G:0.25WA NA EA 360
    rs728007461,2
    C--54340680(+) GCAGGC/ACAAGA 1 -- us2k12Minor allele frequency- A:0.14NA 122
    rs1842259011,2
    --54340813(+) CCACTC/TGCAGA 1 -- us2k10--------
    rs1423520611,2
    --54340829(+) CTGAGC/TGGGAT 1 -- us2k10--------
    rs1113900601,2
    --54340830(+) TGAGCG/AGGATA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1887304881,2
    --54340885(+) CCCAAC/GAGAAG 1 -- us2k10--------
    rs1920118221,2
    --54341002(+) CCTTAA/GGTTCT 1 -- us2k10--------
    rs1833340461,2
    --54341091(+) GAGTTA/GAGTTA 1 -- us2k10--------
    rs1870858741,2
    --54341097(+) AGTTAC/GGAGGT 1 -- us2k10--------
    rs126170941,2
    C,F,A,H--54341098(+) GTTACG/AAGGTC 1 -- us2k117Minor allele frequency- A:0.13NS EA NA WA 2340

    HapMap Linkage Disequilibrium report for ACYP2 (54342410 - 54532437 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ACYP2
         2 CNVs: 89659 67781
         2 Indels: 46018 73624

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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.)
    About This Section

    ACYP2 for disorders           About GeneDecksing

    OMIM gene information: 102595    OMIM disorders: --

    3 diseases for ACYP2:    About MalaCards
    neuroblastoma    thyroiditis    malaria

    Human Genome Epidemiology (HuGE) Navigator: ACYP2 (5 documents)

    Export disorders for ACYP2 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 ACYP2 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with ACYP2)
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    1. 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. (2004)
    2. Cloning and expression of the cDNA coding for the erythrocyte isoenzyme of human acylphosphatase. (PubMed id 7796909)1, 2 Fiaschi T....Ramponi G. (1995)
    3. Chemical synthesis and expression of a gene coding for human muscle acylphosphatase. (PubMed id 8268218)1, 3 Modesti A....Ramponi G. (1993)
    4. Human skeletal muscle acylphosphatase: the primary structure. (PubMed id 6100723)1, 2 Manao G.... Ramponi G. (1984)
    5. Mutational analysis of acylphosphatase suggests the importance of topology and contact order in protein folding. (PubMed id 10542090)1, 9 Chiti F....Dobson C.M. (1999)
    6. Differential migration of acylphosphatase isoenzymes from cytoplasm to nucleus during apoptotic cell death. (PubMed id 9070879)1, 9 Chiarugi P....Ramponi G. (1997)
    7. Rapid oligomer formation of human muscle acylphosphata se induced by heparan sulfate. (PubMed id 22522822)1 Motamedi-Shad N....Chiti F. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1 Aouizerat B.E....Tseng Z.H. (2011)
    10. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1 Oguri M....Yamada Y. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 98 HGNC: 180 AceView: ACYP2 Ensembl:ENSG00000170634 euGenes: HUgn98
    ECgene: ACYP2 Kegg: 98 H-InvDB: ACYP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACYP2 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 ACYP2 gene:
    Search GeneIP for patents involving ACYP2

    GeneCards and IP:
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