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ACP2 Gene

protein-coding   GIFtS: 68
GCID: GC11M047260

Acid Phosphatase 2, Lysosomal

  See ACP2-related disease
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
Acid Phosphatase 2, Lysosomal1 2
LAP2 3
EC 3.1.3.23 8
Lysosomal Acid Phosphatase2

External Ids:    HGNC: 1231   Entrez Gene: 532   Ensembl: ENSG000001345757   OMIM: 1716505   UniProtKB: P111173   
ORGUL members:         

Export aliases for ACP2 gene to outside databases

Previous GC identifers: GC11M049200 GC11M048138 GC11M047292 GC11M047225 GC11M047218 GC11M046959


(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 ACP2 Gene:
This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct
from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze
orthophosphoric monoesters to alcohol and phosphate. Mutations in this gene or in the related alpha subunit gene
cause acid phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms
have been identified for this gene. (provided by RefSeq, Aug 2008)

GeneCards Summary for ACP2 Gene:
ACP2 (acid phosphatase 2, lysosomal) is a protein-coding gene. Diseases associated with ACP2 include lysosomal acid phosphatase deficiency. GO annotations related to this gene include acid phosphatase activity. An important paralog of this gene is ACPP.

Gene Wiki entry for ACP2 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_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACP2 gene promoter:
         COUP-TF1   NF-1/L   NF-1   MAZR   COUP   Nkx2-5   HNF-4alpha2   GATA-2   HNF-4alpha1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACP2 promoter sequence
   Search Chromatin IP Primers for ACP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACP2


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

Entrez Gene cytogenetic band: 11p11.2|11p12-p11   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

ACP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACP2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M047260:  view genomic region     (about GC identifiers)

Start:
47,260,853 bp from pter      End:
47,270,457 bp from pter
Size:
9,605 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, 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PPAL_HUMAN, P11117 (See protein sequence)
Recommended Name: Lysosomal acid phosphatase precursor  
Size: 423 amino acids; 48344 Da
Secondary accessions: E9PCI1 Q561W5 Q9BTU7
Alternative splicing: 2 isoforms:  P11117-1   P11117-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACP2: NX_P11117

Explore proteomics data for ACP2 at MOPED

Post-translational modifications: 

  • The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the
    C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the
    lysosome lumen1
  • N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted
    N-glycosylation sites are used1
  • Glycosylation2 at Asn92, Asn133, Asn167, Asn177, Asn191, Asn267, Asn322, Asn331
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACP2 (P11117) (see all 19)
     VYDTLFC  RLQGGVL  DRTLMSA  PEYQNES 


    See ACP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001124536.1  NP_001601.1  

    ENSEMBL proteins: 
     ENSP00000256997   ENSP00000436658   ENSP00000432205   ENSP00000435261   ENSP00000432439  
     ENSP00000432466   ENSP00000436487   ENSP00000434205   ENSP00000414911   ENSP00000436828  
     ENSP00000441933  

    ACP2 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ACP2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ACP2
    GenScript Custom Purified and Recombinant Proteins Services for ACP2
    Novus Biologicals ACP2 Protein
    Novus Biologicals ACP2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACP2

     
    Search eBioscience for Proteins for ACP2 

     
    antibodies-online proteins for ACP2 (3 products) 

     
    antibodies-online peptides for ACP2

    ACP2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for ACP2
    Cloud-Clone Corp. Antibodies for ACP2
    ThermoFisher Antibodies for ACP2
    antibodies-online antibodies for ACP2 (16 products) 

    ACP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACP2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACP2
    Cloud-Clone Corp. CLIAs for ACP2
    Search eBioscience for ELISAs for ACP2 
    antibodies-online kits for ACP2 (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000560 His_Pase_superF_clade-2

    Graphical View of Domain Structure for InterPro Entry P11117

    ProtoNet protein and cluster: P11117

    1 Blocks protein domain: IPB000560 Histidine acid phosphatase

    UniProtKB/Swiss-Prot: PPAL_HUMAN, P11117
    Similarity: Belongs to the histidine acid phosphatase family


    Find genes that share domains with ACP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: PPAL_HUMAN, P11117
    Catalytic activity: A phosphate monoester + H(2)O = an alcohol + phosphate

         Genatlas biochemistry entry for ACP2:
    phosphatase acid,lysosomal

         Enzyme Number (IUBMB): EC 3.1.3.21 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003993acid phosphatase activity IEA--
         
    Find genes that share ontologies with ACP2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACP2:
     Decreased nuclei size in G2M 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Acp2):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  nervous system  other  renal/urinary system 
     skeleton 

    Find genes that share phenotypes with ACP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Acp2tm1Psa for ACP2

       genOway: Develop your customized and physiologically relevant rodent model for ACP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACP2:
    hsa-mir-16-5p (MIRT001481), hsa-mir-30a-5p (MIRT028470), hsa-mir-1 (MIRT023652)

    Block miRNA regulation of human, mouse, rat ACP2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ACP2:
    hsa-miR-140-5p hsa-miR-185* hsa-miR-3202 hsa-miR-3179
    SwitchGear 3'UTR luciferase reporter plasmidACP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACP2
    Predesigned siRNA for gene silencing in human, mouse, rat ACP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACP2

    Clone
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    OriGene clones in human, mouse for ACP2 (see all 12)
    OriGene ORF clones in mouse, rat for ACP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACP2 (NM_001610)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACP2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ACP2
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACP2


    (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
    PPAL_HUMAN, P11117: Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen. Note=The
    soluble form arises by proteolytic processing of the membrane-bound form
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    golgi apparatus2
    plasma membrane2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA3160696
    GO:0005765lysosomal membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0043202lysosomal lumen IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with ACP2           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 ACP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    ATP ITP metabolism0.31
    2Riboflavin metabolism
    Riboflavin metabolism
    3Lysosome
    Lysosome


    Find genes that share SuperPaths with ACP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ACP2
        ATP/ITP metabolism


    2 Kegg Pathways  (Kegg details for ACP2):
        Riboflavin metabolism
    Lysosome

        Pathway & Disease-focused RT2 Profiler PCR Array including ACP2: 
              Protein Phosphatases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACP2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ACP2 (P111173 ENSP000002569974) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CBX1ENSP000002256034STRING: ENSP00000225603
    PCNAENSP000003684384STRING: ENSP00000368438
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0007040lysosome organization IEA--
    GO:0016311dephosphorylation TAS3191910

    Find genes that share ontologies with ACP2           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 ACP2 (PPAL)

    8 HMDB Compounds for ACP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Propyl alcohol1-Hydroxypropane (see all 17)71-23-8--

    3 Novoseek inferred chemical compound relationships for ACP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 56.3 3 2209556 (1), 1353723 (1)
    phenylalanine 42.9 2 8509395 (1), 2209556 (1)
    tyrosine 21.1 13 11801736 (5), 1425575 (3), 8509395 (1), 2209556 (1)



    Find genes that share compounds with ACP2           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 ACP2 gene (2 alternative transcripts): 
    NM_001131064.1  NM_001610.2  

    Unigene Cluster for ACP2:

    Acid phosphatase 2, lysosomal
    Hs.532492  [show with all ESTs]
    Unigene Representative Sequence: AK097626
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256997(uc010rhe.2 uc001nei.3 uc009ylj.3 uc010rhf.2 uc010rhg.2 uc010rhh.2 uc010rhi.1 uc009ylk.2 uc010rhj.1)
    ENST00000534752 ENST00000529444 ENST00000534448 ENST00000527256 ENST00000531004
    ENST00000533929 ENST00000525230 ENST00000531547 ENST00000529663 ENST00000524769
    ENST00000530453 ENST00000444355 ENST00000529788 ENST00000537863
    miRNA
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    Block miRNA regulation of human, mouse, rat ACP2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ACP2:
    hsa-miR-140-5p hsa-miR-185* hsa-miR-3202 hsa-miR-3179
    SwitchGear 3'UTR luciferase reporter plasmidACP2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACP2
    Predesigned siRNA for gene silencing in human, mouse, rat ACP2
    Clone
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    OriGene clones in human, mouse for ACP2 (see all 12)
    OriGene ORF clones in mouse, rat for ACP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACP2 (NM_001610)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACP2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ACP2
    OriGene qSTAR qPCR primer pairs in human, mouse for ACP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACP2
      QuantiTect SYBR Green Assays in human, mouse, rat ACP2
      QuantiFast Probe-based Assays in human, mouse, rat ACP2

    Additional mRNA sequence: 

    AK097626.1 AK298122.1 AK298439.1 AK299382.1 AK300569.1 AK300911.1 AK300931.1 AK301860.1 
    AK303894.1 AK308512.1 AK311431.1 AY007137.1 BC003160.1 BC093010.1 X12548.1 

    Selected DOTS entries (see all 26):

    DT.453062  DT.120730697  DT.120730669  DT.120730611  DT.120730662  DT.100826998  DT.95371018  DT.120730590 
    DT.92450332  DT.120730554  DT.100688828  DT.40115915  DT.120730700  DT.100740730  DT.100757035  DT.100827000 
    DT.100826997  DT.100827002  DT.95371021  DT.120730612  DT.92450333  DT.120730574  DT.120730596  DT.120730609 

    Selected AceView cDNA sequences (see all 293):

    CB139437 BI824000 AA332290 BI258108 BQ637068 AU107378 BM762739 BQ437958 
    BU845972 CA395596 BP361972 AU107372 CB126883 CD516138 AA577168 BM845024 
    BM842787 BI828921 BM842290 CD366909 BM761124 BM839879 BM843752 CB124406 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACP2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for ACP2

    (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)
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    ACP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGTTGTGA
    ACP2 Expression
    About this image


    ACP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Metencephalon
    ACP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532492
        Pathway & Disease-focused RT2 Profiler PCR Array including ACP2: 
              Protein Phosphatases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACP2
    OriGene qSTAR qPCR primer pairs in human, mouse for ACP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACP2
    QuantiTect SYBR Green Assays in human, mouse, rat ACP2
    QuantiFast Probe-based Assays in human, mouse, rat ACP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACP2

    (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 animals.

    Orthologs for ACP2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acp21 , 5 acid phosphatase 2, lysosomal1, 5 88.1(n)1
    89.36(a)1
      2 (50.54 cM)5
    114321  NM_007387.21  NP_031413.11 
     912028855 
    chicken
    (Gallus gallus)
    Aves ACP21 acid phosphatase 2, lysosomal 69.42(n)
    71.93(a)
      428864  NM_001031548.1  NP_001026719.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACP26
    acid phosphatase 2, lysosomal
    66(a)
    1 ↔ 1
    1(43715166-43730601)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.32822 Transcribed sequence with weak similarity to protein more 73.94(n)    137724217 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.252432 Transcribed sequence with weak similarity to protein more 72.14(n)    CA471777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Acph-11 , 3 acid phosphatase3
    Acid phosphatase 11
    35(a)
    (best of 5)3
    49.21(n)1
    37.5(a)1
      3 99D13
    484451  NM_080178.51  NP_524917.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T13B5.33
    pho-51
    acid phosphatase3
    pho-51
    33(a)
    (best of 5)3
    44.01(n)1
    33.83(a)1
      II(1097327-1099531)3
    1760301  NM_066203.71  NP_498604.21 


    ENSEMBL Gene Tree for ACP2 (if available)
    TreeFam Gene Tree for ACP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACP2 gene
    ACPP2  ACP62  ACPT2  
    2 SIMAP similar genes for ACP2 using alignment to 10 protein entries:     PPAL_HUMAN (see all proteins):
    ACPP    ACPT

    Find genes that share paralogs with ACP2           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 ACP2 (see all 191)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428412721,2
    --47188534(+) GGCCGC/TGGTGG 1 -- int10--------
    rs21670801,2
    C,F,A,H--47188578(-) CCGCCC/TGCCTT 1 -- int13Minor allele frequency- T:0.50NA 6
    rs1819844251,2
    --47188588(+) GATCAC/TCTGAG 1 -- int10--------
    rs1871167051,2
    --47188627(+) CATGGA/GGAAAC 1 -- int10--------
    rs1915475611,2
    --47188659(+) AAATCA/CGCTGG 1 -- int10--------
    rs1814284391,2
    --47188699(+) TACTCA/GGGAGG 1 -- int10--------
    rs1857174581,2
    --47188731(+) CACCCA/GGGAGG 1 -- int10--------
    rs47529721,2
    C,F,A--47188798(+) caaaaC/Ttccat 1 -- int14Minor allele frequency- T:0.43NA CSA 7
    rs124168901,2
    C,F,H--47188819(+) taaaaG/Aaagtt 1 -- int11Minor allele frequency- A:0.50NA 4
    rs1900928921,2
    --47189001(+) AGAAAC/TGGTAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ACP2 (47260853 - 47270457 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ACP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897323CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ACP2
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    (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: 171650   
    OMIM disorders: 200950  
    UniProtKB/Swiss-Prot: PPAL_HUMAN, P11117
  • Acid phosphatase deficiency (ACPHD) [MIM:200950]: A disorder characterized by intermittent vomiting,
    hypotonia, lethargy, opisthotonos, terminal bleeding and death in early infancy. Lysosomal acid phosphatase is
    deficient in cultured fibroblasts and multiple tissues. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 1 disease for ACP2:    
    About MalaCards
    lysosomal acid phosphatase deficiency


    Find genes that share disorders with ACP2           About GenesLikeMe

    2 Novoseek inferred disease relationships for ACP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysosomal acid phosphatase 97.4 13 8509395 (1), 9746610 (1), 11801736 (1), 2209556 (1) (see all 12)
    keratoconus 54.3 2 11481261 (1), 16431954 (1)

    Genatlas disease: ACP2
    phosphatase acid,deficiency

    Genetic Association Database (GAD): ACP2
    Human Genome Epidemiology (HuGE) Navigator: ACP2 (2 documents)

    Export disorders for ACP2 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 ACP2 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with ACP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    2. 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)
    3. Structure of the human lysosomal acid phosphatase gene. (PubMed id 2776754)1, 2 Geier C.... Pohlmann R. (Eur. J. Biochem. 1989)
    4. Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment. (PubMed id 3191910)1, 2 Pohlmann R.... von Figura K. (EMBO J. 1988)
    5. Assignment and linear order of human acid phosphatase-2, esterase A4, and lactate dehydrogenase A genes on chromosome 11. (PubMed id 975882)1, 3 Shows T.B....Lalley P.A. (Cytogenet. Cell Genet. 1976)
    6. Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder. (PubMed id 5410815)1, 2 Nadler H.L. and Egan T.J. (N. Engl. J. Med. 1970)
    7. The tyrosine motifs of Lamp 1 and LAP determine their direct and indirect targetting to lysosomes. (PubMed id 11801736)1, 9 ObermA1ller S....HAPning S. (J. Cell. Sci. 2002)
    8. Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. (PubMed id 17357082)1, 9 Melquist S....Stephan D.A. (Am. J. Hum. Genet. 2007)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)

    (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: 53 HGNC: 123 AceView: ACP2 Ensembl:ENSG00000134575 euGenes: HUgn53
    ECgene: ACP2 Kegg: 53 H-InvDB: ACP2

    (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 ACP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACP2 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 ACP2 gene:
    Search GeneIP for patents involving ACP2

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



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