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ACP2 Gene

protein-coding   GIFtS: 61

GC11M047218
acid phosphatase 2, lysosomal
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for ACP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
acid phosphatase 2, lysosomal1 2
LAP2 3
lysosomal acid phosphatase2
EC 3.1.3.23

External Ids:    HGNC: 1231   Entrez Gene: 532   Ensembl: ENSG000001345757   UniProtKB: P111173   

Search outside databases for aliases for ACP2 gene

Previous GC identifers: GC11M049200 GC11M048138 GC11M047292 GC11M047225

Summaries
for ACP2 gene

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

  User Feedback		 Entrez Gene summary for ACP2:
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)

Gene Wiki entry for ACP2

Genomic Views
for ACP2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the ACP2 gene upstream (promoter) region "":
NF-kappaB1   HNF-4alpha2   COUP-TF1   GATA-1   GR-alpha   GR-beta   Cart-1   STAT3   Lmo2   ZID   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for ACP2:  ""
MePH15079-1A   

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

Entrez Gene cytogenetic band: 11p11.2-p11.11|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)
""

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M047218:  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
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  

Proteins
for ACP2 gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: PPAL_HUMAN, P11117 (See protein sequence)
Recommended Name: Lysosomal acid phosphatase precursor  
Size: 423 amino acids; 48344 Da
Subcellular location: Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen. Note=The soluble
form arises by proteolytic processing of the membrane-bound form
Secondary accessions: Q561W5 Q9BTU7

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


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


    ENSEMBL proteins: 
    ENSP00000414911 ENSP00000256997 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Enzo Life Sciences proteins for ACP2
    ""HuPro® and/or Recombinant Proteins from Abnova for ACP2 ""
    "" Origene Purified Recombinant Human Protein: ACP2
    ""Novus Biologicals Protein for ACP2  ""
    Novus Biologicals Lysate for ACP2
    ""Browse Sino Biological Recombinant Proteins  ""

    5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764 lysosome IDA3160696
    GO:0005765 lysosomal membrane IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    GO:0019717 synaptosome IEA--
    About this table

    "" ACP2 for ontologies           About GeneDecksing



    Antibodies for ACP2: 
    ""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    ""Sigma-Aldrich Antibodies for ACP2
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (ACP2)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for ACP2
    ""Browse antibodies at Epitomics

    Assays for ACP2: 
    ""Browse Kits and Assays available from Millipore
    ""Sigma-Aldrich ELISAs for ACP2
    "" Browse R&D Systems for biochemical assays
    ""Enzo Life Sciences assays for ACP2

    Protein Domains/
    Families
    for ACP2 gene

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

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    "" ACP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000560 His_Pase_superF_clade-2

    Graphical View of Domain Structure for InterPro Entry P11117

    ProtoNet protein and cluster: P11117

    1 Blocks protein family: IPB000560 Histidine acid phosphatase

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

    Gene Function
    for ACP2 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (ACP2)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): ACP2
    Origene shRNA RFP (see all 2): ACP2
    Origene basic RS shRNA (see all 2): ACP2

    ""Applied Biosystems Silencer® siRNAs for ACP2
    ""Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ACP2
    Sigma-Aldrich shRNA for ACP2
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): ACP2
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ACP2
    Origene untagged cDNA clones in CMV expression vector (see all 2): ACP2
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: PPAL_HUMAN, P11117
    Catalytic activity: A phosphate monoester + H(2)O = an alcohol + phosphate
    Enzyme Number (IUBMB): EC 3.1.3.2 

    Genatlas biochemistry entry for ACP2:
    phosphatase acid,lysosomal

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001784 phosphotyrosine binding IEA--
    GO:0003993 acid phosphatase activity IEA--
    GO:0004721 phosphoprotein phosphatase activity IEA--
    GO:0016787 hydrolase activity IEA--
    About this table

    "" ACP2 for ontologies           About GeneDecksing

    Animal Models: 9 MGI mutant phenotypes (inferred from 4 alleles"") (MGI details for Acp2):

    behavior/neurologicalcellulargrowth/sizehematopoietic systemimmune system
    nervous systemrenal/urinary systemskeletonskin/coat/nails

    "" ACP2 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for ACP2 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" ACP2 for pathways           About GeneDecksing

    1 "" Millipore Pathway for ACP2
      ""  ATP/ITP metabolism

    1 "" Sigma-Aldrich "Your Favorite Gene" Pathway for  ACP2  (Your Favorite Gene powered by Ingenuity)
      ""  Riboflavin Metabolism

    2 "" Kegg Pathways  (Kegg details for ACP2):
      ""  hsa00740 Riboflavin metabolism
    hsa04142 Lysosome

    "" Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACP2

    5/12 Interacting proteins for ACP2 (ENSP000002569973) via UniProtKB, MINT, and/or STRING (see all 12 ) ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENPP1ENSP000003509643STRING: ENSP00000350964
    ENPP2ENSP000002594863STRING: ENSP00000259486
    ENPP3ENSP000003502653STRING: ENSP00000350265
    FLAD1ENSP000002921803STRING: ENSP00000292180
    PON1ENSP000002223813STRING: ENSP00000222381
    About this table

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501 skeletal system development IEA--
    GO:0007040 lysosome organization IEA--
    GO:0010033 response to organic substance IEA--
    About this table

    "" ACP2 for ontologies           About GeneDecksing


    Drugs & Compounds
    for ACP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" ACP2 for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for ACP2
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for ACP2
    10/74 ""Novoseek chemical compound relationships for ACP2 gene (see all 74 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 12.90 8 2540767 (3), 9119490 (2), 1353723 (2), 2209556 (1)
    4-methylumbelliferyl phosphate 5.32 2 6465319 (1), 5823497 (1)
    tartrate 4.31 3 6455992 (1), 3964226 (1), 1580139 (1)
    hghpo4 3.97 1 7531537 (1)
    cerium 3.30 2 3363682 (1), 2406336 (1)
    tyrosine 3.20 12 11801736 (5), 1425575 (3), 2209556 (2), 8509395 (1) (see all 5)
    diosmetin 2.51 1 1609428 (1)
    methylmercury hydroxide 2.42 1 1123912 (1)
    isocitrate 2.17 2 9589866 (1), 9284916 (1)
    percoll 2.05 2 8276775 (1), 6651773 (1)
    About this table

    2 PharmGKB drug compound relationships for ACP2 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    mercaptopurinePD  FA  GN  12704389
    methotrexatePD  FA  GN  12704389
    About this table


    Transcripts
    for ACP2 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (ACP2)
    ""Applied Biosystems Silencer® siRNAs:  NM_001131064  NM_001610  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): ACP2
    Origene shRNA RFP (see all 2): ACP2
    Origene basic RS shRNA (see all 2): ACP2

    ""Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ACP2
    Sigma-Aldrich shRNA for ACP2
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate ACP2: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_001131064  NM_001610  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): ACP2
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ACP2
    Origene untagged cDNA clones in CMV expression vector (see all 2): ACP2
    Primers:"" Origene genome-wide validated SYBR primer pairs: ACP2
    ""SABiosciences RT2 qPCR Primer Assay for ACP2: PPH09976A ""

    REFSEQ mRNAs for ACP2 gene (2 alternative transcripts): 

    NM_001131064.1  NM_001610.2  

    Additional cDNA 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 CR615614.1 X12548.1 

    24/26 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.92450333  DT.95371021  DT.120730612  DT.100826996  DT.120730574  DT.120730596 

    24/293 AceView cDNA sequences (see all 293 ):

    BM761444 CB153764 BM843752 BM848638 BU845972 CD516138 AU124511 CA395596 
    BI258108 CR615614 BM845024 BM839879 BU168785 BM761124 NM_001610 AU107366 
    BM844193 CB126883 BI824000 AU107372 AU107378 BM126369 AY007137 BP361972 

    "" highest scoring ESTs for ACP2:

    AL541808 AL544274 AU117286 AU124511 AU124889 AU134828 AU135039 AU142120 AU280535 BC003160 

    Unigene Cluster for ACP2:

    Acid phosphatase 2, lysosomal
    Hs.532492  [show with all ESTs]
    Unigene Representative Sequence: AK097626


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ACP2 (see all 6 )

    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:                                                                                                                  

    About this scheme

    ECgene alternative splicing isoforms for ACP2

    2 Ensembl transcripts including schematic representations:
    ENST00000444355  ENST00000256997  

    Expression
    for ACP2 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

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    ACP2 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for ACP2

    1""  / 2""  / 3""

    3 probe-sets matching ACP2 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36651_at2, 3 U95-A 1 0.94 1.00 1.00 1.00 X15525 0.20 1.00 0.72 1
    202767_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001610 0.60 1.00 0.82 1
    202767_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    "" ACP2 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CAGGTTGTGA

    SOURCE GeneReport for Unigene cluster: Hs.532492

    Expression variation in blood from EXPOLDB for ACP2

    Primers:"" Origene genome-wide validated SYBR primer pairs: ACP2 ""
    ""SABiosciences RT2 qPCR Primer Assay for ACP2: PPH09976A ""

    Orthologs
    for ACP2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for ACP2 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 ACP21   -- acid phosphatase 2, lysosomal 91.65(n)
    95.04(a)    		 475983  XM_845140.1  XP_850233.1 
    chimpanzee
    (Pan troglodytes)    		 ACP21   -- acid phosphatase 2, lysosomal 95.78(n)
    94.75(a)    		 451166  XM_001168670.1  XP_001168670.1 
    cow
    (Bos taurus)    		 ACP21   -- acid phosphatase 2, lysosomal 88.97(n)
    91.96(a)    		 535407  NM_001076058.1  NP_001069526.1 
    rat
    (Rattus norvegicus)    		 Acp21   -- acid phosphatase 2, lysosomal 87.55(n)
    89.36(a)    		 24162  NM_016988.1  NP_058684.1 
    mouse
    (Mus musculus)    		 Acp21, 5 2 (52.00 cM)5
    		 acid phosphatase 2, lysosomal1, 5 88.1(n)1
    89.36(a)1    		 114321  NM_007387.11  NP_031413.11 
     AA7935345  AI1315845  (see all 21)
    About this table        Species with no ortholog for ACP2

    ENSEMBL Gene Tree for ACP2

    Paralogs
    for ACP2 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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    Paralogs for ACP2 gene
    ACPP2  ACP62  ACPT2  

    "" ACP2 for paralogs           About GeneDecksing


    Genomic Variants
    for ACP2 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

      User Feedback
    10/11 NCBI SNPs in ACP2 are shown (see all 11 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 57)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs22422611,2
    		C,F,A46965788(-) TCAGCC/AGGCCC 2 -- int1 ng31""8Minor allele frequency- A:0.43EA NS NA WA 2102""
    ""
    rs10502441,2
    		C,F46959457(+) GGTGGC/TGATTT 1 -- ng31""5Minor allele frequency- T:0.03NS NA 416""
    --
    rs46477601,2
    		C,F46959531(+) TGGGAC/ATGGGA 1 -- ng31""4Minor allele frequency- A:0.01NS NA 314""
    --
    rs46477641,2
    		C47261735(+) GAGGAC/TGGTGA 2 I V mis1 ref1 ese3""5Minor allele frequency- T:0.00NS EA 572""
    --
    rs46477611,2
    		F46959713(+) GTGCTCA/-CTTTT 1 -- ng31""1Minor allele frequency- -:0.01NS 178""
    ""
    rs22284011,2
    		C,F,H47261691(-) CACGTC/TGCAGA 2 V ref1 syn1 ese3""6Minor allele frequency- T:0.01MN NS EA 640""
    --
    rs21670801,2
    		C,F,A,H46961820(-) CCGCCC/TGCCTT 1 -- int1""3Minor allele frequency- T:0.50NA 6""
    --
    rs47529721,2
    		C,A46962040(+) caaaaC/Ttccat 1 -- int1""0--------
    ""
    rs22422621,2
    		C,F46965520(-) AGCCCA/CTCTGC 1 -- int1""8Minor allele frequency- C:0.43EA NS NA WA 2092""
    --
    rs3262251,2
    		C,H46967417(-) AAAAAA/Tttttt 2 -- int1 trp3""0--------
    About this table

    HapMap Linkage Disequilibrium images for ACP2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
          Database of Genomic Variants (DGV) variations for ACP2: --

    Disorders & Mutations
    for ACP2 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

      User Feedback
    "" ACP2 for disorders           About GeneDecksing

    OMIM: 171650   disorders: 200950  

    UniProtKB/Swiss-Prot: PPAL_HUMAN, P11117

  • Defects in ACP2 are a cause of acid phosphatase deficiency (ACPHD) [MIM:200950]. The clinical features are
    • intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Lysosomal
    acid phosphatase is deficient in cultured fibroblasts and multiple tissues

    10/40 ""Novoseek disease relationships for ACP2 gene (see all 40 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    acid phosphatase, lysosomal, deficiency 4.37 1 600262 (1)
    disease, i-cell 3.60 2 7576159 (1), 3552677 (1)
    follicular; lymphoma, centroblastic, centrocytic 3.18 1 6969627 (1)
    neisseria infection 2.95 1 9746610 (1)
    deficiency; zinc 2.13 2 834584 (1), 1016573 (1)
    mucolipidosis 2.10 1 7282783 (1)
    skin abnormalities 2.04 1 15503243 (1)
    seminoma 1.93 2 2248772 (2)
    polycythemia vera 1.71 2 1025804 (2)
    amyloidogenesis 1.70 1 2164824 (1)
    About this table

    1 PharmGKB disease relationship for ACP2 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1PD  FA  GN  12704389
    About this table

    Genatlas disease: ACP2
    phosphatase acid,deficiency

    Human Genome Epidemiology Navigator: ACP2 (2 documents)

    Medical News
    for ACP2 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      User Feedback    		   --

    Publications
    for ACP2 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/71 PubMed articles for ACP2 gene (see all 71 ):

    Search for ACP2 gene

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    Genome Databases showing ACP2 gene

    (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

    Other Databases showing ACP2 gene

    (According to HUGE)
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    Specialized Databases showing ACP2 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    ATLAS Chromosomes in Cancer entry for ACP2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for ACP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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      User Feedback    		Patent Information for ACP2 gene: ""
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    Services
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    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
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    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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