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ALPP Gene

protein-coding   GIFtS: 68
GCID: GC02P233244

Alkaline Phosphatase, Placental

(Previous names: alkaline phosphatase, placental (Regan isozyme))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alkaline Phosphatase, Placental1 2     Alkaline Phosphatase, Placental (Regan Isozyme)1
Regan Isozyme1 2     ALP2
Alkaline Phosphatase Regan Isozyme2 3     PALP2
Placental Alkaline Phosphatase 12 3     Alkaline Phosphatase, Placental Type2
PLAP2 3     Alkaline Phosphomonoesterase2
PLAP-12 3     glycerophosphatase2
EC 3.1.3.13 8     

External Ids:    HGNC: 4391   Entrez Gene: 2502   Ensembl: ENSG000001632837   OMIM: 1718005   UniProtKB: P051873   

Export aliases for ALPP gene to outside databases

Previous GC identifers: GC02P231300 GC02P231972 GC02P233207 GC02P233445 GC02P233068 GC02P232951 GC02P225094


(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 ALPP Gene:
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and
liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue
non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme,
also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely
related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this
form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu
family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for
this form of alkaline phosphatase have been well characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALPP Gene:
ALPP (alkaline phosphatase, placental) is a protein-coding gene. Diseases associated with ALPP include waardenburg syndrome type i, and bone mineral density, low. GO annotations related to this gene include alkaline phosphatase activity. An important paralog of this gene is ALPPL2.

Gene Wiki entry for ALPP (Placental alkaline phosphatase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALPP gene promoter:
         AML1a   GCNF   CUTL1   NF-kappaB   SRY   POU2F1   POU2F1a   NF-kappaB2   TGIF   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALPP promoter sequence
   Search Chromatin IP Primers for ALPP

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


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

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P233244:  view genomic region     (about GC identifiers)

Start:
233,243,244 bp from pter      End:
233,247,599 bp from pter
Size:
4,356 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PPB1_HUMAN, P05187 (See protein sequence)
Recommended Name: Alkaline phosphatase, placental type precursor  
Size: 535 amino acids; 57954 Da
Cofactor: Binds 1 magnesium ion
Cofactor: Binds 2 zinc ions
Subunit: Homodimer
Miscellaneous: In most mammals there are four different isozymes: placental, placental-like, intestinal and tissue
non-specific (liver/bone/kidney)
Sequence caution: Sequence=AAA51708.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for ALPP (see all 8):
1EW2 (3D)        1ZEB (3D)        1ZED (3D)        1ZEF (3D)        2GLQ (3D)        3MK0 (3D)    
Secondary accessions: P05188 P06861 Q53S78 Q96DB7

Explore the universe of human proteins at neXtProt for ALPP: NX_P05187

Explore proteomics data for ALPP at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn144, Asn271
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALPP (P05187) (see all 17)
     TTRGNEV  VEGGRID  NLVQEWL  GVVTTTR 


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

    REFSEQ proteins: NP_001623.3  
    ENSEMBL proteins: 
     ENSP00000375881  

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    ALPP Antibody Products:

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    Abcam antibodies for ALPP (P05186, P10696, P05187)
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    LSBio Antibodies in human, mouse, rat for ALPP

    ALPP Assay Products:

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    Cloud-Clone Corp. CLIAs for ALPP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001952 Alkaline_phosphatase
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR017850 Alkaline_phosphatase_core
     IPR018299 Alkaline_phosphatase_AS

    Graphical View of Domain Structure for InterPro Entry P05187

    ProtoNet protein and cluster: P05187

    1 Blocks protein domain: IPB001952 Alkaline phosphatase

    UniProtKB/Swiss-Prot: PPB1_HUMAN, P05187
    Similarity: Belongs to the alkaline phosphatase family


    ALPP for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: PPB1_HUMAN, P05187
    Catalytic activity: A phosphate monoester + H(2)O = an alcohol + phosphate

         Genatlas biochemistry entry for ALPP:
    phosphatase alkaline,placental (Regan isozyme)

         Enzyme Number (IUBMB): EC 3.1.3.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding ISS--
    GO:0003824catalytic activity ----
    GO:0004035alkaline phosphatase activity NAS3042787
    GO:0008270zinc ion binding ISS--
    GO:0016791phosphatase activity ----
         
    ALPP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ALPP:
     Decreased focal adhesion (FA)   Decreased nuclei size in G2M 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Alppl2):
     embryogenesis  growth/size/body  mortality/aging  normal  reproductive system 

    ALPP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Alppl2tm1Jlm for ALPP

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

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    GenScript: all cDNA clones in your preferred vector: ALPP (NM_001632)
    Sino Biological Human cDNA Clone for ALPP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALPP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALPP

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    (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
    PPB1_HUMAN, P05187: Cell membrane; Lipid-anchor, GPI-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    cytoskeleton3
    endoplasmic reticulum3
    nucleus3
    cytosol2
    endosome2
    golgi apparatus2
    lysosome2
    mitochondrion2
    vacuole2
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0009986cell surface IDA15907827
    GO:0016021integral component of membrane IEA--
    GO:0031225anchored component of membrane IEA--

    ALPP for ontologies           About GeneDecksing


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

    SuperPathContained pathways About
    1Nicotinate and nicotinamide metabolism
    NAD metabolism0.43
    2Metabolism
    Metabolic pathways0.38
    3Purine metabolism (KEGG)
    ATP ITP metabolism0.31
    4Phosphatases
    Phosphatases
    5Folate biosynthesis
    Folate biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ALPP
        Phosphatases

    2 GeneGo (Thomson Reuters) Pathways for ALPP
        NAD metabolism
    ATP/ITP metabolism



    2 Kegg Pathways  (Kegg details for ALPP):
        Folate biosynthesis
    Metabolic pathways


    ALPP for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for ALPP

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

    Selected Interacting proteins for ALPP (P051872, 3 ENSP000003758814) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIGKQ926432, 3, ENSP000003598484MINT-8216721 I2D: score=3 STRING: ENSP00000359848
    GPAA1O432922, 3, ENSP000003472064MINT-8216714 I2D: score=1 STRING: ENSP00000347206
    ASPSCR1Q9BZE93, ENSP000003021764I2D: score=1 STRING: ENSP00000302176
    FAF1Q9UNN53, ENSP000003794574I2D: score=1 STRING: ENSP00000379457
    NSFL1CQ9UNZ23, ENSP000002168794I2D: score=1 STRING: ENSP00000216879
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0016311dephosphorylation NAS3042787

    ALPP for ontologies           About GeneDecksing



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

    Browse Tocris compounds for ALPP (PPB1)

    8 HMDB Compounds for ALPP    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-Nitrophenol1-Hydroxy-4-nitrobenzene (see all 8)100-02-7--
    7,8-Dihydroneopterin2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine (see all 11)1218-98-0--
    Dihydroneopterin triphosphate2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate (see all 5)20574-65-6--
    Dihydroxyacetone1,3-Dihydroxy-2-propanone (see all 21)96-26-4--
    Dihydroxyacetone phosphate1,3-Dihydroxy-2-propanone phosphate (see all 17)57-04-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for ALPP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    METHYL-PHOSPHONIC ACID MONO-(4-NITRO-PHENYL) ESTER-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for ALPP gene (see all 136)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alizarin 80.9 38 16546826 (2), 16845965 (2), 18228270 (2), 16530029 (1) (see all 28)
    p-nitrophenyl phosphate 73.7 33 15895474 (2), 11816056 (1), 8222223 (1), 8034777 (1) (see all 22)
    2-amino-2-methyl-1-propanol 73.4 7 11256805 (1), 17961309 (1), 15719705 (1), 11922923 (1) (see all 6)
    akermanite 71.4 4 16904740 (1), 19545889 (1)
    aspartate 70.6 149 2396080 (1), 9817078 (1), 11236810 (1), 15625352 (1) (see all 99)
    deoxypyridinoline 69.9 72 15050907 (4), 8911707 (3), 14727010 (2), 15166484 (2) (see all 34)
    hydroxyapatite 69.3 81 12740096 (3), 19376000 (3), 18270806 (2), 19012271 (2) (see all 40)
    alanine 68.2 144 2396080 (1), 8425894 (1), 9793665 (1), 9817078 (1) (see all 99)
    pyridinoline 64.1 36 19460508 (2), 10541322 (1), 15860920 (1), 9738702 (1) (see all 17)
    amppd 63.6 7 18402780 (1), 18452138 (1), 16643808 (1), 17719901 (1)



    ALPP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALPP gene: 
    NM_001632.3  

    Unigene Cluster for ALPP:

    Alkaline phosphatase, placental
    Hs.284255  [show with all ESTs]
    Unigene Representative Sequence: NM_001632
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392027(uc002vsq.3) ENST00000474529 ENST00000485563
    miRNA
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    Additional mRNA sequence: 

    AF217992.1 AK075432.1 BC009647.1 BC068501.1 BC094743.1 M12551.1 M14169.1 M14170.1 

    7 DOTS entries:

    DT.100687963  DT.100748673  DT.87016630  DT.95156278  DT.95156286  DT.121006034  DT.95156280 

    Selected AceView cDNA sequences (see all 152):

    BM742455 BM744140 BC068501 CR621490 R31098 AL553521 CR599162 AF217992 
    AL553983 BX095665 BM742176 BX439339 AL554586 M14169 BC009647 CB996560 
    X53279 CB995228 CB959579 H04758 BQ024423 D58627 BE549393 BV183442 

    GeneLoc Exon Structure


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


    ALPP 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
     
     Inner Cell Mass (Early Embryonic Tissues)
             201B6
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells
     
     Melanocytes (Integumentary System)
             Melanocytes-like cells
    ALPP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALPP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.284255

    UniProtKB/Swiss-Prot: PPB1_HUMAN, P05187
    Tissue specificity: Detected in placenta (at protein level)

        Custom PCR Arrays for ALPP
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    QuantiFast Probe-based Assays in human, mouse, rat ALPP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALPP

    (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 and fungi.

    Orthologs for ALPP gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alppl25
    Alpi1
    alkaline phosphatase, placental-like 25
    alkaline phosphatase, intestinal1
    78.41(n)1
    76.58(a)1
      1 (44.05 cM)5
    767681  NM_001081082.21  NP_001074551.11 
     870866905 
    chicken
    (Gallus gallus)
    Aves --
    Alkaline phosphatase
    64(a)
    1 → many
    9(15043911-15046938)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Alkaline phosphatase
    60(a)
    1 → many
    GL343304.1(677973-694404)
    zebrafish
    (Danio rerio)
    Actinopterygii alp36
    alkaline phosphatase 3
    51(a)
    many ↔ many
    Zv9_NA903(29242-50744) ENSDARG00000039048
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56563
    Aph-41
    alkaline phosphatase3
    Alkaline phosphatase 41
    44(a)
    (best of 11)3
    53.41(n)1
    46.74(a)1
      78D23
    436711  NM_079862.31  NP_524601.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PHO86
    Repressible vacuolar alkaline phosphatase; regulat...
    21(a)
    1 → many
    IV(1418550-1420250) YDR481C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALPP gene
    ALPPL22  ALPL2  ALPI2  
    3 SIMAP similar genes for ALPP using alignment to 1 protein entry:     PPB1_HUMAN:
    ALPPL2    ALPI    ALPL

    ALPP for paralogs           About GeneDecksing



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    PPB1_HUMAN, P05187: Placental ALP is highly polymorphic, there are at least three common alleles


    Selected SNPs for ALPP (see all 386)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs174127701,2
    --225095385(-) TGCGTA/GGCGAT 3 A syn10--------
    rs2015816951,2
    --232614173(+) TTGTA-/TTTTTT 1 -- us2k10--------
    rs1817259901,2
    C--232614215(+) GGCTGC/GTCTTG 1 -- us2k10--------
    rs730019731,2
    C,F--232614285(+) AATTCG/ACCCCC 1 -- us2k13Minor allele frequency- A:0.10WA NA EA 358
    rs781104611,2
    C,F--232614311(+) AACCAC/TGGATG 1 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1434720791,2
    --232614312(+) ACCACG/TGATGA 1 -- us2k10--------
    rs1467705971,2
    C--232614333(+) CCTGCC/TTCCTG 1 -- us2k10--------
    rs1846874531,2
    --232614441(+) CCAAAC/TGACAA 1 -- us2k10--------
    rs74256151,2
    C,F--232614582(+) aaaaaA/Tttagc 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1391215571,2
    --232614609(+) TGCCAA/GTAAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ALPP (233243244 - 233247599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ALPP (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv675e201CNV Deletion23290073
    esv2659833CNV Deletion23128226
    nsv436293CNV Deletion17901297
    nsv521461CNV Loss19592680
    dgv4450n71CNV Loss21882294
    nsv875971CNV Loss21882294
    nsv875996CNV Loss21882294
    nsv875977CNV Loss21882294
    nsv522450CNV Loss19592680
    nsv438382CNV Loss16468122

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALPP
    DNA2.0 Custom Variant and Variant Library Synthesis for ALPP

    (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: 171800    OMIM disorders: --

    Selected diseases for ALPP (see all 220):    
    About MalaCards
    waardenburg syndrome type i    bone mineral density, low    hypophosphatasia, infantile    dysgerminoma of ovary
    aagenaes syndrome    malignant sertoli cell tumor    central nervous system germinoma    clear cell adenoma
    hepatic tuberculosis    enterocele    clear cell chondrosarcoma    urethral intrinsic sphincter deficiency
    endodermal sinus tumor    mature teratoma    testicular sex cord-stromal tumor    mixed germ cell tumor
    lymphocytic hypophysitis    gonadoblastoma    epithelioid trophoblastic tumor    seminoma

    Selected diseases from the University of Copenhagen DISEASES database for ALPP (see all 54):
    Osteoporosis     Liver disease     Cholestasis     Hyperparathyroidism
    Osteomalacia     Hypophosphatasia     Cholangitis     Rickets
    Paget's disease of bone     Renal osteodystrophy     Hypercalcemia     Kidney failure
    Osteitis fibrosa     Hypersensitivity reaction type II disease     Seminoma     Choledocholithiasis
    Hypophosphatemia     Carcinoma     Breast cancer     Diarrhea

    ALPP for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ALPP gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypophosphatasia 84.3 29 10451522 (2), 9536930 (2), 2079838 (1), 8675582 (1) (see all 22)
    seminoma 78.7 115 2273701 (5), 8653285 (4), 1646453 (3), 17629966 (3) (see all 43)
    alkaline phosphatase, elevated serum 78.5 17 19212310 (1), 7723166 (1), 7780263 (1), 11142449 (1) (see all 16)
    germinoma 69.9 24 19106497 (2), 1723169 (2), 1966857 (1), 8615089 (1) (see all 14)
    hypophosphatasia, infantile 65 1 19631305 (1)
    osteosarcoma 63.6 42 1651438 (2), 1702922 (2), 9914326 (2), 1611300 (1) (see all 29)
    yolk sac tumor 63.3 4 10469400 (1), 1690172 (1), 8757478 (1)
    calcification 61.6 89 16958693 (3), 15974530 (3), 11401534 (3), 18160010 (2) (see all 61)
    biliary cirrhosis primary 61 6 1934501 (1), 1541936 (1), 18084701 (1), 10535881 (1) (see all 6)
    bone diseases 57.7 17 1458597 (1), 1940065 (1), 9283233 (1), 7923809 (1) (see all 14)

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

    Export disorders for ALPP 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 ALPP gene, integrated from 10 sources (see all 1611):
    (articles sorted by number of sources associating them with ALPP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Products of two common alleles at the locus for human placental alkaline phosphatase differ by seven amino acids. (PubMed id 3461452)1, 2, 3 Henthorn P.S.... Harris H. (Proc. Natl. Acad. Sci. U.S.A. 1986)
    2. Cloning, sequencing, and chromosomal localization of human term placental alkaline phosphatase cDNA. (PubMed id 3001717)1, 2, 3 Kam W.... Rutter W.J. (Proc. Natl. Acad. Sci. U.S.A. 1985)
    3. Enzyme polymorphisms, smoking, and human reproduction. A study of human placental alkaline phosphatase. (PubMed id 14595869)1, 4, 9 Magrini A....Bottini E. (Am. J. Hum. Biol. 2003)
    4. Structural studies of human alkaline phosphatase in complex with strontium: implication for its secondary effect in bones. (PubMed id 16815919)1, 2, 9 Llinas P....Le Du M.H. (Protein Sci. 2006)
    5. Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity. (PubMed id 11124260)1, 2, 9 Le Du M.H.... Stura E.A. (J. Biol. Chem. 2001)
    6. Refined structures of placental alkaline phosphatase show a consistent pattern of interactions at the peripheral site. (PubMed id 20693656)1, 2 Stec B....MillA!n J.L. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2010)
    7. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PubMed id 19570815)1, 4 Estrada K....Kayser M. (Hum. Mol. Genet. 2009)
    8. Structural studies of human placental alkaline phosphatase in complex with functional ligands. (PubMed id 15946677)1, 2 Llinas P....Le Du M.H. (J. Mol. Biol. 2005)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    10. 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)

    (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: 250 HGNC: 439 AceView: ALPPandALPPL2 Ensembl:ENSG00000163283 euGenes: HUgn250
    ECgene: ALPP Kegg: 250 H-InvDB: ALPP

    (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 ALPP Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Alkaline_phosphatase

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

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



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