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APOH Gene

protein-coding   GIFtS: 67
GCID: GC17M064208

Apolipoprotein H (Beta-2-Glycoprotein I)


(Previous symbol: B2G1)
Microbiology & Infectious Diseases Congress
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(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
Apolipoprotein H (Beta-2-Glycoprotein I)1 2     BG2
B2G11 2 3     apo-H2
Beta-2-Glycoprotein I1 3     beta(2)GPI2
Activated Protein C-Binding Protein2 3     Beta-2-Glycoprotein 12
Anticardiolipin Cofactor2 3     Apo-H3
B2GPI2 3     Beta(2)GPI3
APC Inhibitor2 3     Apolipoprotein H3
B2GP12     

External Ids:    HGNC: 6161   Entrez Gene: 3502   Ensembl: ENSG000000915837   OMIM: 1387005   UniProtKB: P027493   

Export aliases for APOH gene to outside databases

Previous GC identifers: GC17P064187 GC17P067253 GC17M064625 GC17M064758 GC17M061638 GC17M059599


(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 APOH Gene:
Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism,
coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic
phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary
antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid
autoantibodies associated with infections. (provided by RefSeq, Jul 2008)

GeneCards Summary for APOH Gene:
APOH (apolipoprotein H (beta-2-glycoprotein I)) is a protein-coding gene. Diseases associated with APOH include arteriovenous fistula, and middle cerebral artery infarction. GO annotations related to this gene include heparin binding and identical protein binding. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot: APOH_HUMAN, P02749
Function: Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran
sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the
surface of damaged cells

Gene Wiki entry for APOH (Apolipoprotein H) 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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the APOH gene promoter:
         SRF   C/EBPbeta   RFX1   POU2F1   SRF (504 AA)   POU2F1a   POU3F2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPOH promoter sequence
   Search Chromatin IP Primers for APOH

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


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

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24.2

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M064208:  view genomic region     (about GC identifiers)

Start:
64,208,147 bp from pter      End:
64,252,643 bp from pter
Size:
44,497 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: APOH_HUMAN, P02749 (See protein sequence)
Recommended Name: Beta-2-glycoprotein 1 precursor  
Size: 345 amino acids; 38298 Da
Selected PDB 3D structures from and Proteopedia for APOH (see all 7):
1C1Z (3D)        1G4F (3D)        1G4G (3D)        1QUB (3D)        2KRI (3D)        3OP8 (3D)    
Secondary accessions: B2R9M3 Q9UCN7

Explore the universe of human proteins at neXtProt for APOH: NX_P02749

Explore proteomics data for APOH at MOPED

Post-translational modifications: 

  • N- and O-glycosylated. PubMed:6587378 also reports glycosylation on 'Asn-188' for their allele1
  • Glycosylation2 at Thr149, Asn162, Asn183, Asn193, Asn253
  • Modification sites at PhosphoSitePlus

  • See APOH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000033.2  
    ENSEMBL proteins: 
     ENSP00000205948   ENSP00000462260   ENSP00000463553   ENSP00000464301  

    APOH Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for APOH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    APOLIPO: Apolipoproteins

    2 InterPro protein domains:
     IPR000436 Sushi_SCR_CCP
     IPR015104 Sushi_2

    Graphical View of Domain Structure for InterPro Entry P02749

    ProtoNet protein and cluster: P02749

    1 Blocks protein domain: IPB000436 Sushi domain/SCR domain/CCP module

    UniProtKB/Swiss-Prot: APOH_HUMAN, P02749
    Similarity: Contains 4 Sushi (CCP/SCR) domains


    APOH 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: APOH_HUMAN, P02749
    Function: Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran
    sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the
    surface of damaged cells

         Genatlas biochemistry entry for APOH:
    apolipoprotein H (beta-2-glycoprotein I),precursor activator of lipoprotein lipase,cofactor for the binding of
    antianionic phospholipid autoantibodies

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI9269765
    GO:0005515protein binding IPI16480936
    GO:0005543phospholipid binding IDA15486070
    GO:0008201heparin binding IEA--
    GO:0008289lipid binding IDA222615
         
    APOH for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Apoh):
     homeostasis/metabolism  mortality/aging 

    APOH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Apohtm1Krl for APOH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APOH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APOH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APOH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APOH

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    hsa-mir-335-5p (MIRT017373)

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    Sino Biological Human cDNA Clone for APOH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOH


    (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
    APOH_HUMAN, P02749: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus2
    plasma membrane2
    cytosol1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA15486070
    GO:0009986cell surface IDA16480936
    GO:0031012colocalizes with extracellular matrix IDA--
    GO:0034361very-low-density lipoprotein particle IDA222615
    GO:0034364high-density lipoprotein particle IDA222615

    APOH 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 APOH About    
    See pathways by source

    SuperPathContained pathways About
    1Selected targets of HNF1
    Selected targets of HNF1




        Pathway & Disease-focused RT2 Profiler PCR Array including APOH: 
              Cell Lineage Identification in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APOH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for APOH (P027491, 2, 3 ENSP000002059484) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOHP027491, 2EBI-2114682,EBI-2114682 MINT-6743767 MINT-6743776
    ANXA2P073553, ENSP000003460324I2D: score=2 STRING: ENSP00000346032
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    GEMP550403, ENSP000002975964I2D: score=2 STRING: ENSP00000297596
    LPAP085193, ENSP000003213344I2D: score=2 STRING: ENSP00000321334
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001937negative regulation of endothelial cell proliferation IDA17872974
    GO:0006641triglyceride metabolic process IDA7417307
    GO:0007597blood coagulation, intrinsic pathway IDA4052628
    GO:0010596negative regulation of endothelial cell migration IDA17872974
    GO:0016525negative regulation of angiogenesis IDA17872974

    APOH 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 APOH

    Selected HMDB Compounds for APOH (see all 94)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:1(11Z))Cardiolipins(72:4) (see all 14)----
    CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:2(9Z,12Z))Cardiolipins(72:4) (see all 14)----
    CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:1(9Z))Cardiolipin(18:1n9/18:1n9/18:1n9/18:1n9) (see all 14)----
    CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))Cardiolipin(18:1n9/18:1n9/18:1n9/18:1n9) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(11Z)/16:0)Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(11Z)/16:1(9Z))Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(9Z)/16:0)Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(11Z)/18:1(9Z)/16:1(9Z))Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(9Z)/18:1(11Z)/16:0)Cardiolipins(72:5) (see all 14)----
    CL(18:2(9Z,12Z)/18:1(9Z)/18:1(11Z)/16:1(9Z))Cardiolipins(72:5) (see all 14)----

    1 DrugBank Compound for APOH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target----

    Selected Novoseek inferred chemical compound relationships for APOH gene (see all 89)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiolipin 92.7 203 7646462 (5), 1972485 (3), 7586693 (3), 1491401 (3) (see all 99)
    phospholipid 75.5 132 9761718 (3), 9814664 (3), 8115986 (2), 17311864 (2) (see all 84)
    aspirin 67 33 8984925 (2), 1415304 (2), 9381258 (1), 15846729 (1) (see all 27)
    phosphatidylserine 63.4 33 1972485 (2), 10684648 (2), 9063752 (2), 9083311 (1) (see all 19)
    warfarin 62.4 4 8457098 (1), 14728051 (1), 10973677 (1)
    heparin 62 35 8362374 (2), 7878636 (2), 18307901 (2), 8457098 (1) (see all 28)
    homocysteine 55 50 12756475 (1), 16601831 (1), 17116831 (1), 17911191 (1) (see all 45)
    phosphatidylethanolamine 46.9 11 1491401 (2), 9083311 (1), 8926568 (1), 8025204 (1) (see all 8)
    fibrinogen 45.3 33 1815761 (1), 8989971 (1), 9812085 (1), 10726007 (1) (see all 31)
    hydroxychloroquine 41.6 1 16623930 (1)



    APOH 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,
    Conferences by KenesGroup, 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 APOH gene: 
    NM_000042.2  

    Unigene Cluster for APOH:

    Apolipoprotein H (beta-2-glycoprotein I)
    Hs.445358  [show with all ESTs]
    Unigene Representative Sequence: NM_000042
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000205948(uc002jfn.4) ENST00000585162 ENST00000581797 ENST00000577982

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiFast Probe-based Assays in human, mouse, rat APOH

    Additional mRNA sequence: 

    AF082883.1 AK298416.1 AK313838.1 BC020703.1 BC026283.1 HM212425.1 M62839.1 S80305.1 
    X53595.1 X57847.1 X58100.1 

    15 DOTS entries:

    DT.451558  DT.100826207  DT.120969768  DT.100826210  DT.91771189  DT.91771176  DT.120969757  DT.120969758 
    DT.91771187  DT.100826208  DT.120969766  DT.91771196  DT.95298244  DT.95298256  DT.99966864 

    Selected AceView cDNA sequences (see all 499):

    AV660659 BG563256 AV653293 BU072922 AV647260 AV648562 AV647767 AV682110 
    BG566874 BQ632142 AV651031 CA841920 BG569471 W92730 BM311916 BQ786939 
    W95665 AV652946 BG566156 AV655448 CD607230 BU078887 AW014874 BM505272 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for APOH    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                
    SP2:                                                


    ECgene alternative splicing isoforms for APOH

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


    APOH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hepatocytes Liver Lobule
             Liver Lobule
             Hepatocyte-like cells
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Lung (Respiratory System)
    APOH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445358

    UniProtKB/Swiss-Prot: APOH_HUMAN, P02749
    Tissue specificity: Expressed by the liver and secreted in plasma

        Pathway & Disease-focused RT2 Profiler PCR Array including APOH: 
              Cell Lineage Identification in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOH

    (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 chordates.

    Orthologs for APOH gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apoh1 , 5 apolipoprotein H1, 5 78.36(n)1
    76.52(a)1
      11 (71.80 cM)5
    118181  NM_013475.41  NP_038503.41 
     1083433545 
    chicken
    (Gallus gallus)
    Aves APOH1 apolipoprotein H (beta-2-glycoprotein I) 56.85(n)
    46.06(a)
      417431  NM_001277994.1  NP_001264923.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    44(a)
    43(a)
    1 ↔ many
    1 ↔ many
    GL343260.1(380055-398494)
    GL343260.1(401132-410514)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APOH gene
    CSMD12  SELP2  C4BPA2  CR22  SELL2  CSMD32  CR1L2  SELE2  
    CSMD22  CD462  CD552  CR12  SVEP12  
    1 SIMAP similar gene for APOH using alignment to 4 protein entries:     APOH_HUMAN (see all proteins):
    SELP

    APOH 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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    Selected SNPs for APOH (see all 602)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs45811,2,,4
    C,F,Hnon-pathogenic165264683(-) GTAAAG/TTACCT 2 V L mis149Minor allele frequency- T:0.46EA NS NA WA CSA EU 11809
    rs81789241,2
    C,F--64217302(-) AGACAG/AACTCA 1 -- int12Minor allele frequency- A:0.01NS 86
    rs562268221,2
    --64220789(+) GGGAAA/GGGAAG 1 -- int10--------
    rs601397721,2
    C--64222739(+) AAAAA-/ATTGGA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1116343241,2
    F--64223114(+) TCCTGC/TCTCAG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs711605461,2
    C--64226230(-) TTTTT-/TCTTCT 1 -- us2k12Minor allele frequency- T:0.00NA CSA 4
    rs1927086621,2
    --65261607(+) TTGTTG/TGTTTG 1 -- ds50010--------
    rs81788651,2
    C,F--65261608(-) acaaaC/GAAACA 1 -- ds50013Minor allele frequency- G:0.01NS NA 92
    rs680124931,2
    C--65261621(+) GTTTG-/TTTA  
            
    TTTAT
    1 -- ds50010--------
    rs72167131,2
    C,A,H--65261624(+) TGTTTG/ATTTAT 1 -- ds50015Minor allele frequency- A:0.08NA WA 12

    HapMap Linkage Disequilibrium report for APOH (64208147 - 64252643 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for APOH: --
    Human Gene Mutation Database (HGMD): APOH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOH
    DNA2.0 Custom Variant and Variant Library Synthesis for APOH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138700    OMIM disorders: --

    Selected diseases for APOH (see all 212):    
    About MalaCards
    arteriovenous fistula    middle cerebral artery infarction    splenic infarction    subacute delirium
    actinomycosis    bone marrow necrosis    thrombophlebitis    spinal cord infarction
    catastrophic antiphospholipid syndrome    sneddon syndrome    mondor disease    rheumatic disease
    myelitis    retinal vasculitis    breast reconstruction    severe pre-eclampsia
    antiphospholipid syndrome    pregnancy loss    central retinal vein occlusion    retinal vein occlusion

    7 diseases from the University of Copenhagen DISEASES database for APOH:
    Antiphospholipid syndrome     Lupus erythematosus     Connective tissue disease     Syphilis
    Thrombocytopenia     Vascular disease     Thrombophilia

    APOH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for APOH gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    antiphospholipid syndrome 97.6 500 7686561 (4), 1506982 (3), 8608682 (3), 9077618 (3) (see all 99)
    lupus erythematosus systemic 92.2 357 9796352 (4), 9491201 (3), 8303111 (3), 1553941 (3) (see all 99)
    thrombosis 90.2 349 12393574 (7), 1497015 (5), 1418145 (5), 8170264 (4) (see all 99)
    miscarriage recurrent 88.1 71 9207584 (3), 12596957 (3), 2283959 (2), 8567830 (2) (see all 53)
    arterial thrombosis 86.4 44 10870856 (3), 11092466 (3), 9333316 (2), 1398731 (1) (see all 36)
    pregnancy loss 85.4 74 1498338 (4), 9083311 (4), 18307901 (4), 8375525 (4) (see all 51)
    venous thrombosis 84.4 83 1443986 (6), 16409447 (4), 7781279 (3), 8170264 (2) (see all 62)
    thrombophilia 83.4 49 8621985 (2), 11697706 (1), 11843372 (1), 15919499 (1) (see all 46)
    apc resistance 83.2 48 14982257 (2), 8841318 (2), 7578527 (1), 11108774 (1) (see all 46)
    miscarriage 81.5 99 1633897 (5), 8305382 (4), 7675379 (4), 9806576 (3) (see all 66)

    Genatlas disease: APOH
    deficiency of production of apo-H dependent antiphospholipid autoantibody

    Genetic Association Database (GAD): APOH
    Human Genome Epidemiology (HuGE) Navigator: APOH (30 documents)

    Export disorders for APOH 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 APOH gene, integrated from 10 sources (see all 1774):
    (articles sorted by number of sources associating them with APOH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleotide sequence and expression of the human gene encoding apolipoprotein H (beta 2-glycoprotein I). (PubMed id 1748314)1, 2, 9 Mehdi H....Peeples M.E. (Gene 1991)
    2. Identification of structural mutations in the fifth domain of apolipoprotein H (beta-2-glycoprotein I) which affect phospholipid binding. (PubMed id 9063752)1, 2, 9 Sanghera D.K.... Kamboh M.I. (Hum. Mol. Genet. 1997)
    3. Assignment of apolipoprotein H (APOH: beta-2-glycoprotein I) to human chromosome 17q23----qter; determination of the major expression site. (PubMed id 1582254)1, 3, 9 Steinkasserer A....Sim R.B. (Cytogenet. Cell Genet. 1992)
    4. Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA. (PubMed id 18676959)1, 4, 9 Leduc M.S....Hixson J.E. (J. Lipid Res. 2008)
    5. Molecular basis of the apolipoprotein H (beta 2-glycoprotein I) protein polymorphism. (PubMed id 9225969)1, 2, 9 Sanghera D.K.... Kamboh M.I. (Hum. Genet. 1997)
    6. Molecular cloning and sequence analysis of the cDNA encoding human apolipoprotein H (beta 2-glycoprotein I). (PubMed id 1339416)1, 2, 9 Day J.R.... Arnaud P. (Int. J. Clin. Lab. Res. 1992)
    7. Apolipoprotein H genetic variability in the population of Krk Island, Croatia. (PubMed id 12371681)1, 4, 9 Vitale K....Smolej-NaranciA8 N. (Hum. Biol. 2002)
    8. Association between Val/Leu(247) polymorphism of apolipoprotein H and cerebral infarction in a Chinese population. (PubMed id 18777117)1, 4, 9 Xia J....Yang Q.D. (J. Thromb. Thrombolysis 2009)
    9. [The relationship of apolipoprotein H gene polymorphism with stroke]. (PubMed id 12887738)1, 4, 9 Xia J....Zhang L. (Zhonghua Yi Xue Za Zhi 2003)
    10. Apolipoprotein E and H polymorphisms in Mongolian Buryat: allele frequencies and relationship with plasma lipid levels. (PubMed id 12495080)1, 4, 9 Tsunoda K....Sato K. (Hum. Biol. 2002)

    (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: 350 HGNC: 616 AceView: APOH Ensembl:ENSG00000091583 euGenes: HUgn350
    ECgene: APOH H-InvDB: APOH

    (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 APOH Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/apoh/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOH

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

    Licensable Technologies for APOH gene:
    Weizmann Institute:Novel therapy for antiphospholipid syndrome based on b2GPI (beta-2-glycoprotein-I) corresponding synthetic peptides
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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