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Aliases for APOH Gene

Aliases for APOH Gene

  • Apolipoprotein H 2 3 4 5
  • Apolipoprotein H (Beta-2-Glycoprotein I) 2 3
  • Activated Protein C-Binding Protein 3 4
  • Anticardiolipin Cofactor 3 4
  • Beta-2-Glycoprotein I 2 4
  • APC Inhibitor 3 4
  • Beta(2)GPI 3 4
  • Apo-H 3 4
  • B2GPI 3 4
  • B2G1 3 4
  • Beta-2-Glycoprotein 1 3
  • B2GP1 3
  • BG 3

External Ids for APOH Gene

Previous HGNC Symbols for APOH Gene

  • B2G1

Previous GeneCards Identifiers for APOH Gene

  • GC17P064187
  • GC17P067253
  • GC17M064625
  • GC17M064758
  • GC17M061638
  • GC17M064208
  • GC17M059599

Summaries for APOH Gene

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) is a Protein Coding gene. Diseases associated with APOH include Antiphospholipid Syndrome and Buerger Disease. Among its related pathways are Platelet activation, signaling and aggregation. GO annotations related to this gene include identical protein binding and heparin binding. An important paralog of this gene is CFH.

UniProtKB/Swiss-Prot for APOH Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOH Gene

Genomics for APOH Gene

Regulatory Elements for APOH Gene

Enhancers for APOH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around APOH on UCSC Golden Path with GeneCards custom track

Genomic Location for APOH Gene

Chromosome:
17
Start:
66,212,029 bp from pter
End:
66,256,525 bp from pter
Size:
44,497 bases
Orientation:
Minus strand

Genomic View for APOH Gene

Genes around APOH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOH Gene

Proteins for APOH Gene

  • Protein details for APOH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02749-APOH_HUMAN
    Recommended name:
    Beta-2-glycoprotein 1
    Protein Accession:
    P02749
    Secondary Accessions:
    • B2R9M3
    • Q9UCN7

    Protein attributes for APOH Gene

    Size:
    345 amino acids
    Molecular mass:
    38298 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for APOH Gene

neXtProt entry for APOH Gene

Post-translational modifications for APOH Gene

  • N- and O-glycosylated. PubMed:6587378 also reports glycosylation on Asn-188 for their allele.
  • Glycosylation at Thr 33, Thr 149, Asn 162, Asn 183, Asn 193, and Asn 253
  • Modification sites at PhosphoSitePlus

Other Protein References for APOH Gene

Antibody Products

  • R&D Systems Antibodies for APOH (Apolipoprotein H/ApoH)

No data available for DME Specific Peptides for APOH Gene

Domains & Families for APOH Gene

Gene Families for APOH Gene

Protein Domains for APOH Gene

Suggested Antigen Peptide Sequences for APOH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02749

UniProtKB/Swiss-Prot:

APOH_HUMAN :
  • Contains 4 Sushi (CCP/SCR) domains.
Domain:
  • Contains 4 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with APOH: view

Function for APOH Gene

Molecular function for APOH Gene

GENATLAS Biochemistry:
apolipoprotein H (beta-2-glycoprotein I),precursor activator of lipoprotein lipase,cofactor for the binding of antianionic phospholipid autoantibodies
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for APOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 9269765
GO:0005515 protein binding IPI 9269765
GO:0005543 phospholipid binding IDA 15486070
GO:0008201 heparin binding IEA --
GO:0008289 lipid binding IDA 222615
genes like me logo Genes that share ontologies with APOH: view
genes like me logo Genes that share phenotypes with APOH: view

Animal Models for APOH Gene

MGI Knock Outs for APOH:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for APOH

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APOH Gene

Localization for APOH Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOH Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOH Gene COMPARTMENTS Subcellular localization image for APOH gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for APOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 15486070
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IDA 16480936
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with APOH: view

Pathways & Interactions for APOH Gene

genes like me logo Genes that share pathways with APOH: view

Gene Ontology (GO) - Biological Process for APOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001937 negative regulation of endothelial cell proliferation IDA 17872974
GO:0002576 platelet degranulation TAS --
GO:0006641 triglyceride metabolic process IDA 7417307
GO:0007568 aging IEA --
GO:0007597 blood coagulation, intrinsic pathway IDA 4052628
genes like me logo Genes that share ontologies with APOH: view

No data available for SIGNOR curated interactions for APOH Gene

Drugs & Compounds for APOH Gene

(42) Drugs for APOH Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
LJP 1082 Investigational Pharma Target 0

(143) Additional Compounds for APOH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:1(11Z))
  • 1'-[1,2-Divaccenoyl-rac-glycero-3-phospho],3'-[1,2-divaccenoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(11Z)/18:1(11Z)],3'-[18:1(11Z)/18:1(11Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:1(11Z)/18:1(11Z)/18:1(11Z)/18:2(9Z,12Z))
  • 1'-[1,2-Divaccenoyl-rac-glycero-3-phospho],3'-[1,2-divaccenoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(11Z)/18:1(11Z)],3'-[18:1(11Z)/18:1(11Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:1(9Z))
  • 1'-[1,2-Dioleoyl-rac-glycero-3-phospho],3'-[1,2-dioleoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(9Z)/18:1(9Z)],3'-[18:1(9Z)/18:1(9Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:1(9Z)/18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))
  • 1'-[1,2-Dioleoyl-rac-glycero-3-phospho],3'-[1,2-dioleoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:1/18:1/18:1/18:1)
  • Cardiolipin(72:4)
  • CL(1'-[18:1(9Z)/18:1(9Z)],3'-[18:1(9Z)/18:1(9Z)])
  • CL(18:1/18:1/18:1/18:1)
CL(18:2(9Z,12Z)/18:1(11Z)/18:1(11Z)/16:0)
  • 1'-[1-Linoleoyl-2-vaccenoyl-sn-glycero-3-phospho],3'-[1,2-divaccenoyl-rac-glycero-3-phospho]-glycerol
  • Cardiolipin(18:2/18:1/18:1/18:1)
  • Cardiolipin(18:2n6/18:1n7/18:1n7/18:1n7)
  • Cardiolipin(18:2w6/18:1w7/18:1w7/18:1w7)
  • Cardiolipin(72:5)
genes like me logo Genes that share compounds with APOH: view

Transcripts for APOH Gene

mRNA/cDNA for APOH Gene

Unigene Clusters for APOH Gene

Apolipoprotein H (beta-2-glycoprotein I):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for APOH

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOH Gene

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

Relevant External Links for APOH Gene

GeneLoc Exon Structure for
APOH
ECgene alternative splicing isoforms for
APOH

Expression for APOH Gene

mRNA expression in normal human tissues for APOH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOH Gene

This gene is overexpressed in Liver (x52.6).

Protein differential expression in normal tissues from HIPED for APOH Gene

This gene is overexpressed in Serum (21.7), Plasma (9.3), and Vitreous humor (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APOH Gene



Protein tissue co-expression partners for APOH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APOH Gene:

APOH

SOURCE GeneReport for Unigene cluster for APOH Gene:

Hs.445358

mRNA Expression by UniProt/SwissProt for APOH Gene:

P02749-APOH_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.
genes like me logo Genes that share expression patterns with APOH: view

Primer Products

Orthologs for APOH Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APOH 34
  • 80.97 (n)
  • 81.16 (a)
APOH 35
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APOH 34
  • 86.67 (n)
  • 81.74 (a)
APOH 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apoh 34
  • 78.36 (n)
  • 76.52 (a)
Apoh 16
Apoh 35
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia APOH 34
  • 99.52 (n)
  • 99.42 (a)
APOH 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apoh 34
  • 81.16 (n)
  • 82.32 (a)
oppossum
(Monodelphis domestica)
Mammalia APOH 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOH 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOH 34
  • 56.85 (n)
  • 46.06 (a)
APOH 35
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 44 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 5 (a)
OneToMany
Species where no ortholog for APOH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for APOH Gene

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

Paralogs for APOH Gene

Paralogs for APOH Gene

(1) SIMAP similar genes for APOH Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with APOH: view

Variants for APOH Gene

Sequence variations from dbSNP and Humsavar for APOH Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs4581 - 66,214,639(-) GTAAA(G/T)TACCT reference, missense
rs1801692 - 66,226,046(-) GATCA(A/G)TTTTT reference, missense
rs1801689 - 66,214,462(-) CCAAA(C/G/T)GCTTC reference, missense
rs1801690 - 66,212,167(-) TTTTT(C/G)GAAAA reference, missense
rs8178847 - 66,220,697(-) ACTTC(A/G)TGTTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for APOH Gene

Variant ID Type Subtype PubMed ID
nsv1120054 OTHER inversion 24896259
nsv474024 CNV novel sequence insertion 20440878

Variation tolerance for APOH Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.57; 72.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APOH Gene

Human Gene Mutation Database (HGMD)
APOH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOH Gene

Disorders for APOH Gene

MalaCards: The human disease database

(58) MalaCards diseases for APOH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
antiphospholipid syndrome
  • acromegaloid facial appearance syndrome
buerger disease
  • thromboangiitis obliterans
sneddon syndrome
  • idiopathic livedo reticularis with systemic involvement
catastrophic antiphospholipid syndrome
  • catastrophic antiphospholipid antibody syndrome
may-thurner syndrome
  • iliocaval compression syndrome
- elite association - COSMIC cancer census association via MalaCards
Search APOH in MalaCards View complete list of genes associated with diseases

Genatlas disease for APOH Gene

deficiency of production of apo-H dependent antiphospholipid autoantibody

Relevant External Links for APOH

Genetic Association Database (GAD)
APOH
Human Genome Epidemiology (HuGE) Navigator
APOH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOH
genes like me logo Genes that share disorders with APOH: view

No data available for UniProtKB/Swiss-Prot for APOH Gene

Publications for APOH Gene

  1. Association between Val/Leu(247) polymorphism of apolipoprotein H and cerebral infarction in a Chinese population. (PMID: 18777117) Xia J. … Yang Q.D. (J. Thromb. Thrombolysis 2009) 3 22 46 65
  2. Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA. (PMID: 18676959) Leduc M.S. … Hixson J.E. (J. Lipid Res. 2008) 3 22 46 65
  3. Val/Leu247 and Trp/Ser316 polymorphisms in beta 2 glycoprotein I and their association with thrombosis in unselected Chilean patients. (PMID: 16724168) Palomo I. … Pierangeli S. (Clin. Rheumatol. 2007) 3 22 46 65
  4. Apolipoprotein H gene polymorphisms and risk of primary cerebral hemorrhage in a Chinese population. (PMID: 14707422) Xia J. … Cao G.F. (Cerebrovasc. Dis. 2004) 3 22 46 65
  5. Population genetics of apolipoproteins A-IV, E, and H, and the angiotensin converting enzyme (ACE): associations with lipids, and apolipoprotein levels in American Samoans. (PMID: 15252864) Crews D.E. … Kamboh M.I. (Am. J. Phys. Anthropol. 2004) 3 22 46 65

Products for APOH Gene

Sources for APOH Gene

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