Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibod... See more...

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 1 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
  • Epididymis Secretory Sperm Binding Protein 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, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, 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 (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]

GeneCards Summary for APOH Gene

APOH (Apolipoprotein H) is a Protein Coding gene. Diseases associated with APOH include Antiphospholipid Syndrome and Syphilis. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Statin Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and heparin binding. An important paralog of this gene is CSMD3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for APOH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOH Gene

Genomics for APOH Gene

GeneHancer (GH) Regulatory Elements for APOH Gene

Promoters and enhancers for APOH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J066229 Promoter/Enhancer 1.2 EPDnew ENCODE 500.3 +26.9 26934 1.2 FOXK2 POLR2G NCOR1 KDM6A TCF7 CUX1 ZBTB25 SMARCC2 TEAD1 TBX3 APOH PRKCA HSALNG0118233
GH17J066255 Enhancer 1.1 Ensembl ENCODE dbSUPER 500.7 +0.9 925 1.6 ZBTB40 ZNF217 CTCF ZSCAN5C REST CUX1 MYC RAD21 TRIM22 TEAD1 APOH HELZ HSALNG0118233
GH17J066190 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 +65.0 64965 2.7 HNRNPK ZBTB40 ZNF217 EP300 POLR2G PHF8 ZIC2 POLR2A ZBTB10 ZBTB26 CEP112 lnc-CEP112-1 APOH RF00017-2507
GH17J066200 Enhancer 1.2 Ensembl ENCODE 11.7 +55.5 55539 0.8 FOXK2 ZNF217 CTCF NRF1 TCF12 MYC USF1 BCLAF1 PHB2 TEAD4 APOH PRKCA PSMD7P1 HSALNG0118233
GH17J066506 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.1 -252.5 -252476 5.2 ZNF217 ZSCAN5C TCF12 BCLAF1 RBAK JUND FOS ZNF639 ZNF10 ZBTB5 HELZ APOH PRKCA piR-45035-093 FJ601684-189
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOH

Top Transcription factor binding sites by QIAGEN in the APOH gene promoter:
  • C/EBPbeta
  • Evi-1
  • POU2F1
  • POU2F1a
  • POU3F2
  • RFX1
  • SRF
  • SRF (504 AA)

Genomic Locations for APOH Gene

Genomic Locations for APOH Gene
chr17:66,212,029-66,256,525
(GRCh38/hg38)
Size:
44,497 bases
Orientation:
Minus strand
chr17:64,208,147-64,252,643
(GRCh37/hg19)
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 Thr33, Thr149, Asn162, Asn183, Asn193, and Asn253
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • APOH_HUMAN (678)

Other Protein References for APOH Gene

No data available for DME Specific Peptides for APOH Gene

Domains & Families for APOH Gene

Gene Families for APOH Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for APOH Gene

Blocks:
  • Sushi domain/SCR domain/CCP module
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOH Gene

GenScript: Design optimal peptide antigens:
  • Beta-2-glycoprotein I (APOH_HUMAN)
genes like me logo Genes that share domains with APOH: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for APOH Gene

Function for APOH Gene

Molecular function for APOH Gene

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.
GENATLAS Biochemistry:
apolipoprotein H (beta-2-glycoprotein I),precursor activator of lipoprotein lipase,cofactor for the binding of antianionic phospholipid autoantibodies

Phenotypes From GWAS Catalog for APOH Gene

Gene Ontology (GO) - Molecular Function for APOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9269765
GO:0005543 phospholipid binding IDA 15486070
GO:0008201 heparin binding IEA --
GO:0008289 lipid binding IDA 222615
GO:0042802 identical protein binding IPI 18822289
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOH

Clone Products

  • Addgene plasmids for APOH

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOH gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APOH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space IDA,IEA 15486070
GO:0009986 cell surface IDA 16480936
GO:0031089 platelet dense granule lumen TAS --
GO:0034361 very-low-density lipoprotein particle IDA 222615
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

Pathways by source for APOH Gene

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:0007597 blood coagulation, intrinsic pathway IDA 4052628
GO:0010596 negative regulation of endothelial cell migration IDA 17872974
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

(45) Drugs for APOH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 236
mannose Investigational Pharma 0
LJP 1082 Investigational Pharma Target 0

(139) 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))
  • 1,1'2,2'-Tetraoleoyl cardiolipin
  • 1,1'2,2'-Tetraoleoylcardiolipin
  • 1,1'2,2'-Tetraoleyl cardiolipin
  • 1,1'2,2'-Tetraoleylcardiolipin
  • Tetraoleoyl cardiolipin
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

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOH

Clone Products

  • Addgene plasmids for APOH

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

Expression for APOH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for APOH Gene



Protein tissue co-expression partners for APOH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for APOH Gene

  • Liver(5)
  • Nervous system(4.3)
  • Bone marrow(4)
  • Saliva(4)
  • Blood(3)
  • Pancreas(3)
  • Heart(2.8)
  • Kidney(2.5)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with APOH: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APOH Gene

Orthologs for APOH Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOH 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APOH 31 30
  • 86.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apoh 30
  • 81.16 (n)
cow
(Bos Taurus)
Mammalia APOH 31 30
  • 80.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Apoh 17 31 30
  • 78.36 (n)
oppossum
(Monodelphis domestica)
Mammalia APOH 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOH 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOH 31 30
  • 56.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 44 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for APOH: view image

Paralogs for APOH Gene

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

  • APOH_HUMAN
  • J3KS17_HUMAN
  • J3QLI0_HUMAN
  • J3QRN2_HUMAN
genes like me logo Genes that share paralogs with APOH: view

Variants for APOH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOH Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
733532 Benign: not provided 66,223,717(-) C/T SYNONYMOUS_VARIANT
771498 Benign: not provided 66,228,037(-) T/C MISSENSE_VARIANT
780447 Benign: not provided 66,220,679(-) G/T MISSENSE_VARIANT
780448 Benign: not provided 66,226,018(-) A/C INTRON_VARIANT
780449 Benign: not provided 66,229,308(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for APOH Gene

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)

Additional Variant Information for APOH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for APOH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
antiphospholipid syndrome
  • acromegaloid facial appearance syndrome
syphilis
  • syphilitic chancre
retinal artery occlusion
buerger disease
  • thromboangiitis obliterans
sneddon syndrome
  • sndns
- 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

Additional Disease Information for APOH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 QD (Journal of thrombosis and thrombolysis 2009) 3 23 41 54
  2. Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA. (PMID: 18676959) Leduc MS … Hixson JE (Journal of lipid research 2008) 3 23 41 54
  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 (Clinical rheumatology 2007) 3 23 41 54
  4. 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 DE … Kamboh MI (American journal of physical anthropology 2004) 3 23 41 54
  5. Apolipoprotein H gene polymorphisms and risk of primary cerebral hemorrhage in a Chinese population. (PMID: 14707422) Xia J … Cao GF (Cerebrovascular diseases (Basel, Switzerland) 2004) 3 23 41 54

Products for APOH Gene

Sources for APOH Gene