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Human Gene APOH (ENST00000205948.11) from GENCODE V50
  Description: apolipoprotein H (from RefSeq NM_000042.3)
Gencode Transcript: ENST00000205948.11
Gencode Gene: ENSG00000091583.13
Transcript (Including UTRs)
   Position: hg38 chr17:66,212,033-66,229,415 Size: 17,383 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr17:66,212,133-66,229,379 Size: 17,247 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2026-07-12 09:30:09

-  Comments and Description Text from UniProtKB
  ID: APOH_HUMAN
DESCRIPTION: RecName: Full=Beta-2-glycoprotein 1; AltName: Full=APC inhibitor; AltName: Full=Activated protein C-binding protein; AltName: Full=Anticardiolipin cofactor; AltName: Full=Apolipoprotein H; Short=Apo-H; AltName: Full=Beta-2-glycoprotein I; Short=B2GPI; Short=Beta(2)GPI; Flags: Precursor;
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.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
PTM: N- and O-glycosylated. PubMed:6587378 also reports glycosylation on 'Asn-188' for their allele.
SIMILARITY: Contains 4 Sushi (CCP/SCR) domains.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/apoh/";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOH";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: APOH
Diseases sorted by gene-association score: antiphospholipid syndrome (52), syphilis (34), buerger disease (25), retinal artery occlusion (24), sneddon syndrome (23), retinal vascular occlusion (22), hypersensitivity reaction type ii disease (20), retinal vasculitis (20), catastrophic antiphospholipid syndrome (18), may-thurner syndrome (18), acanthamoeba keratitis (18), subacute delirium (18), hepatic infarction (18), transverse myelitis (18), malignant atrophic papulosis (16), central retinal vein occlusion (16), collagen disease (15), budd-chiari syndrome (15), pregnancy loss, recurrent 1 (15), retinal vein occlusion (15), protein s deficiency (14), intracranial thrombosis (13), spinal cord infarction (13), pulmonary hypertension, neonatal (12), ischemic colitis (12), vasculitis (12), pulmonary embolism (12), splenic infarction (12), hypoprothrombinemia (11), factor xii deficiency (11), thrombophilia due to activated protein c resistance (10), papilledema (10), thrombophilia (10), stroke, ischemic (10), thrombophilia due to thrombin defect (10), myelitis (9), placental abruption (9), placenta disease (9), temporal arteritis (9), peripheral vertigo (9), thrombophlebitis (9), breast reconstruction (9), sjogren's syndrome (9), hypersensitivity reaction disease (9), autoimmune hemolytic anemia (9), systemic lupus erythematosus (8), thrombophilia due to antithrombin iii deficiency (8), thrombosis (8), cerebral sinovenous thrombosis (8), livedoid vasculopathy (8), portal vein thrombosis (8), hellp syndrome (8), carotid artery occlusion (8), borderline leprosy (7), polyarteritis nodosa (7), legg-calve-perthes disease (7), erythema infectiosum (7), arteriovenous fistula (7), connective tissue disease (7), infective endocarditis (7), endocarditis (6), atrichia with papular lesions (6), purpura (6), viral exanthem (6), thrombotic thrombocytopenic purpura, acquired (6), acrocallosal syndrome (6), intermittent claudication (6), lateral medullary syndrome (6), immune system disease (5), rheumatic disease (5), severe pre-eclampsia (5), preeclampsia/eclampsia 1 (5), pyoderma (5), intracranial hypertension (5), discoid lupus erythematosus (5), branch retinal artery occlusion (5), thrombocytopenia (5), ischemic optic neuropathy (5), patent foramen ovale (5), lupus erythematosus (4), amyotrophic lateral sclerosis type 10 (4), behcet syndrome (4), vascular disease (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1914.58 RPKM in Liver
Total median expression: 1923.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.3036-0.203 Picture PostScript Text
3' UTR -15.90100-0.159 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016060 - Complement_control_module
IPR015104 - Sushi_2
IPR000436 - Sushi_SCR_CCP

Pfam Domains:
PF00084 - Sushi repeat (SCR repeat)
PF09014 - Beta-2-glycoprotein-1 fifth domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1C1Z - X-ray 1G4F - NMR MuPIT 1G4G - NMR MuPIT 1QUB - X-ray 2KRI - NMR MuPIT 3OP8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02749
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008201 heparin binding
GO:0008289 lipid binding
GO:0042802 identical protein binding
GO:0060230 lipoprotein lipase activator activity

Biological Process:
GO:0001937 negative regulation of endothelial cell proliferation
GO:0002576 platelet degranulation
GO:0006641 triglyceride metabolic process
GO:0007597 blood coagulation, intrinsic pathway
GO:0010596 negative regulation of endothelial cell migration
GO:0016525 negative regulation of angiogenesis
GO:0030193 regulation of blood coagulation
GO:0030194 positive regulation of blood coagulation
GO:0030195 negative regulation of blood coagulation
GO:0031639 plasminogen activation
GO:0033033 negative regulation of myeloid cell apoptotic process
GO:0034197 triglyceride transport
GO:0034392 negative regulation of smooth muscle cell apoptotic process
GO:0051006 positive regulation of lipoprotein lipase activity
GO:0051917 regulation of fibrinolysis
GO:0051918 negative regulation of fibrinolysis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0009986 cell surface
GO:0031012 extracellular matrix
GO:0031089 platelet dense granule lumen
GO:0034361 very-low-density lipoprotein particle
GO:0034364 high-density lipoprotein particle
GO:0042627 chylomicron
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  HZ170980 - WO 2015108162-A/3541: Nucleic Acids for inhibiting Expression of beta-2GPI.
LV518059 - WO 2017010573-A/3541: RNAi PHARMACEUTICAL COMPOSITION FOR SUPPRESSING EXPRESSION OF beta-2GPI GENE.
LV521932 - WO 2017010575-A/3541: OLIGONUCLEOTIDE CONJUGATE FOR SUPPRESSING EXPRESSION OF beta-2GPI GENE.
LY399940 - KR 1020160108494-A/3541: NUCLEIC ACID CAPABLE OF INHIBITING EXPRESSION OF beta2GPI.
MA427199 - JP 2018150239-A/3541: RNAi PHARMACEUTICAL COMPOSITION FOR SUPPRESSING EXPRESSION OF beta-2GPI GENE.
BC026283 - Homo sapiens apolipoprotein H (beta-2-glycoprotein I), mRNA (cDNA clone MGC:23898 IMAGE:4734357), complete cds.
AK298416 - Homo sapiens cDNA FLJ51265 complete cds, moderately similar to Beta-2-glycoprotein 1 precursor (Beta-2-glycoprotein I).
X57847 - H.sapiens ApoH mRNA for apolipoprotein H (beta2-glycoprotein I).
M62839 - Human apolipoprotein H mRNA, complete cds.
X53595 - Human mRNA for beta-2-glycoprotein I (apolipoprotein H).
BC020703 - Homo sapiens apolipoprotein H (beta-2-glycoprotein I), mRNA (cDNA clone MGC:22465 IMAGE:4767966), complete cds.
X58100 - Human APOH mRNA for beta-2-glycoprotein I apolipoprotein H.
S80305 - beta 2-glycoprotein I [human, HepG2 hepatoma cell line, mRNA, 1145 nt].
HM212425 - Homo sapiens isolate 1 beta-2-glycoprotein I mRNA, partial cds.
GQ891331 - Homo sapiens clone HEL-S-102d epididymis secretory sperm binding protein mRNA, complete cds.
AK313838 - Homo sapiens cDNA, FLJ94463, highly similar to Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.
KJ890690 - Synthetic construct Homo sapiens clone ccsbBroadEn_00084 APOH gene, encodes complete protein.
KR711260 - Synthetic construct Homo sapiens clone CCSBHm_00021932 APOH (APOH) mRNA, encodes complete protein.
KR711261 - Synthetic construct Homo sapiens clone CCSBHm_00021933 APOH (APOH) mRNA, encodes complete protein.
DQ891362 - Synthetic construct clone IMAGE:100003992; FLH176236.01X; RZPDo839B01122D apolipoprotein H (beta-2-glycoprotein I) (APOH) gene, encodes complete protein.
DQ894542 - Synthetic construct Homo sapiens clone IMAGE:100009002; FLH176232.01L; RZPDo839B01121D apolipoprotein H (beta-2-glycoprotein I) (APOH) gene, encodes complete protein.
AB527858 - Synthetic construct DNA, clone: pF1KB6440, Homo sapiens APOH gene for apolipoprotein H, without stop codon, in Flexi system.
CU693198 - Synthetic construct Homo sapiens gateway clone IMAGE:100022179 5' read APOH mRNA.
AF082883 - Homo sapiens beta-2-glycoprotein I precursor, mRNA sequence.
MA858104 - WO 2019027009-A/3541: Nucleic acid complexes.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P02749 (Reactome details) participates in the following event(s):

R-HSA-481009 Exocytosis of platelet dense granule content
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: APOH_HUMAN, B2G1, B2R9M3, ENST00000205948.1, ENST00000205948.10, ENST00000205948.2, ENST00000205948.3, ENST00000205948.4, ENST00000205948.5, ENST00000205948.6, ENST00000205948.7, ENST00000205948.8, ENST00000205948.9, NM_000042, P02749, Q9UCN7, uc002jfn.1, uc002jfn.2, uc002jfn.3, uc002jfn.4, uc002jfn.5, uc002jfn.6
UCSC ID: ENST00000205948.11
RefSeq Accession: NM_000042.3
Protein: P02749 (aka APOH_HUMAN)
CCDS: CCDS11663.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.