APOH Gene - Apolipoprotein H
Apolipoprotein H (APOH) is a plasma glycoprotein involved in lipid metabolism, coagulation, and autoimmune disease.
Gene Information Card
| Symbol | APOH |
|---|---|
| Full Name | Apolipoprotein H |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 350 ncbi.nlm.nih.gov/gene/350 |
| Ensembl ID | ENSG00000167996 |
| UniProt ID | P02749 |
| OMIM ID | 138700 |
| HGNC ID | 616 |
| Aliases | B2GPI, B2GP1, BG, beta-2-glycoprotein I |
Description
APOH (apolipoprotein H) encodes a 50 kDa plasma glycoprotein known as beta-2-glycoprotein I. It binds to negatively charged phospholipids and plays a role in coagulation, lipid metabolism, and the clearance of apoptotic cells. APOH is a major autoantigen in antiphospholipid syndrome (APS), where antibodies against the protein increase thrombosis risk. The gene spans approximately 18 kb on chromosome 17q24.2 and contains 8 exons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Antiphospholipid Syndrome (APS) | Autoantibodies against APOH (beta-2-glycoprotein I) disrupt coagulation regulation, promoting thrombosis. | ClinVar, OMIM |
| Thrombosis | APOH mutations or autoantibodies alter binding to phospholipids, increasing clot formation risk. | NCBI Gene, OMIM |
| Systemic Lupus Erythematosus (SLE) | APOH autoantibodies are frequently detected in SLE patients, contributing to vascular complications. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 82.1 | High |
| Adipose tissue | 12.3 | Low |
| Kidney | 8.5 | Low |
| Lung | 6.2 | Low |
| Heart | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 95.0 | Hepatocyte cell line, high expression |
| Huh-7 | 88.3 | Hepatocyte cell line |
| A549 | 2.1 | Lung carcinoma, low expression |
| HEK293 | 1.5 | Embryonic kidney, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.812G>A (p.Trp271Ter) | Nonsense | <0.01% | Premature truncation, loss of function |
| c.1060C>T (p.Arg354Cys) | Missense | <0.01% | Altered phospholipid binding, associated with thrombosis |
| c.1192G>A (p.Val398Met) | Missense | <0.01% | Reduced anticoagulant activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp271Ter) lead to truncated protein lacking phospholipid-binding domains, impairing coagulation regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for APOH.
View complete mutation data：
Gene Ontology (GO)
| • lipid transporter activity (GO:0005319) | • heparin binding (GO:0008201) |
| • platelet activation (GO:0030168) | • negative regulation of coagulation (GO:0050750) |
| • plasma membrane (GO:0005886) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Platelet activation (KEGG: hsa04611)
Protein Summary
Apolipoprotein H (APOH) is a 326-amino-acid glycoprotein synthesized primarily in the liver. It consists of five short consensus repeats (SCRs) that mediate binding to anionic phospholipids, heparin, and cell surfaces. APOH circulates in plasma at ~200 μg/mL and functions as a cofactor for antiphospholipid antibodies. It inhibits contact activation of coagulation and promotes clearance of apoptotic cells. Post-translational modifications include N-glycosylation at four sites, which influence antigenicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOH Knockout HEK293 Cell Line | EDJ-KQ2394 | Human | 350 | Details Get a Quote |
| APOH Knockout A-549 Cell Line | EDJ-KQ22882 | Human | 350 | Details Get a Quote |
| APOH Knockout HeLa Cell Line | EDJ-KQ52640 | Human | 350 | Details Get a Quote |
| APOH Knockout HCT 116 Cell Line | EDJ-KQ69601 | Human | 350 | Details Get a Quote |
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