Gene Gene information from NCBI Gene database.
Entrez ID 350
Gene name Apolipoprotein H
Gene symbol APOH
Synonyms (NCBI Gene)
B2G1B2GP1BG
Chromosome 17
Chromosome location 17q24.2
Summary 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 antiphos
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs398124629 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
138
miRTarBase ID miRNA Experiments Reference
MIRT017373 hsa-miR-335-5p Microarray 18185580
MIRT621471 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT621470 hsa-miR-764 HITS-CLIP 23824327
MIRT621469 hsa-miR-3934-5p HITS-CLIP 23824327
MIRT650871 hsa-miR-3653-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 17872974
GO:0005515 Function Protein binding IPI 9269765, 16480936, 19805618, 20223219, 32759297, 32814053
GO:0005543 Function Phospholipid binding IDA 15486070
GO:0005576 Component Extracellular region HDA 20551380
GO:0005576 Component Extracellular region HDA 27068509, 27559042
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138700 616 ENSG00000091583
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02749
Protein name Beta-2-glycoprotein 1 (APC inhibitor) (Activated protein C-binding protein) (Anticardiolipin cofactor) (Apolipoprotein H) (Apo-H) (Beta-2-glycoprotein I) (B2GPI) (Beta(2)GPI)
Protein 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.
PDB 1C1Z , 1G4F , 1G4G , 1QUB , 2KRI , 3OP8 , 4JHS , 6V06 , 6V08 , 6V09 , 6XSD , 6XST , 7JIK , 7KG4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 23 79 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 81 137 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 142 200 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 205 260 Sushi repeat (SCR repeat) Domain
PF09014 Sushi_2 261 345 Beta-2-glycoprotein-1 fifth domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 345
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholesterol metabolism   Platelet degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTIPHOSPHOLIPID SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APOH POLYMORPHISM Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIAL OCCLUSIVE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Abortion Habitual Associate 37243946
★☆☆☆☆
Found in Text Mining only
Abortion Spontaneous Associate 37243946
★☆☆☆☆
Found in Text Mining only
Acute Aortic Syndrome Associate 32256857
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 35011591
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Associate 10025920, 10366111, 10446865, 10643701, 11535526, 11711550, 11895785, 12235181, 12437660, 12571857, 12648080, 12871461, 15641049, 16472380, 17195232
View all (23 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome Stimulate 12531807, 12780700, 26264622
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Associate 20377996
★☆☆☆☆
Found in Text Mining only
Atrophy Associate 35755170
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Stimulate 24174712
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Associate 10792380, 12437660, 19132787, 23279374, 9861005
★☆☆☆☆
Found in Text Mining only