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APOH (apolipoprotein H)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
350
Gene nameGene Name - the full gene name approved by the HGNC.
Apolipoprotein H
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
APOH
SynonymsGene synonyms aliases
B2G1, B2GP1, BG
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.2
SummarySummary of gene provided in NCBI Entrez 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 antiphos
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs398124629 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 17872974
GO:0002576 Process Platelet degranulation TAS
GO:0005515 Function Protein binding IPI 9269765, 16480936, 19805618, 20223219, 32814053
GO:0005543 Function Phospholipid binding IDA 15486070
GO:0005576 Component Extracellular region HDA 27068509
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
Sequence length 345
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Cholesterol metabolism   Platelet degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 24482440
Unknown
Disease name Disease term dbSNP ID References
Antiphospholipid syndrome Antiphospholipid Syndrome 10446865

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