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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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.
|
|
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 |
|