Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	350
Gene name Gene Name - the full gene name approved by the HGNC.	Apolipoprotein H
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	APOH
Synonyms (NCBI Gene) Gene synonyms aliases	B2G1, B2GP1, BG
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q24.2
Summary Summary 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

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398124629	T>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(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
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
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
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT634105	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT634104	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT634103	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT634102	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT634101	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT634100	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT634099	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT634098	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT634097	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT634096	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT634095	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT634094	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT634093	hsa-miR-302e	HITS-CLIP	23824327
MIRT634092	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT634091	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT634090	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT634089	hsa-miR-520b	HITS-CLIP	23824327
MIRT634088	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT634087	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT634086	hsa-miR-520e	HITS-CLIP	23824327
MIRT634085	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT634084	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT634083	hsa-miR-520h	HITS-CLIP	23824327
MIRT634082	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT634081	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT634080	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT634079	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT634078	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT634077	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
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
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
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
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT634105	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT634104	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT634103	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT634102	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT634101	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT634100	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT634099	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT634098	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT634097	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT634096	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT634095	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT634094	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT634093	hsa-miR-302e	HITS-CLIP	23824327
MIRT634092	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT634091	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT634090	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT634089	hsa-miR-520b	HITS-CLIP	23824327
MIRT634088	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT634087	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT634086	hsa-miR-520e	HITS-CLIP	23824327
MIRT634085	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT634084	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT634083	hsa-miR-520h	HITS-CLIP	23824327
MIRT634082	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT634081	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT634080	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT634079	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT634078	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT634077	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT790067	hsa-miR-4504	CLIP-seq
MIRT790068	hsa-miR-542-3p	CLIP-seq
MIRT790069	hsa-miR-595	CLIP-seq

Show/Hide all(33)

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
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IDA	15486070
GO:0006641	Process	Triglyceride metabolic process	IDA	7417307
GO:0007597	Process	Blood coagulation, intrinsic pathway	IDA	4052628
GO:0008201	Function	Heparin binding	IEA
GO:0008289	Function	Lipid binding	IDA	222615
GO:0009986	Component	Cell surface	IDA	16480936
GO:0010596	Process	Negative regulation of endothelial cell migration	IDA	17872974
GO:0016525	Process	Negative regulation of angiogenesis	IDA	17872974
GO:0030194	Process	Positive regulation of blood coagulation	TAS	16480936
GO:0030195	Process	Negative regulation of blood coagulation	IDA	4052628
GO:0031089	Component	Platelet dense granule lumen	TAS
GO:0031639	Process	Plasminogen activation	IDA	16480936
GO:0033033	Process	Negative regulation of myeloid cell apoptotic process	IDA	15534879
GO:0034197	Process	Triglyceride transport	ISS	7078428
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	222615
GO:0034364	Component	High-density lipoprotein particle	IDA	222615
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IDA	15534879
GO:0042627	Component	Chylomicron	IDA	222615
GO:0042802	Function	Identical protein binding	IPI	18822289
GO:0051006	Process	Positive regulation of lipoprotein lipase activity	IDA	7417307
GO:0051917	Process	Regulation of fibrinolysis	IDA	16480936
GO:0051918	Process	Negative regulation of fibrinolysis	IDA	14726399
GO:0060230	Function	Lipoprotein lipase activator activity	IDA	7417307
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27559042
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
138700	616	ENSG00000091583

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

Tissue specificity

TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.

Sequence

MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGEEITYSCKPGYVSRGG
MRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTFEYPNTISFSCNTGFYLNGAD
SAKCTEEGKWSPELPVCAPIICPPPSIPTFATLRVYKPSAGNNSLYRDTAVFECLPQHAM
FGNDTITCTTHGNWTKLPECREVKCPFPSRPDNGFVNYPAKPTLYYKDKATFGCHDGYSL
DGPEEIECTKLGNWSAMPSCKASCKVPVKKATVVYQGERVKIQEKFKNGMLHGDKVSFFC
KNKEKKCSYTEDAQCIDGTIEVPKCFKEHSSLAFWKTDASDVKPC

Sequence length

345

Interactions

View interactions

	KEGG		Reactome
	Cholesterol metabolism		Platelet degranulation

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	24482440

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Coronary artery disease	Coronary artery disease	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (77)

Disease Name	Relationship Type	References
Associations from Text Mining
Abortion Habitual	Associate	37243946
Abortion Spontaneous	Associate	37243946
Acute Aortic Syndrome	Associate	32256857
Alzheimer Disease	Associate	35011591
Antiphospholipid Syndrome	Associate	10025920, 10366111, 10446865, 10643701, 11535526, 11711550, 11895785, 12235181, 12437660, 12571857, 12648080, 12871461, 15641049, 16472380, 17195232 View all (23 more)
Antiphospholipid Syndrome	Stimulate	12531807, 12780700, 26264622
Atherosclerosis	Associate	20377996
Atrophy	Associate	35755170
Autism Spectrum Disorder	Stimulate	24174712
Autoimmune Diseases	Associate	10792380, 12437660, 19132787, 23279374, 9861005
Behcet Syndrome	Associate	34040049
Blood Coagulation Disorders	Associate	34232570
Blood Platelet Disorders	Inhibit	18654666, 23578283
Blood Platelet Disorders	Associate	34107171
Carcinogenesis	Inhibit	39291803
Carcinoma Hepatocellular	Associate	14984368, 17659677
Cardiovascular Diseases	Associate	19132787
Carotid Artery Diseases	Associate	20377996
Carotid Artery Thrombosis	Associate	12571857
Carotid Stenosis	Associate	19132787
Central Nervous System Diseases	Associate	9933445
Cerebral Infarction	Stimulate	35293591
Cholelithiasis	Associate	40428345
Cognition Disorders	Associate	21377902, 29669399
Cognition Disorders	Inhibit	22701550
Colorectal Neoplasms	Associate	30542696, 36101808
Corneal Endothelial Cell Loss	Stimulate	34221236
Coronary Artery Disease	Associate	23279374, 37686357
COVID 19	Associate	34232570, 37371071
Crohn Disease	Associate	34040049
Depressive Disorder	Associate	28667788
Diabetes Mellitus	Associate	28425473, 9377806
Diabetes Mellitus	Stimulate	37686357
Familial antiphospholipid syndrome	Associate	12648080, 12807892, 21255251
Fetal Diseases	Associate	15256379
Fibrosis	Inhibit	38027143
Guillain Barre Syndrome	Stimulate	20801190
HIV Seropositivity	Associate	34107171
Hydrocephalus Normal Pressure	Associate	34360799
Hyperlipoproteinemia Type II	Associate	12740481
Hyperlipoproteinemias	Associate	12740481
Hypoalphalipoproteinemias	Stimulate	26667175
Immunologic Deficiency Syndromes	Associate	12437660
Infectious Mononucleosis	Associate	10792380
Inflammation	Stimulate	17223652, 33355374, 34221236
Inflammation	Associate	20377996, 20801190, 23279374, 27228630, 28193831, 35293591
Intellectual Disability	Associate	21377902
Kidney Diseases	Associate	38027143
Leukemia Monocytic Acute	Associate	21091668
Leukemia Prolymphocytic T Cell	Associate	8222331
Livedoid Vasculopathy	Associate	17223652
Liver Diseases	Associate	22932793
Lupus Erythematosus Systemic	Associate	10366111, 12605674, 19132787, 22932793, 23214196, 28667788, 38609158
Lupus Erythematosus Systemic	Stimulate	12780700, 29669399
Lupus Nephritis	Associate	19132787
Mouth Diseases	Associate	28193831
Mycosis Fungoides	Associate	33299887
Myocardial Ischemia	Associate	10435722
Neoplasms	Inhibit	39291803
Neurologic Manifestations	Associate	21377902
Non alcoholic Fatty Liver Disease	Associate	35654975
Obesity	Associate	26711810, 28425473
Peritonitis	Associate	17223652
Placenta Diseases	Associate	15256379
Polyendocrinopathies Autoimmune	Associate	24819195, 35455968
Pregnancy Complications	Associate	12648080
Psychotic Disorders	Associate	28252112
Pulmonary Disease Chronic Obstructive	Associate	31920121
Respiratory Sounds	Associate	34538263
Seizures	Associate	21377902, 33532504
Stomach Neoplasms	Associate	36430456
Thrombocytopenia	Inhibit	18654666
Thrombocytopenia Neonatal Alloimmune	Inhibit	18654666
Thrombophilia	Associate	25081279
Thrombosis	Associate	10366111, 12807892, 17223652, 22106343, 22932793, 23811002, 25081279, 30549270, 31812994, 34107171, 35293591, 8222331
Vasculitis	Associate	8222331
Venous Thrombosis	Associate	25081279

APOH (apolipoprotein H)