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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	338
Gene name Gene Name - the full gene name approved by the HGNC.	Apolipoprotein B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	APOB
Synonyms (NCBI Gene) Gene synonyms aliases	FCHL2, FLDB, LDLCQ4, apoB-100, apoB-48
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p24.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and t

Show/Hide all(120)

SNP ID	Visualize variation	Clinical significance	Consequence
rs693	G>A	Likely-benign, benign, benign-likely-benign, drug-response	Synonymous variant, coding sequence variant
rs1799812	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs1800480	G>A,C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs1801696	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1801698	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1801700	G>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs2163204	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs5742904	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs6413458	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs12713558	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs12713843	C>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs12714097	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs12720810	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs41291161	A>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs61741164	T>A,C,G	Benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61741974	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs61742247	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72653061	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72653071	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs72653073	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs72653093	G>A	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs72653095	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72653098	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs72653100	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs76202659	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs121918383	G>A,C	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs121918384	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918385	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918386	G>A	Pathogenic	Stop gained, coding sequence variant
rs121918387	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918388	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918389	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918390	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121918391	A>T	Pathogenic	Stop gained, coding sequence variant
rs138157751	A>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Synonymous variant, coding sequence variant
rs142448733	C>A,T	Uncertain-significance, likely-benign, benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143269114	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs143301836	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs144023029	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144034290	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144040999	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs144467873	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145142090	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs145777339	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145862664	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146538280	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs147510760	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs148170480	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant
rs148502464	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs149306841	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150312765	G>A,C	Likely-benign, benign-likely-benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs186299244	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186544754	C>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200623857	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200768300	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs201736972	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs281865425	TTGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs368278927	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs368825685	A>C,G	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs370481987	T>C	Pathogenic	Coding sequence variant, missense variant
rs376103623	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906569	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs397514255	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514256	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs533755016	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs541497967	TCA>-	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, inframe deletion
rs562574661	CTG>-	Likely-benign, likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion
rs574725520	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs575505383	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs587776852	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231236	->CC	Pathogenic	Coding sequence variant, splice acceptor variant
rs730880052	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs747606537	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs748143305	T>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs756209187	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs759934326	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs760832994	AT>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs762028704	T>C	Pathogenic	Coding sequence variant, missense variant
rs766243954	C>A	Pathogenic	Coding sequence variant, stop gained
rs771015234	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs775345377	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant
rs776107514	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045253	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878853970	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853973	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039829	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs933777198	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs935792706	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057518647	CCCGGTC>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1168594259	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1215189537	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1220363895	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1339117465	A>G	Pathogenic	Missense variant, coding sequence variant
rs1382988295	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1399892057	C>T	Pathogenic	Splice acceptor variant
rs1418775778	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1442815965	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1553382295	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553382300	T>G	Pathogenic	Coding sequence variant, missense variant
rs1553382319	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553382325	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553382326	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553382678	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553383017	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553383473	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553383898	A>C	Pathogenic	Stop gained, coding sequence variant
rs1553383931	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553384177	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1553384441	TAGCATACATAT>CCTAAG	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553385404	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1553385715	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558560212	C>G	Likely-pathogenic	Splice acceptor variant
rs1558564161	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558565733	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1572785480	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1572799173	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1572799243	GGTTAGTTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572800245	T>C	Pathogenic	Splice acceptor variant
rs1572801523	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572802096	TCTGTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT665099	hsa-miR-624-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT638986	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT638985	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT665099	hsa-miR-624-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT638986	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT638985	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327

Transcription factors

Show/Hide all(7)

Transcription factor	Regulation	Reference
FOXA1	Activation	8441395
HNF4A	Unknown	1639815
NR2F1	Unknown	1639815
NR2F6	Unknown	1639815
PPARA	Activation	11925428
PPARA	Repression	16542871
PPARG	Repression	16542871

Show/Hide all(94)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	8245722, 16203724, 21911577, 22580899, 24447298, 25108285, 26224785, 27138255, 27487388
GO:0005543	Function	Phospholipid binding	IDA	7126555
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	26224785
GO:0005615	Component	Extracellular space	ISS	22261194
GO:0005737	Component	Cytoplasm	IDA	22580899
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005790	Component	Smooth endoplasmic reticulum	TAS
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006642	Process	Triglyceride mobilization	IBA
GO:0006642	Process	Triglyceride mobilization	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008201	Function	Heparin binding	IDA	16233946
GO:0008201	Function	Heparin binding	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	2563166
GO:0009566	Process	Fertilization	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0009791	Process	Post-embryonic development	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IDA	17244792, 18322245, 19114110
GO:0010884	Process	Positive regulation of lipid storage	IDA	18322245
GO:0010886	Process	Positive regulation of cholesterol storage	IDA	19114110
GO:0016042	Process	Lipid catabolic process	IEA
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0030301	Process	Cholesterol transport	IBA
GO:0030301	Process	Cholesterol transport	IEA
GO:0030301	Process	Cholesterol transport	IMP	2563166
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031904	Component	Endosome lumen	TAS
GO:0033344	Process	Cholesterol efflux	IEA
GO:0034359	Component	Mature chylomicron	IBA
GO:0034359	Component	Mature chylomicron	IDA	4363408
GO:0034360	Component	Chylomicron remnant	TAS	6099394
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	4363408, 15308631
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034361	Component	Very-low-density lipoprotein particle	TAS	27477018
GO:0034362	Component	Low-density lipoprotein particle	IBA
GO:0034362	Component	Low-density lipoprotein particle	IDA	4363408
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034362	Component	Low-density lipoprotein particle	TAS	27477018
GO:0034363	Component	Intermediate-density lipoprotein particle	IDA	1917954
GO:0034374	Process	Low-density lipoprotein particle remodeling	IMP	15797858
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IC	15308631
GO:0034383	Process	Low-density lipoprotein particle clearance	IMP	2563166, 15797858
GO:0035473	Function	Lipase binding	IPI	9685400
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042159	Process	Lipoprotein catabolic process	IEA
GO:0042627	Component	Chylomicron	IDA	4363408, 8245722
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	2563166
GO:0042953	Process	Lipoprotein transport	IBA
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043025	Component	Neuronal cell body	IDA	22897442
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	7853698
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IEA
GO:0048018	Function	Receptor ligand activity	IDA	27477018
GO:0048844	Process	Artery morphogenesis	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IBA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IMP	2563166, 15797858
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	27477018
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	27138255
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:0120020	Function	Cholesterol transfer activity	IMP	15797858
GO:1904646	Process	Cellular response to amyloid-beta	IDA	23459077, 29518356

MIM	HGNC	e!Ensembl
107730	603	ENSG00000084674

Protein

UniProt ID

P04114

Protein name

Apolipoprotein B-100 (Apo B-100) [Cleaved into: Apolipoprotein B-48 (Apo B-48)]

Protein function

Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.

PDB

9BD1 , 9BD8 , 9BDE , 9BDT , 9COO , 9E9R , 9EA7 , 9EAG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01347	Vitellogenin_N	46 → 598	Lipoprotein amino terminal region	Family
PF09172	DUF1943	632 → 938	Domain of unknown function (DUF1943)	Domain
PF06448	DUF1081	960 → 1071	Domain of Unknown Function (DUF1081)	Family
PF12491	ApoB100_C	4494 → 4550	Apolipoprotein B100 C terminal	Family

Sequence

MDPPRPALLALLALPALLLLLLAGARAEEEMLENVSLVCPKDATRFKHLRKYTYNYEAES
SSGVPGTADSRSATRINCKVELEVPQLCSFILKTSQCTLKEVYGFNPEGKALLKKTKNSE
EFAAAMSRYELKLAIPEGKQVFLYPEKDEPTYILNIKRGIISALLVPPETEEAKQVLFLD
TVYGNCSTHFTVKTRKGNVATEISTERDLGQCDRFKPIRTGISPLALIKGMTRPLSTLIS
SSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQVTQTLKLEDTPKINSRFFG
EGTKKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQNIQRANLFNKLVTELRGLSD
EAVTSLLPQLIEVSSPITLQALVQCGQPQCSTHILQWLKRVHANPLLIDVVTYLVALIPE
PSAQQLREIFNMARDQRSRATLYALSHAVNNYHKTNPTGTQELLDIANYLMEQIQDDCTG
DEDYTYLILRVIGNMGQTMEQLTPELKSSILKCVQSTKPSLMIQKAAIQALRKMEPKDKD
QEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINKIVQILPWEQNEQVKNFVASHIANI
LNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQLYKSVSLPSLDPASAKIEGNLI
FDPNNYLPKESMLKTTLTAFGFASADLIEIGLEGKGFEPTLEALFGKQGFFPDSVNKALY
WVNGQVPDGVSKVLVDHFGYTKDDKHEQDMVNGIMLSVEKLIKDLKSKEVPEARAYLRIL
GEELGFASLHDLQLLGKLLLMGARTLQGIPQMIGEVIRKGSKNDFFLHYIFMENAFELPT
GAGLQLQISSSGVIAPGAKAGVKLEVANMQAELVAKPSVSVEFVTNMGIIIPDFARSGVQ
MNTNFFHESGLEAHVALKAGKLKFIIPSPKRPVKLLSGGNTLHLVSTTKTEVIPPLIENR
QSWSVCKQVFPGLNYCTSGAYSNASSTDSASYYPLTGDTRLELELRPTGEIEQYSVSATY
ELQREDRALVDTLKFVTQAEGAKQTEATMTFKYNRQSMTLSSEVQIPDFDVDLGTILRVN
DESTEGKTSYRLTLDIQNKKITEVALMGHLSCDTKEERKIKGVISIPRLQAEARSEILAH
WSPAKLLLQMDSSATAYGSTVSKRVAWHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDY
PKSLHMYANRLLDHRVPQTDMTFRHVGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKE
FNLQNMGLPDFHIPENLFLKSDGRVKYTLNKNSLKIEIPLPFGGKSSRDLKMLETVRTPA
LHFKSVGFHLPSREFQVPTFTIPKLYQLQVPLLGVLDLSTNVYSNLYNWSASYSGGNTST
DHFSLRARYHMKADSVVDLLSYNVQGSGETTYDHKNTFTLSYDGSLRHKFLDSNIKFSHV
EKLGNNPVSKGLLIFDASSSWGPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGT
YGLSCQRDPNTGRLNGESNLRFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTAS
LKYENYELTLKSDTNGKYKNFATSNKMDMTFSKQNALLRSEYQADYESLRFFSLLSGSLN
SHGLELNADILGTDKINSGAHKATLRIGQDGISTSATTNLKCSLLVLENELNAELGLSGA
SMKLTTNGRFREHNAKFSLDGKAALTELSLGSAYQAMILGVDSKNIFNFKVSQEGLKLSN
DMMGSYAEMKFDHTNSLNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSD
LKYNALDLTNNGKLRLEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQ
GVEFSHRLNTDIAGLASAIDMSTNYNSDSLHFSNVFRSVMAPFTMTIDAHTNGNGKLALW
GEHTGQLYSKFLLKAEPLAFTFSHDYKGSTSHHLVSRKSISAALEHKVSALLTPAEQTGT
WKLKTQFNNNEYSQDLDAYNTKDKIGVELTGRTLADLTLLDSPIKVPLLLSEPINIIDAL
EMRDAVEKPQEFTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLK
HINIDQFVRKYRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIAL
DDAKINFNEKLSQLQTYMIQFDQYIKDSYDLHDLKIAIANIIDEIIEKLKSLDEHYHIRV
NLVKTIHDLHLFIENIDFNKSGSSTASWIQNVDTKYQIRIQIQEKLQQLKRHIQNIDIQH
LAGKLKQHIEAIDVRVLLDQLGTTISFERINDILEHVKHFVINLIGDFEVAEKINAFRAK
VHELIERYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDA
VKKLNELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELP
QKAEALKLFLEETKATVAVYLESLQDTKITLIINWLQEALSSASLAHMKAKFRETLEDTR
DRMYQMDIQQELQRYLSLVGQVYSTLVTYISDWWTLAAKNLTDFAEQYSIQDWAKRMKAL
VEQGFTVPEIKTILGTMPAFEVSLQALQKATFQTPDFIVPLTDLRIPSVQINFKDLKNIK
IPSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVED
IPLARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLYS
ILKIQSPLFTLDANADIGNGTTSANEAGIAASITAKGESKLEVLNFDFQANAQLSNPKIN
PLALKESVKFSSKYLRTEHGSEMLFFGNAIEGKSNTVASLHTEKNTLELSNGVIVKINNQ
LTLDSNTKYFHKLNIPKLDFSSQADLRNEIKTLLKAGHIAWTSSGKGSWKWACPRFSDEG
THESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQHVGHS
VLTAKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEGNLKVRF
PLRLTGKIDFLNNYALFLSPSAQQASWQVSARFNQYKYNQNFSAGNNENIMEAHVGINGE
ANLDFLNIPLTIPEMRLPYTIITTPPLKDFSLWEKTGLKEFLKTTKQSFDLSVKAQYKKN
KHRHSITNPLAVLCEFISQSIKSFDRHFEKNRNNALDFVTKSYNETKIKFDKYKAEKSHD
ELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDVRVPSYTLILP
SLELPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVITLNTNAELFNQS
DIVAHLLSSSSSVIDALQYKLEGTTRLTRKRGLKLATALSLSNKFVEGSHNSTVSLTTKN
MEVSVATTTKAQIPILRMNFKQELNGNTKSKPTVSSSMEFKYDFNSSMLYSTAKGAVDHK
LSLESLTSYFSIESSTKGDVKGSVLSREYSGTIASEANTYLNSKSTRSSVKLQGTSKIDD
IWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTSKATLELSPWQMSALV
QVHASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSFQSQVELSNDQEKAHLD
IAGSLEGHLRFLKNIILPVYDKSLWDFLKLDVTTSIGRRQHLRVSTAFVYTKNPNGYSFS
IPVKVLADKFIIPGLKLNDLNSVLVMPTFHVPFTDLQVPSCKLDFREIQIYKKLRTSSFA
LNLPTLPEVKFPEVDVLTKYSQPEDSLIPFFEITVPESQLTVSQFTLPKSVSDGIAALDL
NAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSFQALTARFEVDSPVYNATWSA
SLKNKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDGTLASKTKGTFAHRDFSAEYEE
DGKYEGLQEWEGKAHLNIKSPAFTDLHLRYQKDKKGISTSAASPAVGTVGMDMDEDDDFS
KWNFYYSPQSSPDKKLTIFKTELRVRESDEETQIKVNWEEEAASGLLTSLKDNVPKATGV
LYDYVNKYHWEHTGLTLREVSSKLRRNLQNNAEWVYQGAIRQIDDIDVRFQKAASGTTGT
YQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGLVRVTQEFHMKVKHLIDSLIDFLNFP
RFQFPGKPGIYTREELCTMFIREVGTVLSQVYSKVHNGSEILFSYFQDLVITLPFELRKH
KLIDVISMYRELLKDLSKEAQEVFKAIQSLKTTEVLRNLQDLLQFIFQLIEDNIKQLKEM
KFTYLINYIQDEINTIFSDYIPYVFKLLKENLCLNLHKFNEFIQNELQEASQELQQIHQY
IMALREEYFDPSIVGWTVKYYELEEKIVSLIKNLLVALKDFHSEYIVSASNFTSQLSSQV
EQFLHRNIQEYLSILTDPDGKGKEKIAELSATAQEIIKSQAIATKKIISDYHQQFRYKLQ
DFSDQLSDYYEKFIAESKRLIDLSIQNYHTFLIYITELLKKLQSTTVMNPYMKLAPGELT
IIL

Sequence length

4563

Interactions

View interactions

	KEGG		Reactome
	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism Lipid and atherosclerosis		Cell surface interactions at the vascular wall Scavenging by Class B Receptors Scavenging by Class A Receptors Scavenging by Class F Receptors Scavenging by Class H Receptors Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Platelet sensitization by LDL Regulation of TLR by endogenous ligand Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis VLDL assembly Post-translational protein phosphorylation Chylomicron assembly Chylomicron remodeling Chylomicron clearance LDL clearance LDL remodeling VLDL clearance Retinoid metabolism and transport

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Coronary artery disease	Early-onset coronary artery disease	rs1215189537	N/A
Hypercholesterolemia	Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	rs1382988295, rs1553382295, rs1553385404, rs1553382319, rs1553385715, rs144467873, rs1553382325, rs1442815965, rs121918386, rs1572802096, rs747606537, rs886039829, rs5742904	N/A
Hypobetalipoproteinemia	familial hypobetalipoproteinemia	rs281865425, rs1553384177, rs121918390, rs397514255, rs1553384441, rs587776852, rs121918383, rs1553385404, rs1572800245, rs121918384, rs606231236, rs121918385, rs121918386, rs387906569, rs759934326 View all (4 more)	N/A
hypobetalipoproteinemia	Hypobetalipoproteinemia	rs756209187, rs797045253, rs143301836, rs1057518647, rs1553382678	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gastroesophageal Reflux Disease	Gastroesophageal reflux disease	N/A	N/A	GWAS
Hyperlipidemia	Familial combined hyperlipidemia defined by Goldstein criteria, Familial combined hyperlipidemia defined by Brunzell criteria	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Show/Hide Text Mining Associations (218)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abetalipoproteinemia	Associate	1860638, 1939657, 2339706, 2429992, 27179706, 28514664, 2903181, 34078172, 3782476, 7229035, 8533758, 8770313, 8808765, 8939939
Abetalipoproteinemia	Inhibit	23556456
Abortion Habitual	Inhibit	39176081
Acalculous Cholecystitis	Associate	7616125
Acute Coronary Syndrome	Associate	30242056, 35440891
Adenocarcinoma	Associate	36171259
Adenomatous Polyposis Coli	Associate	37565794
alpha 1 Antitrypsin Deficiency	Associate	31832977
Alzheimer Disease	Associate	28943632, 31135820, 34459398, 35011591, 36114174, 39923073
Amyotrophic Lateral Sclerosis	Stimulate	34518331
Amyotrophic Lateral Sclerosis	Associate	39923073
Anemia Sickle Cell	Associate	26025476
Anemia Sickle Cell	Stimulate	38265339
Aphasia Conduction	Associate	40065360
Apolipoprotein E Deficiency or Defect of	Inhibit	3771793
Arrhythmogenic Right Ventricular Dysplasia	Associate	36008935
Arthritis	Associate	34996506
Arthritis Gouty	Associate	7794039
Arthritis Psoriatic	Stimulate	34996506
Ataxia	Associate	18458655, 23043354
Ataxia Telangiectasia	Inhibit	31311983
Atherosclerosis	Associate	11579088, 11815617, 16201717, 19282639, 20334678, 2079601, 2351870, 24069429, 26459191, 2885324, 29162127, 29574070, 30242056, 32130292, 33640328 View all (12 more)
Atrial Fibrillation	Associate	34587962
Autism Spectrum Disorder	Associate	34504056
Autistic Disorder	Associate	34504056
Autoimmune Diseases	Associate	29617672, 34539672
Bile Duct Neoplasms	Associate	18296645
Bipolar Disorder	Associate	24882193, 30315151
Bone Diseases Metabolic	Inhibit	23556456
Bone Diseases Metabolic	Associate	24106285, 7508006
Breast Neoplasms	Associate	26682542, 34105210
Bronchopulmonary Dysplasia	Associate	36757497
Carcinoma Endometrioid	Associate	39193372
Carcinoma Hepatocellular	Associate	15123606, 18550891, 23723369, 28622513, 29514927, 35637248, 35998012, 40180213, 8602361
Carcinoma Merkel Cell	Associate	36970060
Carcinoma Non Small Cell Lung	Associate	32238407
Carcinoma Pancreatic Ductal	Associate	30206226, 32243098
Carcinoma Renal Cell	Associate	31140607
Cardiomyopathy Dilated	Associate	33860048
Cardiovascular Diseases	Associate	15543563, 15805152, 17953518, 21080476, 23468263, 26842615, 28219664, 29776362, 30298424, 31882500, 31903889, 32430061, 33686948, 36197256, 36380121, 36769130, 8943493 View all (2 more)
Cardiovascular Diseases	Stimulate	17890784
Carotid Stenosis	Associate	33686948
Carotid Stenosis	Stimulate	36769130
Cerebellar Ataxia	Associate	23043354
Cerebral Infarction	Associate	19934556, 27554116, 32891149, 32981134, 39889961
Cerebral Infarction	Stimulate	24151447, 28982360, 32644829, 36066144
Cerebral Small Vessel Diseases	Associate	32981134
Chronic Disease	Associate	36197256
Chylomicron retention disease	Associate	19713673, 22104167
Cleft Lip	Stimulate	23001979
Clinical Deterioration	Associate	34504056
Cognition Disorders	Associate	31043469, 34135129
Colitis Associated Neoplasms	Associate	35733095
Colonic Neoplasms	Associate	8441395
Colorectal Neoplasms	Associate	30542696, 31300050, 36864816
Coronary Artery Disease	Associate	10803441, 11748351, 12640502, 12754559, 12964943, 16316917, 16594908, 19014618, 20334678, 20715976, 21059979, 21889313, 22507620, 22834788, 24530664 View all (20 more)
Coronary Disease	Associate	10484616, 11170229, 11230170, 17142622, 17890784, 19336475, 19494537, 20412465, 21804106, 23054246, 23468263, 2351870, 27112212, 27554116, 28213390 View all (15 more)
Coronary Disease	Stimulate	11290835
Coronary Stenosis	Associate	33787603
COVID 19	Associate	34276680, 35415903, 36400032, 36426391
Coxa Magna	Associate	26617857
Crohn Disease	Associate	25250685, 8014581
Deafness	Associate	26636822
Death	Associate	30694319
Dementia	Associate	20972885
Diabetes Gestational	Associate	34665686, 39428345
Diabetes Mellitus	Associate	12444310, 12867534, 26025476, 34729547, 34996506, 36499290, 37517561, 37914804, 40016689
Diabetes Mellitus	Stimulate	20855567
Diabetes Mellitus Type 2	Associate	14746565, 21497351, 29617380, 30535058, 34729547, 34789800, 34805411, 35317787, 35732646, 37914804, 39511203
Diabetic Nephropathies	Associate	23879411
Diastrophic dysplasia	Associate	10636265
Duodenal Neoplasms	Associate	37565794
Dyskeratosis Congenita	Associate	34929494
Dyslipidemias	Associate	10803441, 16343038, 22896670, 25292352, 25587205, 25897955, 27054361, 29126409, 29574070, 3001697, 31833377, 32401924, 3464946, 35317787, 36197256, 37582372, 40114142, 40180213, 6631214 View all (4 more)
Dystonic Disorders	Associate	15485476
Enterocolitis Necrotizing	Associate	36371157
Epileptic Syndromes	Associate	10357843, 15805152, 16594908, 17142622, 17694954, 1993649, 21059979, 23054246, 23669246, 24987033, 2563166, 26643808, 26908947, 2843815, 3200853 View all (8 more)
Erythrocytosis Familial 2	Associate	26025476
Essential Hypertension	Associate	36197256
Fatty Liver	Associate	11893777, 14732481, 14967820, 23723369, 27054361, 31000363, 33454241, 35413066, 35457099, 40065360, 40180213
Fetal Growth Retardation	Associate	38069155
Fibrosis	Associate	23723369
Frontotemporal Dementia	Associate	26643808, 34539672
Gallbladder Diseases	Associate	20503456, 7616125
Gallbladder Neoplasms	Inhibit	20082485
Gallbladder Neoplasms	Associate	20082485
Gallstones	Associate	20082485, 20503456, 7616125
Genetic Diseases Inborn	Associate	11574954, 26025476, 3477815
Glioblastoma	Associate	29513714
Glomerulonephritis Membranous	Associate	37511514
Gout	Associate	25432151
Graft vs Host Disease	Associate	8944430
Guillain Barre Syndrome	Stimulate	38143756
Heart Diseases	Associate	2351870, 26636822, 34729547, 36114174
Heart Failure	Associate	25528061, 39809209
Hepatitis B	Associate	36098309
Hepatitis C	Associate	18393287
Hepatitis C Chronic	Associate	23001979, 28018102
Hernia	Associate	23631828
Hodgkin Disease	Associate	31816062
Homozygous Familial Hypercholesterolemia	Associate	33599434, 37850379, 6876109
Hypercholesterolemia	Associate	10357843, 10677305, 11170232, 11483625, 15061621, 15797858, 1977310, 1993649, 25292352, 2563166, 30266833, 30315151, 33128957, 35741760, 37108800 View all (7 more)
Hyperlipidemia Familial Combined	Associate	10205279, 12560593, 16106049, 17127808, 19335919, 19834104, 19965785, 20383777, 31725952, 8678927, 9157945, 9683593
Hyperlipidemias	Associate	12923233, 23468263, 23546960, 28902930, 2901432, 8063810, 8263419
Hyperlipoproteinemia Type I	Stimulate	10946020
Hyperlipoproteinemia Type I	Inhibit	22095987
Hyperlipoproteinemia Type II	Associate	10205269, 10357843, 10984082, 11170232, 11179013, 11483625, 11574954, 14967814, 15701167, 16594908, 1684620, 17694954, 1770302, 17964958, 19007590 View all (81 more)
Hyperlipoproteinemia Type II	Stimulate	17200715, 22653811
Hyperlipoproteinemia Type III	Associate	37685967
Hyperlipoproteinemia Type IV	Associate	33588820
Hyperlipoproteinemias	Associate	7985674
Hypertension	Associate	18801202, 19772655, 25587205, 29208002, 32401924, 34729547, 34996506, 36197256, 36769130, 37517561
Hypertrichosis congenital generalized X linked	Associate	9706990
Hypertriglyceridemia	Associate	11483625, 20657596, 22095987, 23001979, 29208002, 32115487, 4363408, 8063810
Hypertriglyceridemic Waist	Stimulate	8450056
Hyperuricemia	Associate	25432151
Hypoalphalipoproteinemias	Associate	22658148
Hypobetalipoproteinemia Familial 1	Associate	28633452, 3473077
Hypobetalipoproteinemia Familial 2	Associate	1619363
Hypobetalipoproteinemia Familial Apolipoprotein B	Associate	15102883
Hypobetalipoproteinemias	Associate	10224159, 10224165, 11590210, 11688825, 11893777, 12551903, 1431583, 14732481, 14967820, 1527480, 15797858, 1602000, 1619363, 17588943, 1770316 View all (28 more)
Hypobetalipoproteinemias	Inhibit	19562718, 33207932
Hypoxia Brain	Associate	26025476
Idiopathic Noncirrhotic Portal Hypertension	Associate	34052252
Infarction Anterior Cerebral Artery	Associate	32981134
Infarction Anterior Cerebral Artery	Stimulate	39889961
Infections	Associate	18393287
Infertility Female	Associate	20407020
Inflammation	Associate	30242056, 31185305, 32023884, 35317787, 35413066, 35732646
Inflammatory Bowel Diseases	Associate	33588072
Insulin Resistance	Associate	14967820, 26553260, 29698057, 29946054, 31903889, 8100834
Insulin Resistance	Stimulate	24142110
Intervertebral Disc Degeneration	Associate	36746221
Intestinal Pseudo Obstruction	Associate	15547300
Ischemic Attack Transient	Associate	29385837
Kidney Calculi	Associate	7616125
Kidney Diseases	Associate	8731088
Kidney Failure Chronic	Inhibit	8432847
Lecithin Cholesterol Acyltransferase Deficiency	Associate	22658148, 35598637, 7989589
Leukemia Monocytic Acute	Associate	19661723
Lipid Metabolism Disorders	Associate	11574954, 25248404, 26617857
Liver Cirrhosis	Associate	1568667, 23001979
Liver Diseases	Associate	40065360
Lung Neoplasms	Associate	36089134
Lupus Erythematosus Systemic	Associate	29617672, 33640328, 35999016
Macular Degeneration	Associate	18182060, 20598021
Macular Degeneration	Inhibit	39497194
Mental Disorders	Associate	24882193, 33588072
Metabolic Diseases	Associate	40180213
Metabolic Syndrome	Stimulate	19713673
Metabolic Syndrome	Associate	21393584, 25671620, 31903889, 32430061, 34016094, 34219465, 36499290, 40481456
Multiple Myeloma	Associate	31387987
Multiple Sclerosis	Associate	35135578
Myocardial Infarction	Associate	23067240, 23697869, 24386469, 27683205, 30298424, 30694319, 30971288, 34773460
Myocardial Ischemia	Associate	33927215, 9603795
Neoplasms	Associate	11727199, 26682542, 26832400, 29140415, 31835137, 36595567, 36864816, 36970060, 37565794, 8602361
Neoplasms Adipose Tissue	Associate	26451733
Nephrotic Syndrome	Associate	34511173, 8731088
Nephrotic Syndrome	Stimulate	37511514
Nervous System Diseases	Associate	31397093
Neurodegenerative Diseases	Associate	36197256, 39461112
Neurofibromatosis Noonan syndrome	Associate	34838008
Neurologic Manifestations	Associate	32093271
Non alcoholic Fatty Liver Disease	Associate	27054361, 30842500, 33454241, 35413066
Non ST Elevated Myocardial Infarction	Inhibit	33667626
Obesity	Associate	10706596, 12055319, 19772655, 20855567, 20930716, 28974732, 34805411, 34975757, 35317787, 36197256, 37517561, 40114142, 9553735, 9741687
Obesity	Stimulate	11500319
Obesity Abdominal	Associate	9741687
Oropharyngeal Neoplasms	Associate	29950685
Osteoarthritis	Inhibit	35405941
Osteoarthritis Hip	Inhibit	35405941
Osteoarthritis Knee	Inhibit	35405941
Osteogenesis imperfecta type 3	Associate	20413671
Osteonecrosis	Associate	25248404
Ovarian Neoplasms	Associate	29170526, 34745121, 34997982
Overweight	Associate	25134189, 26025476, 34975757
Parkinson Disease	Associate	28943632
Pena Shokeir syndrome type 1	Associate	32093271
Periodontitis	Associate	18248365, 34805411
Periodontitis	Inhibit	34805411
Peripheral Arterial Disease	Associate	34139859, 39304430
Peripheral Vascular Diseases	Associate	7883971
Phenylketonurias	Associate	32106880
Plaque Atherosclerotic	Associate	11579088
Polycystic Ovary Syndrome	Associate	25956367, 28937295, 29636060
Polycystic Ovary Syndrome	Stimulate	32482257
Polypoidal Choroidal Vasculopathy	Associate	31877157
Pre Eclampsia	Associate	39202588
Prostatic Hyperplasia	Associate	22952051
Prostatic stromal proliferation of uncertain malignant potential	Associate	37013557
Psychological Distress	Stimulate	31121870
Pulmonary edema of mountaineers	Associate	28242600
Renal Insufficiency Chronic	Stimulate	31109090
Rhinitis Allergic	Associate	31185305
Riboflavin Deficiency	Associate	15867268
Schizophrenia	Associate	34135129
Sleep Apnea Obstructive	Associate	24232699
Sleep Initiation and Maintenance Disorders	Associate	35432581
Squamous Cell Carcinoma of Head and Neck	Associate	32775421, 37013557, 37686462
ST Elevation Myocardial Infarction	Associate	30298424
Stomach Neoplasms	Associate	32176636, 36430456
Stroke	Associate	34729547
Takotsubo Cardiomyopathy	Associate	32695227
Tangier Disease	Associate	1701170
Thrombosis	Associate	28540474
Thymoma	Associate	36991043
Thyroid Cancer Papillary	Inhibit	31311983
Thyroid Crisis	Inhibit	33524107
Thyroid Neoplasms	Associate	38127052
Tobacco Use Disorder	Associate	35590255
Uremia	Associate	39809209
Urinary Bladder Neoplasms	Associate	23631828, 29028944, 31233191
Uterine Cervical Dysplasia	Associate	29950685
Uveal melanoma	Associate	33120861
Venous Thrombosis	Associate	28540474
Vertigo	Associate	1770302
Virus Diseases	Associate	28018102
Xanthomatosis	Associate	1797940, 23468263

APOB (apolipoprotein B)