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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APOB Gene

protein-coding GIFtS: 63
GCID: GC02M021135

apolipoprotein B (including Ag(x) antigen)

Explore 180 diseases affiliated with
APOB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Apolipoprotein B (Including Ag(X) Antigen)¹ ²		ApoB-48¹
Apo B-100² ³		Apolipoprotein B-100²
FLDB² ⁵		Apolipoprotein B48²
LDLCQ4² ⁵		Mutant Apo B 100²
ApoB-100¹

External Ids:	HGNC: 603¹	Entrez Gene: 338²	Ensembl: ENSG00000084674⁷	OMIM: 107730⁵	UniProtKB: P04114³

Export aliases for APOB gene to outside databases

Previous GC identifers: GC02M021130 GC02M021317 GC02M021198 GC02M020956

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APOB:

This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two

main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The

intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms

share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100

transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation

termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic

hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol

and apoB levels. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: APOB_HUMAN, P04114

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

Gene Wiki entry for APOB (Apolipoprotein B)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APOB gene promoter:
Max1 NF-1 FOXD1 RORalpha1 MEF-2A POU2F1 POU2F1a aMEF-2 GR-alpha c-Myc
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for APOB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APOB

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p24-p23 Ensembl cytogenetic band: 2p24.1 HGNC cytogenetic band: 2p24-p23

APOB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOB gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M021135: view genomic region (about GC identifiers)

Start:	21,224,301 bp from pter	End:	21,266,945 bp from pter
Size:	42,645 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: APOB_HUMAN, P04114 (See protein sequence)

Recommended Name: Apolipoprotein B-100 precursor

Size: 4563 amino acids; 515605 Da

Subunit: Interacts with PCSK9

Subcellular location: Cytoplasm. Secreted

Rna editing: Modified_positions=2180; Note=The stop codon (UAA) at position 2180 is created by RNA editing. Apo B-48,

derived from the fully edited RNA, is produced only in the intestine and is found in chylomicrons. Apo B-48 is a

shortened form of apo B-100 which lacks the LDL-receptor region. The unedited version (apo B-100) is produced by the

liver and is found in the VLDL and LDL

Sequence caution: Sequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385;

Secondary accessions: O00502 P78479 P78480 P78481 Q13779 Q13785 Q13786 Q13787 Q13788 Q4ZG63 Q53QC8

Q7Z600 Q9UMN0

Explore the universe of human proteins at neXtProt for APOB: NX_P04114

Post-translational modifications:

Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P04114

APOB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000375.2

ENSEMBL proteins:

ENSP00000233242 ENSP00000382200

Reactome Protein details: P04114
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant APOB Protein
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	Novus Biologicals APOB Proteins
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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for APOB

Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	ISS	--
GO:0005737	cytoplasm	IDA	--
GO:0005783	endoplasmic reticulum	--	--
GO:0005788	endoplasmic reticulum lumen	TAS	--

APOB for ontologies About GeneDecksing

APOB Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of APOB
	R&D Systems Antibodies for APOB (Apolipoprotein B100/ApoB100, Apolipoprotein B/ApoB)
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	Abcam antibodies for APOB
	Uscn Antibodies for APOB
	ThermoFisher Antibody for APOB

Assay Products for APOB:

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	R&D Systems ELISAs for APOB (Apolipoprotein B/ApoB)
	GenScript Custom Assay Services for APOB
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APOB

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APOB for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR011030 Vitellinogen_superhlx

IPR015818 Vitellinogen_open_b-sht_sub2

IPR015817 Vitellinogen_open_b-sht_sub1

IPR001747 Lipid_transpt_N

IPR015816 Vitellinogen_b-sht_N

Graphical View of Domain Structure for InterPro Entry P04114

ProtoNet protein and cluster: P04114

1 Blocks protein family: IPB001747 Lipid transport protein

UniProtKB/Swiss-Prot: APOB_HUMAN, P04114

Similarity: Contains 1 vitellogenin domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: APOB_HUMAN, P04114

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

Induction: Up-regulated in response to enterovirus 71 (EV71) infection (at protein level)

Genatlas biochemistry entry for APOB:

apolipoprotein B (including Ag(x) antigen),major component of chylomicrons,VLDL,LDL with two forms B100 and B48

(intestine),3'MARs,likely functioning as an insulator element,conferring high level and position independent

expression of ApoB,flanked by sequences binding to nuclear matrix between nuclear sensitive and resitant chromatin

miRNA Products:		OriGene 3'-UTR Clone: APOB Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APOB
		1 QIAGEN miScript miRNA Assays for microRNA that regulate APOB:
		hsa-miR-548p
		SwitchGear 3'UTR luciferase reporter plasmid: APOB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APOB (see all 4) OriGene shRNA RFP: APOB OriGene siRNA: APOB
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for APOB

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APOB (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APOB OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for APOB
		Search LifeMap BioReagents cell lines for APOB

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOB

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005319	lipid transporter activity	--	--
GO:0005515	protein binding	IPI	--
GO:0005543	phospholipid binding	IDA	7126555
GO:0008201	heparin binding	IDA	16233946
GO:0008289	lipid binding	--	--

APOB for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for APOB: Apob^tm3Sgy Apob^tm1Bres Apob^tm1Sgy Apob^tm2Sgy
     10 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Apob):

cardiovascular system	embryogenesis	growth/size	homeostasis/metabolism	liver/biliary system
mortality/aging	nervous system	pigmentation	reproductive system	vision/eye

APOB for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lipoprotein metabolism

	Lipoprotein metabolism	1.00			Lipid digestion, mobilization, and transport	0.56
	Chylomicron-mediated lipid transport	0.57

Retinoid metabolism and transport

	Retinoid metabolism and transport	1.00			Diseases associated with visual transduction	0.73
	Visual phototransduction	0.74

Degradation of newly synthesized ApoB-48

Degradation of newly synthesized ApoB-48

1.00

LDL leads to activation of PECAM1

0.50

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Statin Pathway, Pharmacodynamics

Statin Pathway, Pharmacodynamics

1.00

Statin Pathway

0.80

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for APOB

	Selected targets of C/EBPbeta
	Selected targets of HNF1
	Selected targets of C/EBPalpha

4 BioSystems Pathways for APOB

	Statin Pathway
	Selenium Pathway
	FOXA1 transcription factor network
	amb2 Integrin signaling

5/17 Reactome Pathways for APOB (see all 17)

	Diseases associated with visual transduction
	Metabolism
	Platelet homeostasis
	Chylomicron-mediated lipid transport
	Visual phototransduction

1 PharmGKB Pathway for APOB

Statin Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for APOB):

	Fat digestion and absorption
	Vitamin digestion and absorption

APOB for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for APOB

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/56 Interacting proteins for APOB (P04114³ ENSP00000233242⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPA1A	P08107³, ENSP00000364802⁴	I2D: score=1 STRING: ENSP00000364802
BGN	P21810³, ENSP00000327336⁴	I2D: score=2 STRING: ENSP00000327336
CALR	P27797³, ENSP00000320866⁴	I2D: score=2 STRING: ENSP00000320866
LIPC	P11150³, ENSP00000299022⁴	I2D: score=2 STRING: ENSP00000299022
PPIB	P23284³, ENSP00000300026⁴	I2D: score=2 STRING: ENSP00000300026

About this table

Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0006629	lipid metabolic process	TAS	--
GO:0006642	triglyceride mobilization	IEA	--
GO:0006898	receptor-mediated endocytosis	TAS	--
GO:0007283	spermatogenesis	IEA	--

APOB for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

APOB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for APOB

2 HMDB Compounds for APOB About this table

Compound	Synonyms	CAS #	PubMed Ids
Atorvastatin	Atorvastatin acid (see all 4)	134523-00-5	--
Heparin	Arteven (see all 17)	9005-49-6	--

10/121 Novoseek chemical compound relationships for APOB gene (see all 121) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cholesterol	94.6	5007	8071601 (7), 19491209 (7), 1591376 (6), 17214991 (6) (see all 99)
lipid	89.9	839	18789885 (7), 15254032 (5), 12216835 (4), 9065474 (4) (see all 99)
xbai	80.6	101	1348933 (3), 8095917 (3), 9298741 (2), 9353975 (2) (see all 62)
simvastatin	79.5	117	1627634 (4), 10357840 (3), 18184901 (3), 9027779 (2) (see all 76)
atorvastatin	77.3	132	10357840 (7), 11882317 (4), 12606523 (3), 9115054 (2) (see all 67)
ezetimibe	77.2	37	19331437 (2), 19770624 (2), 19490064 (2), 12423709 (1) (see all 22)
triacylglycerol	75.2	160	1332692 (6), 9162741 (4), 17054424 (3), 9065474 (3) (see all 74)
n-acetylleucylleucylnorleucinal	74.6	47	8226809 (9), 10195935 (2), 8132654 (2), 12670935 (1) (see all 15)
colestipol	70.7	3	7772081 (1), 8620338 (1)
fibrinogen	70.4	185	8960421 (4), 11730086 (4), 11942772 (3), 10873614 (3) (see all 99)

1 PharmGKB related drug/compound annotation for APOB gene

Drug/compound	PharmGKB Annotation
irbesartan	CA

About this table

Search CenterWatch for drugs/clinical trials and news about APOB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for APOB gene:

NM_000384.2

Unigene Cluster for APOB:

Apolipoprotein B (including Ag(x) antigen)

Hs.120759 [show with all ESTs]

Unigene Representative Sequence: NM_000384

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000233242(uc002red.3) ENST00000399256

miRNA Products:		OriGene 3'-UTR Clone: APOB Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APOB
		1 QIAGEN miScript miRNA Assays for microRNA that regulate APOB:
		hsa-miR-548p
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APOB (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APOB OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: APOB (NM_000384)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOB
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APOB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOB

Additional cDNA sequence:

AB208846.1 AJ399514.1 AK290844.1 BC051278.1 HM487065.1 J02610.1 K03175.1 M10374.1

M12413.1 M12480.1 M12681.1 M14081.1 M14162.1 M15421.1 M17367.1 M17779.1

M18036.1 M18471.1 M19734.1 M31030.1 M36676.1 X03045.1 X03324.1 X03325.1

X03326.1 X04506.1 X04714.1

10 DOTS entries:

DT.95372545 DT.100662865 DT.91769062 DT.100864605 DT.91726507 DT.121004388 DT.121004420 DT.447613

DT.91769059 DT.95372544

24/273 AceView cDNA sequences (see all 273):

AI611653 BG563159 AA377339 CB161845 AV647769 AI289646 CB164516 CB162314

BG618070 X03326 AI207453 BX955714 M12681 M31030 BG617065 X03325

H91299 BG565972 AI061648 AV649820 BX503399 H57778 BX495793 AV647782

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for APOB About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^
SP1:																																	-
SP2:																															-
SP3:

ExUns:	26	^	27	^	28	^	29	^	30
SP1:
SP2:
SP3:

ECgene alternative splicing isoforms for APOB

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

APOB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCTTGCTC

About this image

APOB expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Gut Tube

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Endoderm progenitor-like cells (Generation and expan...)

Primitive gut tube-like cells (A scalable, suspensi...)

Embryoid bodies (Two-step protocol fo...)

DKK1-induced cells (Derivation of cardio...)

Beating cell clusters (Spontaneous differen...)

See APOB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for APOB

SOURCE GeneReport for Unigene cluster: Hs.120759

SABiosciences Expression via Pathway-Focused PCR Arrays including APOB:

Atherosclerosis in human mouse rat

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Fatty Liver in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APOB Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOB

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for APOB gene from 6/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Apob^{1 , 5}	apolipoprotein B^{1, 5}	78.73(n)¹ 71.06(a)¹		12 (3.53 cM)⁵ 238055¹ NM_009693.2¹ NP_033823.2¹ 7977648⁵
chicken (Gallus gallus)	Aves	APOB¹	apolipoprotein B (including Ag(x) antigen)	61.41(n) 50.76(a)		396535 NM_001044633.1 NP_001038098.1
lizard (Anolis carolinensis)	Reptilia	APOB⁶	--	48(a)	1 ↔ 1	1(155811507-155867872)
African clawed frog (Xenopus laevis)	Amphibia	MGC64418²	hypothetical protein MGC64418	74.86(n)		BC054229.1
zebrafish (Danio rerio)	Actinopterygii	57048869²	--	72.03(n)		57048869
fruit fly (Drosophila melanogaster)	Insecta	CG15828⁶ Rfabg⁶	Retinoid- and fatty acid-binding glycoprotein	12(a) 12(a)	many → 1 many → 1	2L(9634201-9656026) 4(1085538-1096830)

ENSEMBL Gene Tree for APOB (if available)
TreeFam Gene Tree for APOB (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12713559^1,2	C,F,H,	pathogenic	21229068(-)	`TCCAAC/TGCATA`	2	R C	mis¹ ese³		14		NS EA NA EU	7059
rs5742904^1,2	C,F,H	pathogenic	21229160(-)	`CACACG/AGTCTT`	2	/Q /R	mis¹ ese³		8		NS EA NA EU	7643
rs138157751^1,2	C,	other	21226042(+)	`TTGACA/GTAATC`	2	Y	syn¹		1		NA	4550
rs142056660^1,2	C	other	21231406(+)	`CCATTC/TCCTAT`	2	G	syn¹		1		NA	4544
rs59063101^1,2		--	21223853(+)	`AATATG/TTAATT`	1	--	ds500¹		0	--	--	--	--
rs57437972^1,2		--	21223894(+)	`ATAAAC/TATTTT`	1	--	ds500¹		0	--	--	--	--
rs185235584^1,2		--	21223913(+)	`AATATG/TTAATT`	1	--	ds500¹		0	--	--	--	--
rs188563726^1,2		--	21224003(+)	`AATATG/TTAATT`	1	--	ds500¹		0	--	--	--	--
rs193231549^1,2		--	21224014(+)	`ATAAAA/TACTTT`	1	--	ds500¹		0	--	--	--	--
rs12713429^1,2	C,	--	21224016(+)	`aaataC/Ttttaa`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for APOB (21224301 - 21266945 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for APOB: --
Human Gene Mutation Database (HGMD): APOB

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APOB

DNA2.0 Custom Variant and Variant Library Synthesis for APOB

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

APOB for disorders           About GeneDecksing

OMIM gene information: 107730
OMIM disorders: 144010
UniProtKB/Swiss-Prot: APOB_HUMAN, P04114

Defects in APOB are a cause of familial hypobetalipoproteinemia type 1 (FHBL1) [MIM:107730]. A disorder

characterized by highly reduced plasma concentrations of low density lipoproteins, and dietary fat malabsorption.

Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to

abetalipoproteinemia

Defects in APOB are a cause of familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]. FDB is a

dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to

coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of

LDL particles by defective APOB/E receptors

Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia

20/180 diseases for APOB (see all 180): About MalaCards

hypobetalipoproteinemia, normotriglyceridemic hypercholesterolemia, due to ligand-defective apo b hypobetalipoproteinemia hypercholesterolemia

defective apolipoprotein b-100 chylomicron retention disease hyperlipoproteinemia type iii bile acid malabsorption

avascular necrosis of femoral head lipoprotein lipase deficiency cerebrotendinous xanthomatosis age related macular degeneration

cetp deficiency myocardial infarction hepatitis patent ductus arteriosus

glucose intolerance carotid artery disease hyperlipoproteinemia critical limb ischemia

18 diseases from the University of Copenhagen DISEASES database for APOB:

Atherosclerosis Coronary heart disease Familial hyperlipidemia Abetalipoproteinemia

Hypobetalipoproteinemia Diabetes mellitus Myocardial infarction Hypertension

Familial hypertriglyceridemia Nephrotic syndrome Kidney failure Cerebrovascular accident

Hyperinsulinism Hypothyroidism Hyperglycemia Proteinuria

Tangier disease Xanthomatosis

10/94 Novoseek disease relationships for APOB gene (see all 94) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
abetalipoproteinemia	91.1	129	1860638 (4), 8422264 (3), 10224165 (3), 11940084 (2) (see all 63)
hypobetalipoproteinemia	89.3	51	8300620 (3), 7947592 (3), 1431583 (2), 9714141 (2) (see all 31)
hypercholesterolemia familial	88	72	1770303 (2), 20451687 (2), 8978490 (2), 1415054 (2) (see all 51)
hyperlipidemia familial combined	87.4	42	15308552 (2), 19965785 (2), 8224806 (2), 1761202 (2) (see all 30)
apolipoprotein b-100, familial defective	86.4	12	7784416 (1), 1845776 (1), 8001287 (1), 11031227 (1) (see all 11)
hypercholesterolemia	85.8	120	9254062 (4), 18377643 (3), 7627691 (3), 10952765 (2) (see all 86)
dyslipidemia	83.8	50	9407512 (2), 7723244 (1), 10781757 (1), 15982605 (1) (see all 42)
atherosclerosis	83.3	158	10634369 (3), 8604528 (3), 9667803 (3), 20030174 (2) (see all 99)
coronary heart disease	82.3	127	10930142 (4), 17698856 (2), 8697069 (2), 1346774 (2) (see all 89)
hypertriglyceridemia	81.2	50	1459430 (3), 8148350 (2), 15043507 (2), 16343038 (1) (see all 36)

Genatlas disease: APOB

primary hypercholesterolemia with peripheral vascular disease,familial ligand defective APO-B (receptor binding

defective LDL) and/or myocardial infarction susceptibility with an insertion/deletion polymorphism in the signal

peptide

Genetic Association Database (GAD): APOB
Human Genome Epidemiology (HuGE) Navigator: APOB (444 documents)

Export disorders for APOB gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for APOB gene, integrated from 9 sources (see all 2834):
(articles sorted by number of sources associating them with APOB)

Utopia: connect your pdf to the dynamic
world of online information

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. (PubMed id 2563166)^{1, 2, 4} Soria L.F....McCarthy B.J. (1989)
[Polymorphic gene markers of lipid metabolism are associated with diabetic nephropathy in patients with type 1 diabetes mellitus] (PubMed id 16152798)^{1, 4, 9} Iakunina N.I.u....Nosikov V.V. (2005)
Apolipoprotein B gene polymorphism and plasma lipid levels in phenylketonuric children. (PubMed id 15207528)^{1, 4, 9} Verduci E....Riva E. (2004)
[Relationship between apolipoprotein E and apolipoprotein B polymorphisms in youths with coronary heart disease] (PubMed id 12778454)^{1, 4, 9} Li S....Wu S.F. (2003)
[VNTR3' polymorphism of apoliproprotein B gene in obese people] (PubMed id 12368141)^{1, 4, 9} Jemaa R....Mebazaa A. (2002)
[Study of the association between constitutional exogenous obesity and polymorphism of the apolipoprotein B gene] (PubMed id 11898622)^{1, 4, 9} Iatsyshina S.B....Rogaev E.I. (2002)
[Apolipoprotein genes in patients with ischemic heart disease] (PubMed id 11840804)^{1, 4, 9} Baitasova N.B....Shchuratova S.G. (2001)
Genetic influences on lipid metabolism trait variability within the Stanislas Cohort. (PubMed id 11714857)^{1, 4, 9} Pallaud C....Visvikis S. (2001)
Apolipoprotein A-I/C-III/A-IV SstI and apolipoprotein B XbaI polymorphisms and their association with carotid artery intima-media thickness in the Finnish population. The Cardiovascular Risk in Young Finns Study. (PubMed id 15823278)^{1, 4, 9} Islam M.S....Lehtimaki T. (2005)
[Association of polymorphic markers of lipid metabolism genes with diabetic polyneuropathy in type 1 diabetes mellitus] (PubMed id 15856946)^{1, 4, 9} Voron'ko O.E....Nosikov V.V. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 338	HGNC: 603	AceView: APOB	Ensembl:ENSG00000084674	euGenes: HUgn338
ECgene: APOB	Kegg: 338	H-InvDB: APOB

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for APOB	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOB
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOB
Wikipedia	http://en.wikipedia.org/wiki/Apolipoprotein_B

Intellectual Property for APOB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for APOB gene:
Search GeneIP for patents involving APOB

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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In Situ Hybridization Assays from
Advanced Cell Diagnostics
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APOB Gene

apolipoprotein B (including Ag(x) antigen)

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Fatty Liver
Microalbuminuria
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
CORNEAL ARCUS
Hyperinsulinemia
essential hypertension
Peripheral Vascular Diseases
HYPERALPHALIPOPROTEINEMIA
Acute myocardial infarction
Hyperlipidemia
Glucose Intolerance
Hypertriglyceridemias Familial
insulin sensitivity
Myocardial Ischemia
Atherosclerosis
Vitamin E Deficiency
Liver diseases
ENDOGENOUS HYPERTRIGLYCERIDEMIA
Hypercholesterolemia
Rheumatic Diseases
Nephrotic Syndrome
Coronary Stenosis
CETP DEFICIENCY
Diabetes Mellitus Insulin-Dependent
Hydrocephalus
Coronary Atherosclerosis
Hyperlipidemia Familial Combined
Lipid Disorders
Dyslipidemia
Maculopathy Age-Related
RENAL DISEASE
hypolipidemia
Inflammation
Xanthoma
Diabetic Nephropathies
Proteinuria
Hyperlipoproteinemia Type III
Hyperglycemia
LCAT deficiency
familial disorder
Cardiovascular Diseases
metabolic disorder
Lymphoblastic Leukemia Acute
Tangier Disease
SMOKING HABIT
Hepatoblastoma
Carotid Atherosclerosis
Coronary Heart Disease
HYPERURICEMIA
APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
Hypoalphalipoproteinemia
lipoprotein disorder
HYPERTENSION ARTERIAL
Cholesterolosis
Malabsorption
Venous Thrombosis
Abetalipoproteinemia
atherosclerotic plaque
Astrocytoma
Infarction Lacunar
Hypothyroidism
Alzheimers Disease
Diabetes Mellitus
Hyperlipoproteinemia
Combined hyperlipidemia
Arteriosclerosis
Andersons disease
CHYLOMICRON RETENTION DISEASE
chronic pancreatitis
Myocardial Infarction
Albuminuria
dyslipoproteinemia
Coronary Artery Disease
Hypobetalipoproteinemia
Heart Diseases
Response Acute Phase
Insulin Resistance
HIV Infections
impaired glucose tolerance
Hypertriglyceridemia
OBESITY
Lipodystrophy
Mixed hyperlipidemia
HYPOCHOLESTEROLEMIA
STROKE
Vascular Diseases
DYSFUNCTION THYROID
Brain Diseases
CEREBROVASCULAR DISEASE
genetic disorder
NIDDM
Hypercholesterolemia Familial
Carotid Artery Diseases
Renal Failure Chronic

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APOB Gene

apolipoprotein B (including Ag(x) antigen)

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