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This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]
ANGPTL3 (Angiopoietin Like 3) is a Protein Coding gene. Diseases associated with ANGPTL3 include Hypobetalipoproteinemia, Familial, 2 and Hypobetalipoproteinemia, Familial, 1. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include growth factor activity and enzyme inhibitor activity. An important paralog of this gene is ANGPTL1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J062597 | Promoter | 0.7 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | SP1 YY1 RAD21 HOMEZ HNF4A RXRA REST TAF1 ZNF652 HNF1A | ANGPTL3 lnc-ANGPTL3-1 ENSG00000270549 DOCK7 USP1 | |
GH01J062621 | Enhancer | 1.2 | Ensembl ENCODE | 12.2 | +25.3 | 25280 | 3.6 | CREB1 GATAD2A ATF7 REST ZNF629 TFE3 SOX13 NFKBIZ ZNF692 RCOR2 | ANGPTL3 lnc-KANK4-3 ENSG00000278967 DOCK7 | |
GH01J062538 | Enhancer | 0.9 | Ensembl ENCODE | 11.5 | -59.2 | -59200 | 3 | IKZF1 JUND DPF2 HDAC1 EP300 HMBOX1 EP400 NCOR1 STAT5A FOXM1 | DOCK7 ANGPTL3 PATJ ENSG00000270549 lnc-ANGPTL3-1 USP1 | |
GH01J062625 | Enhancer | 0.6 | Ensembl | 12.2 | +28.2 | 28155 | 0.5 | TRIM22 DPF2 RELB RUNX3 ZNF316 ARNT ELF1 MAFK TBX21 ATF7 | DOCK7 ANGPTL3 lnc-KANK4-3 ENSG00000278967 | |
GH01J062514 | Promoter | 0.6 | Ensembl | 11.2 | -82.2 | -82219 | 0.2 | CEBPA CEBPB CREB1 ZNF384 | ANGPTL3 piR-33614-006 piR-37663-001 USP1 DOCK7 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004857 | enzyme inhibitor activity | IEA,ISS | -- |
GO:0004859 | phospholipase inhibitor activity | IDA | 17110602 |
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0005178 | integrin binding | IPI | 11877390 |
GO:0008083 | growth factor activity | IDA | 11877390 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 17110602 |
GO:0005769 | early endosome | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0009986 | cell surface | IEA,IDA | 12565906 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lipoprotein metabolism | ||
2 | Metabolism |
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|
|
3 | Statin Pathway | ||
4 | Integrins in angiogenesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0006071 | glycerol metabolic process | IDA | 12565906 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IDA | 12565906 |
GO:0006644 | phospholipid metabolic process | IDA | 17110602 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ANGPTL3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ANGPTL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ANGPTL3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Angptl3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Angptl3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ANGPTL3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ANGPTL3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ANGPTL3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ANGPTL3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC496885 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | angptl3 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9678 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7668 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T15B7.1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
745111 | Likely Benign: not provided | 62,598,765(+) | T/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
775556 | Benign: not provided | 62,601,823(+) | T/C | MISSENSE_VARIANT,INTRON_VARIANT | |
rs200785483 | Pathogenic: Hypobetalipoproteinemia, familial, 2 | 62,597,951(+) | G/T | NONSENSE,INTRON_VARIANT | |
rs267606655 | Pathogenic: Hypobetalipoproteinemia, familial, 2 | 62,597,616(+) | CC/GA | NONSENSE,INTRON_VARIANT | |
rs398122985 | Pathogenic: Hypobetalipoproteinemia, familial, 2 | 62,604,236(+) | G/T | SPLICE_DONOR_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1000988 | CNV | loss | 25217958 |
nsv1011203 | CNV | loss | 25217958 |
nsv1014376 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypobetalipoproteinemia, familial, 2 |
|
|
hypobetalipoproteinemia, familial, 1 |
|
|
atherosclerosis susceptibility |
|
|
hyperlipoproteinemia, type i |
|
|
hypolipoproteinemia |
|
|