Free for academic non-profit institutions. Other users need a Commercial license
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 Statin Pathway. 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 | 250.7 | 0.0 | -19 | 0.1 | HOMEZ RXRA HNF4A RAD21 ZNF652 REST SP1 HNF1A TAF1 YY1 | ANGPTL3 HSALNG0004069 DOCK7 USP1 | |
GH01J062621 | Enhancer | 1.2 | Ensembl ENCODE | 12.2 | +25.0 | 24981 | 3 | ZSCAN16 BCL11A MXD4 CEBPA BHLHE40 HOMEZ KDM6A THAP11 CEBPB ZNF513 | ANGPTL3 HSALNG0004072 lnc-KANK4-3 DOCK7 | |
GH01J062625 | Enhancer | 0.6 | Ensembl | 12.2 | +28.2 | 28155 | 0.5 | TRIM22 ZNF316 ELF1 NFATC1 ZNF217 MAFK IKZF1 ATF7 TARDBP MTA2 | DOCK7 ANGPTL3 lnc-KANK4-3 HSALNG0004072 | |
GH01J062514 | Promoter | 0.6 | Ensembl | 11.2 | -82.2 | -82219 | 0.2 | CEBPA ZNF384 CREB1 | ANGPTL3 piR-33614-006 HSALNG0004067 USP1 DOCK7 | |
GH01J062567 | Enhancer | 0.5 | Ensembl | 12 | -29.5 | -29519 | 0.8 | CEBPA FOXA2 CEBPG PPARG SOX13 FOXA3 | DOCK7 ANGPTL3 HSALNG0004069 USP1 |
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 | IBA,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 |
.40
|
|
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 |
---|---|---|---|---|---|
rs111414963 | Likely Benign: not provided | 62,598,765(+) |
T/C NM_014495.4(ANGPTL3):c.565T>C (p.Leu189=) |
SYNONYMOUS_VARIANT,INTRON | |
rs200785483 | Pathogenic: Hypobetalipoproteinemia, familial, 2 | 62,597,951(+) |
G/T NM_014495.4(ANGPTL3):c.385G>T (p.Glu129Ter) |
NONSENSE,INTRON | |
rs267606655 | Pathogenic: Hypobetalipoproteinemia, familial, 2 | 62,597,616(+) |
CC/GA NM_014495.4(ANGPTL3):c.50_51delinsGA (p.Ser17Ter) |
NONSENSE,INTRON | |
rs398122985 | Pathogenic: Hypobetalipoproteinemia, familial, 2 | 62,604,236(+) |
G/T NM_014495.4(ANGPTL3):c.1198+1G>T |
SPLICE_DONOR_VARIANT,INTRON | |
rs398122986 | Pathogenic: Hypobetalipoproteinemia, familial, 2 | 62,597,619(+) |
GA/G NM_014495.4(ANGPTL3):c.55del (p.Ile19fs) |
FRAMESHIFT_VARIANT,INTRON |
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 |
|
|