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 angiogen... See more...

Aliases for ANGPTL3 Gene

Aliases for ANGPTL3 Gene

  • Angiopoietin Like 3 2 3 5
  • Angiopoietin-Related Protein 3 3 4
  • Angiopoietin 5 2 3
  • ANGPT5 3 4
  • ANG-5 3 4
  • Angiopoietin-Like Protein 3 4
  • Angiopoietin-Like 3 2
  • Angiopoietin-5 4
  • ANGPTL3 5
  • FHBL2 3
  • ANL3 3

External Ids for ANGPTL3 Gene

Previous HGNC Symbols for ANGPTL3 Gene

  • ANGPT5

Previous GeneCards Identifiers for ANGPTL3 Gene

  • GC01P062998
  • GC01P061986
  • GC01P062420
  • GC01P062433
  • GC01P062775
  • GC01P061175

Summaries for ANGPTL3 Gene

Entrez Gene Summary for ANGPTL3 Gene

  • 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]

GeneCards Summary for ANGPTL3 Gene

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 Statin Pathway and Lipoprotein 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.

UniProtKB/Swiss-Prot Summary for ANGPTL3 Gene

  • Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity).
  • [ANGPTL3(17-221)]: In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL.
  • Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity).

Gene Wiki entry for ANGPTL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANGPTL3 Gene

Genomics for ANGPTL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANGPTL3 Gene
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 YY1 HOMEZ RXRA HNF4A RAD21 ZNF652 REST SP1 HNF1A TAF1 ANGPTL3 HSALNG0004069 DOCK7 USP1
GH01J062621 Enhancer 1.2 Ensembl ENCODE 12.2 +25.0 24981 3 ZNF207 MYC SSRP1 JUND ZNF592 CEBPA ATF3 ZSCAN16 YY1 MXD4 ANGPTL3 HSALNG0004072 lnc-KANK4-3 DOCK7
GH01J062625 Enhancer 0.6 Ensembl 12.2 +28.2 28155 0.5 TRIM22 ZNF316 ELF1 NFATC1 MAFK ZNF217 IKZF1 TARDBP MTA2 DPF2 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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANGPTL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANGPTL3

Top Transcription factor binding sites by QIAGEN in the ANGPTL3 gene promoter:
  • FOXF2
  • FOXL1
  • HNF-1A
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)
  • STAT3

Genomic Locations for ANGPTL3 Gene

Latest Assembly
chr1:62,597,520-62,606,313
(GRCh38/hg38)
Size:
8,794 bases
Orientation:
Plus strand

Previous Assembly
chr1:63,063,191-63,071,984
(GRCh37/hg19 by Entrez Gene)
Size:
8,794 bases
Orientation:
Plus strand

chr1:63,063,158-63,071,830
(GRCh37/hg19 by Ensembl)
Size:
8,673 bases
Orientation:
Plus strand

Genomic View for ANGPTL3 Gene

Genes around ANGPTL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANGPTL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANGPTL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANGPTL3 Gene

Proteins for ANGPTL3 Gene

  • Protein details for ANGPTL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5C1-ANGL3_HUMAN
    Recommended name:
    Angiopoietin-related protein 3
    Protein Accession:
    Q9Y5C1
    Secondary Accessions:
    • A0JLS0
    • B1ALJ0
    • B2RCW1

    Protein attributes for ANGPTL3 Gene

    Size:
    460 amino acids
    Molecular mass:
    53637 Da
    Quaternary structure:
    • Interacts with ANGPTL8. Interacts with ITGB3 (By similarity).
    SequenceCaution:
    • Sequence=AAH07059.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
    Miscellaneous:
    • Was suggested to inhibit LPL through a direct mechanism; however, the necessary concentration to achieve in vitro inhibition is at least 30-fold higher than ANGPTL3 plasma concentration.

    Three dimensional structures from OCA and Proteopedia for ANGPTL3 Gene

neXtProt entry for ANGPTL3 Gene

Post-translational modifications for ANGPTL3 Gene

  • O-glycosylated at Thr-226 by GALNT2; blocks processing and activation by proprotein convertases.
  • In part proteolytically cleaved by proprotein convertases; proposed to be involved in activation.
  • Glycosylation at Asn23, Asn115, Thr226, Asn296, and Asn357
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ANGL3_HUMAN (1010)

Other Protein References for ANGPTL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANGPTL3 Gene

Domains & Families for ANGPTL3 Gene

Gene Families for ANGPTL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ANGPTL3 Gene

InterPro:
Blocks:
  • Fibrinogen, beta/gamma chain, C-terminal globular
  • Spectrin repeat

Suggested Antigen Peptide Sequences for ANGPTL3 Gene

GenScript: Design optimal peptide antigens:
  • ANGPTL3 protein (A0JLS0_HUMAN)
  • Angiopoietin-like protein 3 (ANGL3_HUMAN)
  • Angiopoietin-related protein 3 (B1ALJ0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5C1

UniProtKB/Swiss-Prot:

ANGL3_HUMAN :
  • The fibrinogen C-terminal domain is sufficient to mediate endothelial cell adhesion.
Domain:
  • The fibrinogen C-terminal domain is sufficient to mediate endothelial cell adhesion.
genes like me logo Genes that share domains with ANGPTL3: view

Function for ANGPTL3 Gene

Molecular function for ANGPTL3 Gene

UniProtKB/Swiss-Prot Function:
Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity).
UniProtKB/Swiss-Prot Function:
[ANGPTL3(17-221)]: In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL.
UniProtKB/Swiss-Prot Function:
Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity).
UniProtKB/Swiss-Prot Induction:
Down-regulated by insulin.
GENATLAS Biochemistry:
angiopoietin-like 3,predominantly expressed in the liver

Phenotypes From GWAS Catalog for ANGPTL3 Gene

Gene Ontology (GO) - Molecular Function for ANGPTL3 Gene

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
genes like me logo Genes that share ontologies with ANGPTL3: view
genes like me logo Genes that share phenotypes with ANGPTL3: view

Human Phenotype Ontology for ANGPTL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANGPTL3 Gene

MGI Knock Outs for ANGPTL3:

Animal Models for research

  • Taconic Biosciences Mouse Models for ANGPTL3

miRNA for ANGPTL3 Gene

miRTarBase miRNAs that target ANGPTL3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANGPTL3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ANGPTL3 Gene

Localization for ANGPTL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANGPTL3 Gene

Secreted. Cell projection, lamellipodium. Note=Colocalized with HSPG2 and activated ITGB3 on podocytes. {ECO:0000250 UniProtKB:Q9R182}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANGPTL3 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
endosome 3
plasma membrane 2
peroxisome 2
nucleus 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ANGPTL3 Gene

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
genes like me logo Genes that share ontologies with ANGPTL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANGPTL3 Gene

Pathways & Interactions for ANGPTL3 Gene

genes like me logo Genes that share pathways with ANGPTL3: view

Pathways by source for ANGPTL3 Gene

Gene Ontology (GO) - Biological Process for ANGPTL3 Gene

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
genes like me logo Genes that share ontologies with ANGPTL3: view

No data available for SIGNOR curated interactions for ANGPTL3 Gene

Drugs & Compounds for ANGPTL3 Gene

(2) Drugs for ANGPTL3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Evinacumab Approved, Investigational Pharma Target, inhibitor 0

(2) Additional Compounds for ANGPTL3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANGPTL3: view

Transcripts for ANGPTL3 Gene

mRNA/cDNA for ANGPTL3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANGPTL3

Alternative Splicing Database (ASD) splice patterns (SP) for ANGPTL3 Gene

No ASD Table

Relevant External Links for ANGPTL3 Gene

GeneLoc Exon Structure for
ANGPTL3

Expression for ANGPTL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANGPTL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANGPTL3 Gene

This gene is overexpressed in Liver (x50.1).

Protein differential expression in normal tissues from HIPED for ANGPTL3 Gene

This gene is overexpressed in Serum (67.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANGPTL3 Gene



Protein tissue co-expression partners for ANGPTL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANGPTL3

SOURCE GeneReport for Unigene cluster for ANGPTL3 Gene:

Hs.209153

mRNA Expression by UniProt/SwissProt for ANGPTL3 Gene:

Q9Y5C1-ANGL3_HUMAN
Tissue specificity: Expressed principally in liver. Weakly expressed in kidney. Binds to adipocytes. Increased expression and colocalization with activated ITGB3 in glomeruli of patients with nephrotic syndrome showing effaced podocyte foot processes (at protein level).

Evidence on tissue expression from TISSUES for ANGPTL3 Gene

  • Liver(4.9)
  • Muscle(4.4)
  • Bone marrow(4.2)
  • Kidney(2.8)
  • Heart(2.2)
  • Intestine(2.2)
  • Blood(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANGPTL3 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
Head and neck:
  • ear
Thorax:
  • heart
General:
  • blood vessel
genes like me logo Genes that share expression patterns with ANGPTL3: view

Primer products for research

Orthologs for ANGPTL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANGPTL3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ANGPTL3 29 30
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANGPTL3 29 30
  • 90.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANGPTL3 29 30
  • 88.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Angptl3 29
  • 83.12 (n)
Mouse
(Mus musculus)
Mammalia Angptl3 29 16 30
  • 80.4 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANGPTL3 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ANGPTL3 30
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ANGPTL3 29 30
  • 64.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANGPTL3 30
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC496885 29
  • 62.66 (n)
Zebrafish
(Danio rerio)
Actinopterygii angptl3 29 30
  • 55.8 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9678 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG7668 30
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T15B7.1 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for ANGPTL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ANGPTL3 Gene

ENSEMBL:
Gene Tree for ANGPTL3 (if available)
TreeFam:
Gene Tree for ANGPTL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANGPTL3: view image
Alliance of Genome Resources:
Additional Orthologs for ANGPTL3

Paralogs for ANGPTL3 Gene

(4) SIMAP similar genes for ANGPTL3 Gene using alignment to 3 proteins:

  • ANGL3_HUMAN
  • A0JLS0_HUMAN
  • B1ALJ0_HUMAN
genes like me logo Genes that share paralogs with ANGPTL3: view

Variants for ANGPTL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANGPTL3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1031835 Pathogenic: Hypobetalipoproteinemia, familial, 2 62,604,765(+) T/TA
NM_014495.4(ANGPTL3):c.1335dup (p.Ser446fs)
FRAMESHIFT_VARIANT,INTRON
1031836 Pathogenic: Hypobetalipoproteinemia, familial, 2 62,598,774(+) CA/C
NM_014495.4(ANGPTL3):c.575del (p.Gln192fs)
FRAMESHIFT_VARIANT,INTRON
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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ANGPTL3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ANGPTL3 Gene

Variant ID Type Subtype PubMed ID
nsv1000988 CNV loss 25217958
nsv1011203 CNV loss 25217958
nsv1014376 CNV loss 25217958

Variation tolerance for ANGPTL3 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANGPTL3 Gene

Human Gene Mutation Database (HGMD)
ANGPTL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANGPTL3
Leiden Open Variation Database (LOVD)
ANGPTL3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANGPTL3 Gene

Disorders for ANGPTL3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ANGPTL3 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
hypobetalipoproteinemia, familial, 2
  • fhbl2
hypobetalipoproteinemia, familial, 1
  • fhbl1
atherosclerosis susceptibility
  • aths
nephrotic syndrome
  • finnish congenital nephrotic syndrome
hyperlipoproteinemia, type i
  • lipoprotein lipase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANGL3_HUMAN
  • Hypobetalipoproteinemia, familial, 2 (FHBL2) [MIM:605019]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides. {ECO:0000269 PubMed:20942659}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=May be involved in atherosclerosis. Plasma levels are closely associated with arterial wall thickness. {ECO:0000305 PubMed:17191020}.
  • Note=May be involved in nephrotic syndrome. {ECO:0000305 PubMed:25710887}.

Additional Disease Information for ANGPTL3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ANGPTL3: view

No data available for Genatlas for ANGPTL3 Gene

Publications for ANGPTL3 Gene

  1. Identification of a mammalian angiopoietin-related protein expressed specifically in liver. (PMID: 10644446) Conklin D … Lewis KB (Genomics 1999) 2 3 4 22
  2. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. (PMID: 20942659) Musunuru K … Kathiresan S (The New England journal of medicine 2010) 3 4 72
  3. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. (PMID: 19075393) Romeo S … Cohen JC (The Journal of clinical investigation 2009) 3 4 22
  4. The angiopoietin-like proteins ANGPTL3 and ANGPTL4 inhibit lipoprotein lipase activity through distinct mechanisms. (PMID: 19028676) Shan L … Liu Q (The Journal of biological chemistry 2009) 3 4 22
  5. Angiopoietin-like protein 3 modulates barrier properties of human glomerular endothelial cells through a possible signaling pathway involving phosphatidylinositol-3 kinase/protein kinase B and integrin alphaVbeta3. (PMID: 18535744) Li Y … Zha X (Acta biochimica et biophysica Sinica 2008) 3 4 22

Products for ANGPTL3 Gene

  • Biorbyt antibodies for ANGPTL3

Sources for ANGPTL3 Gene