Gene Gene information from NCBI Gene database.
Entrez ID 27329
Gene name Angiopoietin like 3
Gene symbol ANGPTL3
Synonyms (NCBI Gene)
ANG-5ANGPT5ANL3FHBL2
Chromosome 1
Chromosome location 1p31.3
Summary 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 fib
miRNA miRNA information provided by mirtarbase database.
158
miRTarBase ID miRNA Experiments Reference
MIRT689043 hsa-miR-6890-3p HITS-CLIP 23313552
MIRT689042 hsa-miR-6736-3p HITS-CLIP 23313552
MIRT689041 hsa-miR-4485-5p HITS-CLIP 23313552
MIRT689040 hsa-miR-660-3p HITS-CLIP 23313552
MIRT689039 hsa-miR-939-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0004857 Function Enzyme inhibitor activity IEA
GO:0004857 Function Enzyme inhibitor activity ISS
GO:0004859 Function Phospholipase inhibitor activity IBA
GO:0004859 Function Phospholipase inhibitor activity IDA 17110602
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604774 491 ENSG00000132855
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5C1
Protein name Angiopoietin-related protein 3 (Angiopoietin-5) (ANG-5) (Angiopoietin-like protein 3) [Cleaved into: ANGPTL3(17-221); ANGPTL3(17-224)]
Protein 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 o
PDB 6EUA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00147 Fibrinogen_C 242 454 Fibrinogen beta and gamma chains, C-terminal globular domain Domain
Tissue specificity 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
Sequence
MFTIKLLLFIVPLVISSRIDQDNSSFDSLSPEPKSRFAMLDDVKILANGLLQLGHGLKDF
VHKTKGQINDIFQKLNIFDQSFYDLSLQTSEIKEEEKELRRTTYKLQVKNEEVKNMSLEL
NSKLESLLEEKILLQQKVKYLEEQLTNLIQNQPETPEHPEVTSLKTFVEKQDNSIKDLLQ
TVEDQYKQLNQQHSQIKEIENQLRRTSIQEPTEISLSSKPRAPRTTPFLQLNEIRNVKHD
GIPAECTTIYNRGEHTSGMYAIRPSNSQVFHVYCDVISGSPWTLIQHRIDGSQNFNETWE
NYKYGFGRLDGEFWLGLEKIYSIVKQSNYVLRIELEDWKDNKHYIEYSFYLGNHETNYTL
HLVAITGNVPNAIPENKDLVFSTWDHKAKGHFNCPEGYSGGWWWHDECGENNLNGKYNKP
RAKSKPERRRGLSWKSQNGRLYSIKSTKMLIHPT
DSESFE
Sequence length 460
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholesterol metabolism   Assembly of active LPL and LIPC lipase complexes
NR1H2 & NR1H3 regulate gene expression linked to lipogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial hypobetalipoproteinemia 2 Pathogenic rs267606655, rs200785483, rs398122985, rs398122986, rs398122987, rs398122989 RCV000005684
RCV000005685
RCV000077766
RCV000077767
RCV000077768
RCV000077770
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANGPTL3-related disorder Likely benign rs763259225, rs763902658, rs200655658 RCV003939114
RCV003902013
RCV003976790
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abetalipoproteinemia Associate 27179706
Adenocarcinoma of Lung Inhibit 22048948
Anorexia Nervosa Associate 29695708
Atherosclerosis Associate 29618844, 33580780, 33887960, 37626170
Atherosclerosis Inhibit 34865644, 38243829
Atrophy Associate 35755170
Breast Neoplasms Associate 31642813
Bronchopulmonary Dysplasia Associate 35595912
Carcinoma Hepatocellular Associate 32443377
Carcinoma Renal Cell Associate 34484467, 37919459