Aliases for ANGPTL8 Gene
Aliases for ANGPTL8 Gene
External Ids for ANGPTL8 Gene
- HGNC: 24933
- Entrez Gene: 55908
- Ensembl: ENSG00000130173
- OMIM: 616223
- UniProtKB: Q6UXH0
Previous HGNC Symbols for ANGPTL8 Gene
- C19orf80
Summaries for ANGPTL8 Gene
GeneCards Summary for ANGPTL8 Gene
ANGPTL8 (Angiopoietin Like 8) is a Protein Coding gene. Diseases associated with ANGPTL8 include Breast Angiosarcoma and Breast Sarcoma. Among its related pathways are Lipoprotein metabolism and Metabolism.
UniProtKB/Swiss-Prot for ANGPTL8 Gene
-
Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels (PubMed:22569073, PubMed:22809513, PubMed:23150577). May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity).
Additional gene information for ANGPTL8 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANGPTL8 Gene
Genomics for ANGPTL8 Gene
GeneHancer (GH) Regulatory Elements for ANGPTL8 Gene
Promoters and enhancers for ANGPTL8 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH19J011192 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE dbSUPER | 650.3 | -41.2 | -41206 | 7.1 | HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF213 ZNF143 SP3 REST | KANK2 ANGPTL8 ENSG00000267082 ENSG00000267174 GC19P011173 DOCK6 | |
| GH19J011239 | Promoter | 1.3 | EPDnew | 650.7 | +2.2 | 2150 | 0.1 | MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 ATF7 NFKBIZ | ANGPTL8 GC19M011235 GC19M011246 DOCK6 | |
| GH19J011237 | Promoter | 0.6 | EPDnew | 650.7 | +0.0 | 7 | 0.1 | KAT7 | ANGPTL8 GC19M011235 DOCK6 | |
| GH19J011202 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 12.8 | -33.7 | -33740 | 3.1 | KLF17 ZNF48 RAD21 RARA GATA2 ARID2 ZNF143 FOS RUNX3 SMARCA5 | ENSG00000267082 LOC105372273 ANGPTL8 DOCK6 KANK2 GC19P011210 | |
| GH19J011234 | Enhancer | 0.6 | ENCODE | 0.7 | -2.8 | -2790 | 0.2 | ZNF280D ZNF623 ATF2 JUND RCOR2 CREB1 KDM1A ATF7 CREM | GC19M011233 ANGPTL8 DOCK6 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ANGPTL8 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ANGPTL8 Gene
Genomic Locations for ANGPTL8 Gene
- chr19:11,237,450-11,241,943
- (GRCh38/hg38)
- Size:
- 4,494 bases
- Orientation:
- Plus strand
- chr19:11,348,178-11,352,619
- (GRCh37/hg19)
Genomic View for ANGPTL8 Gene
Genes around ANGPTL8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by Entrez Gene
- 19p13.2 by HGNC
- 19p13.2 by Ensembl
ANGPTL8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ANGPTL8 Gene
Proteins for ANGPTL8 Gene
-
Protein details for ANGPTL8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6UXH0-ANGL8_HUMAN
- Recommended name:
- Angiopoietin-like protein 8
- Protein Accession:
- Q6UXH0
- Q9NQZ1
Protein attributes for ANGPTL8 Gene
- Size:
- 198 amino acids
- Molecular mass:
- 22105 Da
- Quaternary structure:
-
- Interacts with ANGPTL3.
- SequenceCaution:
-
- Sequence=AAF76204.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW84186.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Post-translational modifications for ANGPTL8 Gene
- Proteolytically cleaved at the N-terminus.
Other Protein References for ANGPTL8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
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Protein Products
-
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Assay Products
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No data available for DME Specific Peptides for ANGPTL8 Gene
Domains & Families for ANGPTL8 Gene
Gene Families for ANGPTL8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Graphical View of Domain Structure for InterPro Entry
Q6UXH0- Family:
-
- Belongs to the ANGPTL8 family.
No data available for Suggested Antigen Peptide Sequences for ANGPTL8 Gene
Function for ANGPTL8 Gene
Molecular function for ANGPTL8 Gene
- UniProtKB/Swiss-Prot Function:
- Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels (PubMed:22569073, PubMed:22809513, PubMed:23150577). May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity).
- UniProtKB/Swiss-Prot Induction:
- In response to food intake. Stimulated by insulin.
Phenotypes From GWAS Catalog for ANGPTL8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005179 | hormone activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 21988832 |
Phenotypes for ANGPTL8 Gene
- MGI mutant phenotypes for ANGPTL8:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ANGPTL8:
Animal Models for ANGPTL8 Gene
Animal Model Products
-
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-
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-
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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-
Horizon Cell Lines for ANGPTL8
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ANGPTL8 Gene
Localization for ANGPTL8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANGPTL8 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| cytosol | 1 |
- Golgi apparatus (2)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
Pathways & Interactions for ANGPTL8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Statin Pathway | ||
| 4 | Angiopoietin Like Protein 8 Regulatory Pathway | ||
Pathways by source for ANGPTL8 Gene
1 BioSystems pathway for ANGPTL8 Gene
5 Reactome pathways for ANGPTL8 Gene
1 KEGG pathway for ANGPTL8 Gene
Interacting Proteins for ANGPTL8 Gene
Selected Interacting proteins:
Q6UXH0-ANGL8_HUMAN
ENSP00000252453
for ANGPTL8 Gene via
IID
STRING
UniProtKB
GPS-Prot Interaction Network for ANGPTL8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0010469 | regulation of signaling receptor activity | IEA | -- |
| GO:0010954 | positive regulation of protein processing | IDA | 23150577 |
| GO:0019216 | regulation of lipid metabolic process | IDA | 25417115 |
| GO:0044255 | cellular lipid metabolic process | ISS,IEA | -- |
No data available for SIGNOR curated interactions for ANGPTL8 Gene
Transcripts for ANGPTL8 Gene
mRNA/cDNA for ANGPTL8 Gene
- (15) Selected AceView cDNA sequences:
- (1) REFSEQ mRNAs :
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000252453 872 bps (uc021upg.1)
- ENST00000587543 432 bps (uc060tpw.1)
- ENST00000591200 504 bps (uc010dxw.4)
- ENST00000616433 1223 bps (uc021upf.2)
CRISPR Products
-
OriGene CRISPR knockouts for ANGPTL8
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-
Vectors and viruses for KO, Activation, Repression, and more
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for ANGPTL8
- VectorBuilder custom plasmid, inducible vectors for ANGPTL8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANGPTL8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ANGPTL8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ANGPTL8
- Applied Biological Materials Clones for ANGPTL8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for ANGPTL8 (Angiopoietin-like Protein 8/Betatrophin)
Expression for ANGPTL8 Gene
NURSA nuclear receptor signaling pathways regulating expression of ANGPTL8 Gene:
ANGPTL8mRNA Expression by UniProt/SwissProt for ANGPTL8 Gene:
Q6UXH0-ANGL8_HUMAN
Tissue specificity:
Predominantly expressed in liver. Also expressed in adipose tissues.
Evidence on tissue expression from TISSUES for ANGPTL8 Gene
- Liver(2.7)
- Pancreas(2.2)
Primer Products
-
OriGene qPCR primer pairs for ANGPTL8
- genomics-online: primer clones - Search results for 24 available C19ORF80 gene related products
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Gene Expression Assay Products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANGPTL8 Gene
Orthologs for ANGPTL8 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C19H19orf80 33 |
|
||
| C19orf80 34 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C20H19orf80 33 |
|
||
| C19orf80 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | C7H19orf80 33 |
|
||
| C19orf80 34 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Gm6484 34 33 |
|
OneToOne | |
| Angptl8 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | LOC100361444 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | C19orf80 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | C19orf80 34 |
|
OneToOne |
- Species where no ortholog for ANGPTL8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- chicken (Gallus gallus)
- 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)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for ANGPTL8 Gene
- ENSEMBL:
- Gene Tree for ANGPTL8 (if available)
- TreeFam:
- Gene Tree for ANGPTL8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ANGPTL8: view image
Paralogs for ANGPTL8 Gene
No data available for Paralogs for ANGPTL8 Gene
Variants for ANGPTL8 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000036199 | -- | 11,241,128(+) | C/A | intron_variant | |
| rs1000903662 | -- | 11,241,798(+) | C/A/T | 3_prime_UTR_variant | |
| rs1001208423 | -- | 11,240,732(+) | C/T | intron_variant | |
| rs1002643598 | -- | 11,239,564(+) | C/G | upstream_transcript_variant | |
| rs1002868063 | -- | 11,239,309(+) | T/C | upstream_transcript_variant |
Gene Damage Index Score:
5.65;
72.75% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ANGPTL8 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANGPTL8 Gene
Disorders for ANGPTL8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| breast angiosarcoma |
|
|
| breast sarcoma |
|
|
| lipomatosis, multiple symmetric |
|
|
| diabetes mellitus |
|
|
| diabetes mellitus, insulin-dependent |
|
|
Search ANGPTL8 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ANGL8_HUMAN- Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000305 PubMed:24078058}. Note=The gene represented in this entry may be involved in disease pathogenesis. Increased protein levels are observed in the serum of patients. This result should however be reinvestigated in light of recent advances that suggest that this protein is not promoting pancreatic beta cell proliferation. {ECO:0000305 PubMed:24078058}.
- Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000305 PubMed:24852694, ECO:0000305 PubMed:24963292, ECO:0000305 PubMed:25024395, ECO:0000305 PubMed:25303484}. Note=The gene represented in this entry may be involved in disease pathogenesis. Increased protein levels are observed in the serum of patients and are associated with insulin resistance (PubMed:25024395, PubMed:25303484, PubMed:24963292, PubMed:24852694). According to another report, protein levels are decreased in the serum of patients (PubMed:25050901). Discrepancies between increased and decreased levels of proteins levels in NIDDM patients may be explained by the use of different kits developed on the market that either use antibodies recognizing the N-terminal or the C-terminal part of the protein (PubMed:25099942). These results should however be reinvestigated in light of recent advances that suggest that this protein is not promoting pancreatic beta cell proliferation. {ECO:0000305 PubMed:24852694, ECO:0000305 PubMed:24963292, ECO:0000305 PubMed:25024395, ECO:0000305 PubMed:25050901, ECO:0000305 PubMed:25099942, ECO:0000305 PubMed:25303484}.
Additional Disease Information for ANGPTL8
No data available for Genatlas for ANGPTL8 Gene
Publications for ANGPTL8 Gene
- Atypical angiopoietin-like protein that regulates ANGPTL3. (PMID: 23150577) Quagliarini F … Hobbs HH (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3 4 58
- Lipasin, a novel nutritionally-regulated liver-enriched factor that regulates serum triglyceride levels. (PMID: 22809513) Zhang R (Biochemical and biophysical research communications 2012) 2 3 4 58
- Circulating betatrophin levels are increased in patients with type 2 diabetes and associated with insulin resistance. (PMID: 25303484) Chen X … Yu X (The Journal of clinical endocrinology and metabolism 2015) 3 4 58
- Circulating betatrophin concentrations are decreased in human obesity and type 2 diabetes. (PMID: 25050901) Gómez-Ambrosi J … Frühbeck G (The Journal of clinical endocrinology and metabolism 2014) 3 4 58
- Increased circulating levels of betatrophin in newly diagnosed type 2 diabetic patients. (PMID: 25024395) Hu H … Yuan G (Diabetes care 2014) 3 4 58
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ANGPTL8
- GeneCopoeia miRNA 3'UTR Target clone products for ANGPTL8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANGPTL8
- Boster Bio Antibodies for ANGPTL8
- Browse Boster Bio ELISA Kits
Sources for ANGPTL8 Gene
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