ANGPTL8 Gene (Protein Coding)

Angiopoietin Like 8

GC19P011238
GIFtS:
31

Aliases for ANGPTL8 Gene

Aliases for ANGPTL8 Gene

  • Angiopoietin Like 8 2 3 5
  • Lipasin 2 3 4
  • Refeeding-Induced Fat And Liver Protein 3 4
  • Angiopoietin-Like Protein 8 3 4
  • Betatrophin 2 4
  • C19orf80 3 4
  • RIFL 3 4
  • Hepatocellular Carcinoma-Associated Protein TD26 3
  • Hepatocellular Carcinoma-Associated Gene TD26 3
  • Chromosome 19 Open Reading Frame 80 2
  • Betatrophin Variant 1 3
  • Betatrophin Variant 2 3
  • Angiopoietin-Like 8 2
  • PRO1185 3
  • PVPA599 3
  • TD26 3

External Ids for ANGPTL8 Gene

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 Metabolism and Angiopoietin Like Protein 8 Regulatory Pathway.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.3 -41.2 -41206 7.1 ZBTB40 SREBF1 POLR2A USF2 DACH1 ZNF121 TEAD4 ZNF148 NKRF ELF3 KANK2 AB372777-008 HSALNG0124000 lnc-DOCK6-1 ANGPTL8 ENSG00000242615 ZNF625 ZNF439 SMARCA4 ZNF441
GH19J011239 Promoter 1.1 EPDnew 750.6 +2.2 2150 0.1 FOXA1 MLX RBPJ NR2F1 NR2F6 MIXL1 HLF RERE ELF3 POLR2A ANGPTL8 lnc-KANK2-6 lnc-KANK2-7 DOCK6
GH19J011237 Promoter 0.4 EPDnew 750.6 +0.0 7 0.1 KAT7 ANGPTL8 lnc-KANK2-6 piR-57460-347 DOCK6
GH19J011202 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.8 -33.7 -33740 3.1 CTCF USF2 CC2D1A MAX RAD21 ZKSCAN8 ZNF148 CBFA2T2 ZNF687 SMARCA4 ENSG00000267082 LOC105372273 ANGPTL8 DOCK6 KANK2 ENSG00000279807
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANGPTL8 on UCSC Golden Path with GeneCards custom track

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)
Size:
4,442 bases
Orientation:
Plus strand

Genomic View for ANGPTL8 Gene

Genes around ANGPTL8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANGPTL8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANGPTL8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ANGPTL8 Gene

Proteins for ANGPTL8 Gene

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  • Protein details for ANGPTL8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXH0-ANGL8_HUMAN
    Recommended name:
    Angiopoietin-like protein 8
    Protein Accession:
    Q6UXH0
    Secondary Accessions:
    • 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};

neXtProt entry for ANGPTL8 Gene

Post-translational modifications for ANGPTL8 Gene

Other Protein References for ANGPTL8 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for ANGPTL8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANGPTL8 Gene

GenScript: Design optimal peptide antigens:
  • LOC55908 protein (Q29RX7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXH0

UniProtKB/Swiss-Prot:

ANGL8_HUMAN :
  • Belongs to the ANGPTL8 family.
Family:
  • Belongs to the ANGPTL8 family.
genes like me logo Genes that share domains with ANGPTL8: view

Function for ANGPTL8 Gene

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  2. CRISPR
  3. miRNA
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  6. Cell Line

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

Gene Ontology (GO) - Molecular Function for ANGPTL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with ANGPTL8: view
genes like me logo Genes that share phenotypes with ANGPTL8: view

Animal Models for ANGPTL8 Gene

MGI Knock Outs for ANGPTL8:

Animal Model Products

  • Taconic Biosciences Mouse Models for ANGPTL8

CRISPR Products

Clone Products

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.

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 ANGPTL8 gene
Compartment Confidence
extracellular 5
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANGPTL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IBA --
genes like me logo Genes that share ontologies with ANGPTL8: view

Pathways & Interactions for ANGPTL8 Gene

genes like me logo Genes that share pathways with ANGPTL8: view

Pathways by source for ANGPTL8 Gene

1 BioSystems pathway for ANGPTL8 Gene
1 KEGG pathway for ANGPTL8 Gene

Interacting Proteins for ANGPTL8 Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q6UXH0-ANGL8_HUMAN ENSP00000479969 for ANGPTL8 Gene via UniProtKB STRING IID

GPS-Prot Interaction Network for ANGPTL8

Gene Ontology (GO) - Biological Process for ANGPTL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0010954 positive regulation of protein processing IDA 23150577
GO:0019216 regulation of lipid metabolic process IDA,IBA 25417115
GO:0044255 cellular lipid metabolic process IEA,ISS --
genes like me logo Genes that share ontologies with ANGPTL8: view

No data available for SIGNOR curated interactions for ANGPTL8 Gene

Drugs & Compounds for ANGPTL8 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ANGPTL8 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ANGPTL8 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANGPTL8 Gene

No ASD Table

Relevant External Links for ANGPTL8 Gene

GeneLoc Exon Structure for
ANGPTL8
ECgene alternative splicing isoforms for
ANGPTL8

Expression for ANGPTL8 Gene

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  1. Primer
  2. Gene Expression Assay

NURSA nuclear receptor signaling pathways regulating expression of ANGPTL8 Gene:

ANGPTL8

mRNA 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)

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.

Orthologs for ANGPTL8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia C19H19orf80 32
  • 99.49 (n)
C19orf80 33
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia C20H19orf80 32
  • 84.01 (n)
C19orf80 33
  • 77 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia C7H19orf80 32
  • 80.64 (n)
C19orf80 33
  • 69 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gm6484 33 32
  • 76.6 (n)
 OneToOne
Angptl8 17
rat
(Rattus norvegicus)
 Mammalia LOC100361444 32
  • 73.74 (n)
oppossum
(Monodelphis domestica)
 Mammalia C19orf80 33
  • 39 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia C19orf80 33
  • 35 (a)
 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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ANGPTL8 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs199916274 uncertain-significance, not provided 11,237,675(+) G/A upstream_transcript_variant
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

Structural Variations from Database of Genomic Variants (DGV) for ANGPTL8 Gene

Variant ID Type Subtype PubMed ID
nsv1060605 CNV gain 25217958
nsv519802 CNV loss 19592680
nsv523678 CNV loss 19592680
nsv525977 CNV loss 19592680
nsv578614 CNV loss 21841781
nsv833752 CNV loss 17160897

Variation tolerance for ANGPTL8 Gene

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

Human Gene Mutation Database (HGMD)
ANGPTL8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANGPTL8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANGPTL8 Gene

Disorders for ANGPTL8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ANGPTL8 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
breast angiosarcoma
  • hemangiosarcoma of the breast
breast sarcoma
  • sarcoma of breast
lipomatosis, multiple symmetric
  • msl
diabetes mellitus
  • diabetes
diabetes mellitus, insulin-dependent
  • iddm
- elite association - COSMIC cancer census association via MalaCards

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 body's 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

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANGPTL8: view

No data available for Genatlas for ANGPTL8 Gene

Publications for ANGPTL8 Gene

  1. 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 56
  2. 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 56
  3. 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 56
  4. Elevated circulating lipasin/betatrophin in human type 2 diabetes and obesity. (PMID: 24852694) Fu Z … Zhang R (Scientific reports 2014) 3 4 56
  5. Chromosome 19 open reading frame 80 is upregulated by thyroid hormone and modulates autophagy and lipid metabolism. (PMID: 24262987) Tseng YH … Lin KH (Autophagy 2014) 2 3 56

ExternalLinks

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