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Aliases for C19orf80 Gene

Aliases for C19orf80 Gene

  • Chromosome 19 Open Reading Frame 80 2 3
  • Lipasin 2 3 4
  • Refeeding-Induced Fat And Liver Protein 3 4
  • Betatrophin 2 4
  • ANGPTL8 3 4
  • RIFL 3 4
  • Hepatocellular Carcinoma-Associated Protein TD26 3
  • Hepatocellular Carcinoma-Associated Gene TD26 3
  • Betatrophin Variant 1 3
  • Betatrophin Variant 2 3
  • PRO1185 3
  • PVPA599 3
  • TD26 3

External Ids for C19orf80 Gene

Previous GeneCards Identifiers for C19orf80 Gene

  • GC19P011349

Summaries for C19orf80 Gene

GeneCards Summary for C19orf80 Gene

C19orf80 (Chromosome 19 Open Reading Frame 80) is a Protein Coding gene. Diseases associated with C19orf80 include breast angiosarcoma and breast sarcoma. GO annotations related to this gene include hormone activity.

UniProtKB/Swiss-Prot for C19orf80 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C19orf80 Gene

Genomics for C19orf80 Gene

Genomic Location for C19orf80 Gene

Chromosome:
19
Start:
11,237,450 bp from pter
End:
11,241,943 bp from pter
Size:
4,494 bases
Orientation:
Plus strand

Genomic View for C19orf80 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C19orf80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf80 Gene

No data available for Regulatory Elements for C19orf80 Gene

Proteins for C19orf80 Gene

  • Protein details for C19orf80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXH0-BETAT_HUMAN
    Recommended name:
    Angiopoietin-like protein 8
    Protein Accession:
    Q6UXH0
    Secondary Accessions:
    • Q9NQZ1

    Protein attributes for C19orf80 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 C19orf80 Gene

Proteomics data for C19orf80 Gene at MOPED

Post-translational modifications for C19orf80 Gene

Other Protein References for C19orf80 Gene

Antibody Products

  • R&D Systems Antibodies for C19orf80 (Angiopoietin-like Protein 8/Betatrophin)

No data available for DME Specific Peptides for C19orf80 Gene

Domains & Families for C19orf80 Gene

Protein Domains for C19orf80 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6UXH0

UniProtKB/Swiss-Prot:

BETAT_HUMAN :
  • Belongs to the ANGPTL8 family.
Family:
  • Belongs to the ANGPTL8 family.
genes like me logo Genes that share domains with C19orf80: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for C19orf80 Gene

Function for C19orf80 Gene

Molecular function for C19orf80 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.

Gene Ontology (GO) - Molecular Function for C19orf80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity ISS --
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with C19orf80: view

Phenotypes for C19orf80 Gene

MGI mutant phenotypes for C19orf80:
inferred from 1 alleles
GenomeRNAi human phenotypes for C19orf80:
genes like me logo Genes that share phenotypes with C19orf80: view

Animal Models for C19orf80 Gene

MGI Knock Outs for C19orf80:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C19orf80

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for C19orf80 Gene

Localization for C19orf80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C19orf80 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C19orf80 Gene COMPARTMENTS Subcellular localization image for C19orf80 gene
Compartment Confidence
extracellular 5
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for C19orf80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 23150577
genes like me logo Genes that share ontologies with C19orf80: view

Pathways & Interactions for C19orf80 Gene

SuperPathways for C19orf80 Gene

No Data Available

Interacting Proteins for C19orf80 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000252453%0d%0a9606.ENSP00000321239%0d%0a
Selected Interacting proteins: Q6UXH0-BETAT_HUMAN ENSP00000252453 for C19orf80 Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for C19orf80 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0044342 type B pancreatic cell proliferation ISS --
GO:0045444 fat cell differentiation IEA --
genes like me logo Genes that share ontologies with C19orf80: view

No data available for Pathways by source and SIGNOR curated interactions for C19orf80 Gene

Drugs & Compounds for C19orf80 Gene

No Compound Related Data Available

Transcripts for C19orf80 Gene

mRNA/cDNA for C19orf80 Gene

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

Unigene Clusters for C19orf80 Gene

Chromosome 19 open reading frame 80:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C19orf80

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf80 Gene

No ASD Table

Relevant External Links for C19orf80 Gene

GeneLoc Exon Structure for
C19orf80
ECgene alternative splicing isoforms for
C19orf80

Expression for C19orf80 Gene

mRNA expression in normal human tissues for C19orf80 Gene

mRNA differential expression in normal tissues according to GTEx for C19orf80 Gene

This gene is overexpressed in Liver (x34.5), Adipose - Subcutaneous (x5.1), and Breast - Mammary Tissue (x4.6).

Protein differential expression in normal tissues from HIPED for C19orf80 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C19orf80 Gene



SOURCE GeneReport for Unigene cluster for C19orf80 Gene Hs.534467

mRNA Expression by UniProt/SwissProt for C19orf80 Gene

Q6UXH0-BETAT_HUMAN
Tissue specificity: Predominantly expressed in liver. Also expressed in adipose tissues.
genes like me logo Genes that share expression patterns with C19orf80: view

Protein tissue co-expression partners for C19orf80 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for C19orf80 Gene

Orthologs for C19orf80 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C19orf80 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C7H19orf80 35
  • 80.64 (n)
  • 69.19 (a)
C19orf80 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C20H19orf80 35
  • 84.01 (n)
  • 77.27 (a)
C19orf80 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm6484 35
  • 76.6 (n)
  • 72.73 (a)
Gm6484 16
Gm6484 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf80 35
  • 99.49 (n)
  • 99.49 (a)
C19orf80 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100361444 35
  • 73.74 (n)
  • 68.69 (a)
oppossum
(Monodelphis domestica)
Mammalia C19orf80 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf80 36
  • 35 (a)
OneToOne
Species with no ortholog for C19orf80:
  • 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 C19orf80 Gene

ENSEMBL:
Gene Tree for C19orf80 (if available)
TreeFam:
Gene Tree for C19orf80 (if available)

Paralogs for C19orf80 Gene

(1) SIMAP similar genes for C19orf80 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with C19orf80: view

No data available for Paralogs for C19orf80 Gene

Variants for C19orf80 Gene

Sequence variations from dbSNP and Humsavar for C19orf80 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
VAR_039046 -
VAR_039047 -

Structural Variations from Database of Genomic Variants (DGV) for C19orf80 Gene

Variant ID Type Subtype PubMed ID
nsv911060 CNV Loss 21882294
nsv525977 CNV Loss 19592680
nsv833752 CNV Loss 17160897
nsv523678 CNV Loss 19592680
nsv519802 CNV Loss 19592680

Variation tolerance for C19orf80 Gene

Gene Damage Index Score: 5.65; 72.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C19orf80 Gene

HapMap Linkage Disequilibrium report
C19orf80
Human Gene Mutation Database (HGMD)
C19orf80

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf80 Gene

Disorders for C19orf80 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C19orf80 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
breast angiosarcoma
  • hemangiosarcoma of the breast
breast sarcoma
  • sarcoma of breast
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- elite association

UniProtKB/Swiss-Prot

BETAT_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}.

Relevant External Links for C19orf80

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C19orf80
genes like me logo Genes that share disorders with C19orf80: view

No data available for Genatlas for C19orf80 Gene

Publications for C19orf80 Gene

  1. Chromosome 19 open reading frame 80 is upregulated by thyroid hormone and modulates autophagy and lipid metabolism. (PMID: 24262987) Tseng Y.H. … Lin K.H. (Autophagy 2014) 2 67
  2. Lipasin, a novel nutritionally-regulated liver-enriched factor that regulates serum triglyceride levels. (PMID: 22809513) Zhang R. (Biochem. Biophys. Res. Commun. 2012) 2 67
  3. Atypical angiopoietin-like protein that regulates ANGPTL3. (PMID: 23150577) Quagliarini F. … Hobbs H.H. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 67
  4. Circulating betatrophin levels are increased in patients with type 2 diabetes and associated with insulin resistance. (PMID: 25303484) Chen X. … Yu X. (J. Clin. Endocrinol. Metab. 2015) 67
  5. Betatrophin levels are increased in women with gestational diabetes mellitus compared to healthy pregnant controls. (PMID: 25850828) Ebert T. … Fasshauer M. (Eur. J. Endocrinol. 2015) 67

Products for C19orf80 Gene

Sources for C19orf80 Gene

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