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C19orf80 Gene

protein-coding   GIFtS: 37
GCID: GC19P011349

Chromosome 19 Open Reading Frame 80

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 19 Open Reading Frame 801 2     TD262
betatrophin1 2     Betatrophin Variant 12
lipasin1 2     Betatrophin Variant 22
Angiopoietin-Like Protein 82 3     Hepatocellular Carcinoma-Associated Gene TD262
ANGPTL82     Hepatocellular Carcinoma-Associated Protein TD262
PRO11852     Angptl83
PVPA5992     Lipasin3
RIFL2     

External Ids:    HGNC: 249331   Entrez Gene: 559082   Ensembl: ENSG000001301737   UniProtKB: Q6UXH03   

Export aliases for C19orf80 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C19orf80 Gene:
C19orf80 (chromosome 19 open reading frame 80) is a protein-coding gene. Diseases associated with C19orf80 include hepatocellular carcinoma, and insulin resistance. GO annotations related to this gene include hormone activity.

UniProtKB/Swiss-Prot: BETAT_HUMAN, Q6UXH0
Function: Hormone that specifically promotes pancreatic beta cell proliferation and beta cell mass expansion,
thereby improving glucose tolerance. Promotes pancreatic beta cell proliferation without insulin resistance. Also
acts as a blood lipid regulator by regulating serum triglyceride levels; possibly by promoting ANGPTL3 cleavage




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Search for regulatory transcription factor binding sites for C19orf80
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C19orf80


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

C19orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf80 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P011349:  view genomic region     (about GC identifiers)

Start:
11,348,178 bp from pter      End:
11,352,619 bp from pter
Size:
4,442 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BETAT_HUMAN, Q6UXH0 (See protein sequence)
Recommended Name: Betatrophin precursor  
Size: 198 amino acids; 22105 Da
Subunit: Interacts with ANGPTL3
Developmental stage: Transcripts are up-regulated by 100 fold during adipogenesis
Miscellaneous: The ability to induce pancreatic beta cell proliferation is promising in diabetes therapy.
Betatrophin treatment could supply or replace insulin injections by increasing the number of insulin-producing
cells in diabetes (PubMed:23623304)
Sequence caution: Sequence=AAF76204.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=EAW84186.1; Type=Erroneous gene model prediction;
Secondary accessions: Q9NQZ1

Explore the universe of human proteins at neXtProt for C19orf80: NX_Q6UXH0

Explore proteomics data for C19orf80 at MOPED


See C19orf80 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_061157.3  
ENSEMBL proteins: 
 ENSP00000464941   ENSP00000252453   ENSP00000465378  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR026614 TD26

Graphical View of Domain Structure for InterPro Entry Q6UXH0

ProtoNet protein and cluster: Q6UXH0


C19orf80 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: BETAT_HUMAN, Q6UXH0
Function: Hormone that specifically promotes pancreatic beta cell proliferation and beta cell mass expansion,
thereby improving glucose tolerance. Promotes pancreatic beta cell proliferation without insulin resistance. Also
acts as a blood lipid regulator by regulating serum triglyceride levels; possibly by promoting ANGPTL3 cleavage
Induction: In response to food intake. Stimulated by insulin

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005179hormone activity ISS--
GO:0005515protein binding IPI--
     
C19orf80 for ontologies           About GeneDecksing


Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gm6484):
 homeostasis/metabolism 

C19orf80 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Gm6484tm1Lex for C19orf80

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
BETAT_HUMAN, Q6UXH0: Secreted

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IDA--

C19orf80 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C19orf80
Interactions:

    Search GeneGlobe Interaction Network for C19orf80

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for C19orf80 (Q6UXH01 ENSP000002524534) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
RCHY1Q96PM51, ENSP000003212394EBI-3943039,EBI-947779 STRING: ENSP00000321239
About this table

Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006006glucose metabolic process IEA--
GO:0010954positive regulation of protein processing IDA--
GO:0019216regulation of lipid metabolic process IEA--
GO:0044255cellular lipid metabolic process ISS--
GO:0044342type B pancreatic cell proliferation ISS--

C19orf80 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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  Browse compounds at ApexBio 

Browse Tocris compounds for C19orf80 (BETAT)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C19orf80 gene: 
NM_018687.6  

Unigene Cluster for C19orf80:

Chromosome 19 open reading frame 80
Hs.534467  [show with all ESTs]
Unigene Representative Sequence: AF271350
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000591200 ENST00000252453(uc010dxw.3 uc021upg.1) ENST00000587543

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Additional mRNA sequence: 

AF271350.2 AY358356.1 BC113823.1 

5 DOTS entries:

DT.91652802  DT.454372  DT.40281916  DT.97766754  DT.97773588 

15 AceView cDNA sequences:

AV718605 AY358356 NM_018687 AV656119 AV654765 BQ002776 AV656411 AV655891 
AV719284 AA923549 AV697855 AF271350 BI832620 AI950351 BF511595 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C19orf80 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCTACACACC
C19orf80 Expression
About this image

C19orf80 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C19orf80 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.534467

UniProtKB/Swiss-Prot: BETAT_HUMAN, Q6UXH0
Tissue specificity: Predominantly expressed in liver. Also expressed in adipose tissues

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for C19orf80 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm64841 , 5 predicted gene 64841, 5 76.6(n)1
72.73(a)1
  9 (7.90 cM)5
6242191  NM_001080940.11  NP_001074409.11 
 218355105 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C19orf80 gene
1 SIMAP similar gene for C19orf80 using alignment to 3 protein entries:     BETAT_HUMAN (see all proteins):
LOC55908

C19orf80 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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2 SNPs for C19orf80    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs340566041,2,4
----see VAR_0390472 mis40--------
rs22784261,2,4
----see VAR_0390462 mis40--------

HapMap Linkage Disequilibrium report for C19orf80 (11348178 - 11352619 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for C19orf80:    About this table    
Variant IDTypeSubtypePubMed ID
nsv911060CNV Loss21882294
nsv833752CNV Loss17160897
nsv523678CNV Loss19592680
nsv525977CNV Loss19592680
nsv519802CNV Loss19592680

Human Gene Mutation Database (HGMD): C19orf80
Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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3 diseases for C19orf80:    
About MalaCards
hepatocellular carcinoma    insulin resistance    pancreatitis


C19orf80 for disorders           About GeneDecksing


Export disorders for C19orf80 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for C19orf80 gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with C19orf80)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Atypical angiopoietin-like protein that regulates ANGPTL3. (PubMed id 23150577)1, 2, 3 Quagliarini F.... Hobbs H.H. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  2. Lipasin, a novel nutritionally-regulated liver-enriched factor that regulates serum triglyceride levels. (PubMed id 22809513)1, 2, 3 Zhang R. (Biochem. Biophys. Res. Commun. 2012)
  3. Chromosome 19 open reading frame 80 is upregulated by thyroid hormone and modulates autophagy and lipid metabolism. (PubMed id 24262987)1, 3 Tseng Y.H....Lin K.H. (Autophagy 2014)
  4. Identification of RIFL, a novel adipocyte-enriched insulin target gene with a role in lipid metabolism. (PubMed id 22569073)1, 2 Ren G....Smas C.M. (Am. J. Physiol. Endocrinol. Metab. 2012)
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
  6. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. (PubMed id 23505323)1 Weissglas-Volkov D....Pajukanta P. (J. Med. Genet. 2013)
  7. Betatrophin: a hormone that controls pancreatic beta cell proliferation. (PubMed id 23623304)2 Yi P.... Melton D.A. (Cell 2013)
  8. Lipasin, thermoregulated in brown fat, is a novel but atypical member of the angiopoietin-like protein family. (PubMed id 23261442)1 Fu Z....Zhang R. (Biochem. Biophys. Res. Commun. 2013)
  9. Emerging roles of Lipasin as a critical lipid regulator. (PubMed id 23415864)1 Zhang R. and Abou-Samra A.B. (Biochem. Biophys. Res. Commun. 2013)
  10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55908 HGNC: 24933 AceView: LOC55908 Ensembl:ENSG00000130173 euGenes: HUgn55908
ECgene: C19orf80 H-InvDB: C19orf80

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C19orf80 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C19orf80 gene:
Search GeneIP for patents involving C19orf80

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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