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C20orf173 Gene

protein-coding   GIFtS: 37
GCID: GC20M034109

Chromosome 20 Open Reading Frame 173

  Search for C20orf173
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 20 Open Reading Frame 1731 2
dJ477O4.42
Uncharacterized Protein C20orf1732

External Ids:    HGNC: 161661   Entrez Gene: 1408732   Ensembl: ENSG000001259757   UniProtKB: Q96LM93   

Export aliases for C20orf173 gene to outside databases

Previous GC identifers: GC20M033873 GC20M033833 GC20M034783 GC20M034830 GC20M033578 GC20M030886


(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 C20orf173 Gene:
C20orf173 (chromosome 20 open reading frame 173) is a protein-coding gene.


(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_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C20orf173 gene promoter:
         AML1a   HNF-1   Pax-6   XBP-1   CUTL1   LCR-F1   HNF-1A   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C20orf173

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C20orf173


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

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22

C20orf173 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C20orf173 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M034109:  view genomic region     (about GC identifiers)

Start:
34,108,569 bp from pter      End:
34,117,481 bp from pter
Size:
8,913 bases      Orientation:
minus 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: CT173_HUMAN, Q96LM9 (See protein sequence)
Recommended Name: Uncharacterized protein C20orf173  
Size: 149 amino acids; 16552 Da
Secondary accessions: A6PVJ1 Q2M293 Q5JWS4 Q9H449
Alternative splicing: 2 isoforms:  Q96LM9-1   Q96LM9-2   

Explore the universe of human proteins at neXtProt for C20orf173: NX_Q96LM9

Explore proteomics data for C20orf173 at MOPED


See C20orf173 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001138822.1  
ENSEMBL proteins: 
 ENSP00000363465   ENSP00000246199   ENSP00000388785   ENSP00000403566  

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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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ProtoNet protein and cluster: Q96LM9


(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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Phenotypes:
     2 GenomeRNAi human phenotypes for C20orf173:
 Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a 

Animal Models:
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miRNA
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miRTarBase miRNAs that target C20orf173:
hsa-mir-181d-5p (MIRT041162), hsa-mir-335-5p (MIRT018570), hsa-mir-181b-5p (MIRT047225)

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hsa-miR-640 hsa-miR-3920
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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 COMPARTMENTS: 

CompartmentConfidence
extracellular3
plasma membrane2

(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 C20orf173
Interactions:

    Search GeneGlobe Interaction Network for C20orf173

(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
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C20orf173 (CT173)



(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 C20orf173 gene (2 alternative transcripts): 
NM_001145350.1  NM_080828.1  

Unigene Cluster for C20orf173:

Chromosome 20 open reading frame 173
Hs.158680  [show with all ESTs]
Unigene Representative Sequence: NR_026933
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000374345 ENST00000246199(uc002xcp.2) ENST00000424444 ENST00000444723(uc010zvf.1)

miRNA
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hsa-miR-640 hsa-miR-3920
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  QuantiFast Probe-based Assays in human, mouse, rat C20orf173

Additional mRNA sequence: 

AK310337.1 NR_026933.1 

4 DOTS entries:

DT.120824386  DT.302626  DT.75148581  DT.75106494 

6 AceView cDNA sequences:

AK058089 NM_080828 BX115218 AI371744 BF592797 BP369331 

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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C20orf173 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AACTCAGGGA
C20orf173 Expression
About this image

C20orf173 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C20orf173 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.158680
    Custom PCR Arrays for C20orf173
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C20orf173

(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 C20orf173 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 6430550D23Rik1 , 5 RIKEN cDNA 6430550D23 gene1, 5 67.49(n)1
52.17(a)1
  2 (77.26 cM)5
3200951  NM_001145351.11  NP_001138823.11 
 1559732795 


ENSEMBL Gene Tree for C20orf173 (if available)
TreeFam Gene Tree for C20orf173 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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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Selected SNPs for C20orf173 (see all 248)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs732838041,2
C,F--34108073(+) TACCAG/ACACTA 1 -- ds50016Minor allele frequency- A:0.19WA CSA NA EA 364
rs1395895201,2
C--34108102(+) AAAAA-/ATTTTT 1 -- ds50010--------
rs1122086861,2
C--34108112(+) AAAAAA/TTTTTT 1 -- ds50010--------
rs1851115451,2
C--34108255(+) CACACC/TGCCAT 1 -- ds50010--------
rs2243931,2
C,F,A--34108260(+) cgccaT/Cgccta 1 -- ds50014Minor allele frequency- C:0.25NA WA 8
rs1903870781,2
C--34108314(+) GGTCAG/TGCTGG 1 -- ds50010--------
rs1823742911,2
--34108341(+) TCATAA/TTCTGC 1 -- ds50010--------
rs1382976601,2
--34108349(+) TGCCCA/GCCTTG 1 -- ds50010--------
rs1418640951,2
--34108394(+) ATCGCA/GCCTGG 1 -- ds50010--------
rs799076581,2
C--34108545(+) GATGTA/GTTTTC 1 -- ds50010--------

HapMap Linkage Disequilibrium report for C20orf173 (34108569 - 34117481 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C20orf173:    About this table    
Variant IDTypeSubtypePubMed ID
nsv3364CNV Insertion18451855

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C20orf173
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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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(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 C20orf173 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C20orf173)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  6. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

(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: 140873 HGNC: 16166 AceView: C20orf173 Ensembl:ENSG00000125975 euGenes: HUgn140873
ECgene: C20orf173 H-InvDB: C20orf173

(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 C20orf173 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 C20orf173 gene:
Search GeneIP for patents involving C20orf173

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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