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C17orf82 Gene

protein-coding   GIFtS: 37
GCID: GC17P059489          (predicted)

Chromosome 17 Open Reading Frame 82

  See related disease
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 17 Open Reading Frame 821 2
Putative Uncharacterized Protein C17orf822

External Ids:    HGNC: 326991   Entrez Gene: 3884072   Ensembl: ENSG000001870137   UniProtKB: Q86X593   

Export aliases for C17orf82 gene to outside databases

Previous GC identifer: GC17P056844


(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 C17orf82 Gene:
C17orf82 (chromosome 17 open reading frame 82) is a protein-coding gene. Diseases associated with C17orf82 include kidney disease.


(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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the C17orf82 gene promoter:
         AhR   Tal-1   p53   STAT5A   E47   AREB6   CREB   Cart-1   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf82


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

Entrez Gene cytogenetic band: 17q23.2   Ensembl cytogenetic band:  17q23.2   HGNC cytogenetic band: 17q23.2

C17orf82 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf82 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P059489:  view genomic region     (about GC identifiers)

Start:
59,489,112 bp from pter      End:
59,490,641 bp from pter
Size:
1,530 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CQ082_HUMAN, Q86X59 (See protein sequence)
Recommended Name: Putative uncharacterized protein C17orf82  
Size: 251 amino acids; 25393 Da

Explore the universe of human proteins at neXtProt for C17orf82: NX_Q86X59

Explore proteomics data for C17orf82 at MOPED


See C17orf82 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_982249.1  
ENSEMBL proteins: 
 ENSP00000335229  

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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: Q86X59


(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:
     1 GenomeRNAi human phenotype for C17orf82:
 Decreased viability with pacli 

Animal Models:
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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
nucleus3
cytosol2
extracellular1
peroxisome1

(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 C17orf82
Interactions:

    Search GeneGlobe Interaction Network for C17orf82

(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 C17orf82 (CQ082)



(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,
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 C17orf82 gene: 
NM_203425.1  

Unigene Cluster for C17orf82:

Chromosome 17 open reading frame 82
Hs.434459  [show with all ESTs]
Unigene Representative Sequence: BC046200
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000335108(uc002izh.1)
miRNA
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SwitchGear 3'UTR luciferase reporter plasmidC17orf82 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: BC046200.1 

1 DOTS entry:

DT.95070116 

4 AceView cDNA sequences:

NM_203425 BC046200 BI818440 BQ431841 

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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

C17orf82 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C17orf82 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.434459
    Custom PCR Arrays for C17orf82
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In Situ
Assay Products:
 

 
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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 chimp.

Orthologs for C17orf82 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf821 chromosome 17 open reading frame, human C17orf82 98.78(n)
97.13(a)
  454799  XM_003954507.1  XP_003954556.1 


ENSEMBL Gene Tree for C17orf82 (if available)
TreeFam Gene Tree for C17orf82 (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 C17orf82 (see all 78)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1405442701,2
--60503621(+) GGGGTC/TTGGCT 1 -- us2k10--------
rs1892919211,2
--60503678(+) TCTTTC/TCCCTC 1 -- us2k10--------
rs744264271,2
C,F--60503770(+) GTCTTA/GCTTTA 1 -- us2k11Minor allele frequency- G:0.06WA 118
rs733327641,2
C,F--60503914(+) ATTAGG/ACTGGT 1 -- us2k11Minor allele frequency- A:0.50WA 2
rs1821363051,2
--60504273(+) TCCCAA/GGACGC 1 -- us2k10--------
rs1872620071,2
--60504303(+) TGCAAA/GGAGCG 1 -- us2k10--------
rs1917270801,2
--60504407(+) CGAGTA/GGGAGG 1 -- us2k10--------
rs1162603151,2
C,F--60504444(+) GAGGGT/CGGGTT 1 -- us2k11Minor allele frequency- C:0.04WA 118
rs80663481,2
C,F--60504755(+) TGGGCG/CCGGGG 1 -- us2k1 tfbs32Minor allele frequency- C:0.17WA EA 238
rs7305621,2
C,F--60504850(-) CCCACC/ACCACC 1 -- us2k1 tfbs37Minor allele frequency- A:0.10EA NA MN CSA WA 353

HapMap Linkage Disequilibrium report for C17orf82 (59489112 - 59490641 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for C17orf82:    About this table    
Variant IDTypeSubtypePubMed ID
dgv3241n71CNV Loss21882294
nsv908663CNV Loss21882294
dgv3242n71CNV Loss21882294
dgv43n68CNV Loss17160897
nsv518130CNV Gain19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for C17orf82:    
About MalaCards
kidney disease


C17orf82 for disorders           About GeneDecksing

Genetic Association Database (GAD): C17orf82

Export disorders for C17orf82 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 C17orf82 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with C17orf82)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of 15 loci influencing height in a Korean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (J. Hum. Genet. 2010)
  2. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
  4. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PubMed id 23263486)1 KAPttgen A....Gieger C. (Nat. Genet. 2013)
  5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  6. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
  7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
  8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  10. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)

(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: 388407 HGNC: 32699 AceView: LOC388407 Ensembl:ENSG00000187013 euGenes: HUgn388407
ECgene: C17orf82 H-InvDB: C17orf82

(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 C17orf82 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 C17orf82 gene:
Search GeneIP for patents involving C17orf82

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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