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C21orf59 Gene

protein-coding   GIFtS: 50
GCID: GC21M033951

Chromosome 21 Open Reading Frame 59

(Previous name: chromosome 21 open reading frame 48)
(Previous symbol: C21orf48)
  See C21orf59-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 21 Open Reading Frame 591 2     FBB182
C21orf481 2 3     Prostate Cancer Upregulated Protein 12
CILD262 5     UPF0769 Protein C21orf592
Chromosome 21 Open Reading Frame 481     C21ORF595

External Ids:    HGNC: 13011   Entrez Gene: 566832   Ensembl: ENSG000001590797   OMIM: 6154945   UniProtKB: P570763   

Export aliases for C21orf59 gene to outside databases

Previous GC identifers: GC21M030551 GC21M030634 GC21M032894 GC21M032895 GC21M019383


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for C21orf59 Gene:
This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene
result in primary ciliary dyskinesia. (provided by RefSeq, Nov 2013)

GeneCards Summary for C21orf59 Gene:
C21orf59 (chromosome 21 open reading frame 59) is a protein-coding gene. Diseases associated with C21orf59 include ciliary dyskinesia, primary, 26, and ciliary dyskinesia, primary, 19. An important paralog of this gene is ENSG00000265590.

UniProtKB/Swiss-Prot: CU059_HUMAN, P57076
Function: May play a role in motile cilia function, possibly by acting on dynein arm assembly

Gene Wiki entry for C21orf59 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 at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the C21orf59 gene promoter:
         SRF   TBP   ISGF-3   AML1a   SRF (504 AA)   HTF   E4BP4   Evi-1   TFIID   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC21orf59 promoter sequence
   Search Chromatin IP Primers for C21orf59

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C21orf59


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.11

C21orf59 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C21orf59 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M033951:  view genomic region     (about GC identifiers)

Start:
33,964,389 bp from pter      End:
33,985,176 bp from pter
Size:
20,788 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CU059_HUMAN, P57076 (See protein sequence)
Recommended Name: UPF0769 protein C21orf59  
Size: 290 amino acids; 33224 Da
Secondary accessions: Q53FH0

Explore the universe of human proteins at neXtProt for C21orf59: NX_P57076

Explore proteomics data for C21orf59 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys210, Lys276
  • Modification sites at PhosphoSitePlus (C21orf59)

  • See C21orf59 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067077.1  
    ENSEMBL proteins: 
     ENSP00000411306   ENSP00000411467   ENSP00000371989   ENSP00000290155   ENSP00000407362  
     ENSP00000300260   ENSP00000393104   ENSP00000440339  

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    Cloud-Clone Corp. Proteins for C21orf59

     
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    antibodies-online proteins for C21orf59 (3 products) 

     
    antibodies-online peptides for C21orf59

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    antibodies-online antibodies for C21orf59 (27 products) 

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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:
     IPR021298 DUF2870

    Graphical View of Domain Structure for InterPro Entry P57076

    ProtoNet protein and cluster: P57076

    UniProtKB/Swiss-Prot: CU059_HUMAN, P57076
    Similarity: Belongs to the UPF0769 family


    Find genes that share domains with C21orf59           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CU059_HUMAN, P57076
    Function: May play a role in motile cilia function, possibly by acting on dynein arm assembly

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for C21orf59

    miRNA
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    miRTarBase miRNAs that target C21orf59:
    hsa-mir-10a-5p (MIRT047534)

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    Predesigned siRNA for gene silencing in human, mouse, rat C21orf59

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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
    CU059_HUMAN, P57076: Cytoplasm (By similarity). Note=Partially colocalized with SASS6 in cytoplasmic puncta,
    suggesting a centrosomal localization (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16780588
    GO:0005829cytosol IDA16780588

    Find genes that share ontologies with C21orf59           About GenesLikeMe


    (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 C21orf59
    Interactions:

        Search GeneGlobe Interaction Network for C21orf59

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for C21orf59 (P570762, 3 ENSP000002901554) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8260801 I2D: score=2 
    PPP1R21Q6ZMI03, ENSP000002949524I2D: score=5 STRING: ENSP00000294952
    UBCENSP000003448184STRING: ENSP00000344818
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    (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 C21orf59 (CU059)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for C21orf59 gene (2 alternative transcripts): 
    NM_021254.2  NM_017835.1  

    Unigene Cluster for C21orf59:

    Chromosome 21 open reading frame 59
    Hs.5811  [show with all ESTs]
    Unigene Representative Sequence: AK225697
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431599 ENST00000440966 ENST00000382549(uc002yqb.4 uc011adr.2)
    ENST00000290155(uc002ypy.2 uc002ypz.2 uc002yqc.3 uc010glx.3)
    ENST00000425336 ENST00000300260 ENST00000483315(uc002yqa.3) ENST00000458138
    ENST00000540881
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C21orf59
      QuantiFast Probe-based Assays in human, mouse, rat C21orf59

    Additional mRNA sequence: 

    AF282851.1 AK055328.1 AK094456.1 AK097566.1 AK098577.1 AK223318.1 AK225697.1 AK300970.1 
    AL355729.1 BC000709.2 DQ655906.2 DQ655907.2 DQ655908.2 DQ655909.2 DQ655910.2 DQ656039.2 
    FJ649644.1 NR_036552.1 

    20 DOTS entries:

    DT.448753  DT.100772146  DT.100029358  DT.100029357  DT.100029361  DT.100795170  DT.100680948  DT.121131074 
    DT.100795166  DT.121131048  DT.100017796  DT.100795172  DT.100795175  DT.115351  DT.40132918  DT.100682479 
    DT.100772147  DT.121131046  DT.121131050  DT.100705344 

    Selected AceView cDNA sequences (see all 282):

    AA579666 AW771167 AA046948 BI195224 CA443311 BE793400 NM_017835 BE279546 
    BM474845 BQ231226 AL550929 AI251103 AA669128 CR607241 BG387950 CK429723 
    AI619455 AI927121 CD677420 BE264217 AK000474 BM910458 CA313045 AI752839 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C21orf59 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                                            -                             -                     
    SP2:                                      -     -                             -                     
    SP3:                                            -                                                   
    SP4:                          -                 -                                                   
    SP5:                                                                          -     -               


    ECgene alternative splicing isoforms for C21orf59

    (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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    C21orf59 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTGAAAGA
    C21orf59 Expression
    About this image


    C21orf59 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Neural Tube (Nervous System)
             Diencephalic Roof Plate
    C21orf59 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C21orf59 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5811
        Custom PCR Arrays for C21orf59
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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 animals.

    Orthologs for C21orf59 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1110004E09Rik1 , 5 RIKEN cDNA 1110004E09 gene1, 5 84.37(n)1
    92.41(a)1
      16 (52.17 cM)5
    680011  NM_026502.21  NP_080778.21 
     909258095 
    chicken
    (Gallus gallus)
    Aves C1H21ORF591 chromosome 1 open reading frame, human C21orf59 74.94(n)
    77.93(a)
      418497  NM_001006258.1  NP_001006258.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    79(a)
    1 → many
    3(145197198-145208038)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44682 Xenopus laevis transcribed sequence with moderate similarity more 76.5(n)    CA790668.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb6152 sbcb615 77.97(n)   368366  BC053230.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG186751 CG18675 55.29(n)
    49.66(a)
      50169  NM_144077.3  NP_652334.2 


    ENSEMBL Gene Tree for C21orf59 (if available)
    TreeFam Gene Tree for C21orf59 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C21orf59 gene
    ENSG000002655902  

    Find genes that share paralogs with C21orf59           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for C21orf59
    PGOHUM00000238686 PGOHUM00000243457


    (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 C21orf59 (see all 373)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs770978301,2
    C,F--33973496(+) CTGGCG/AGCATC 2 -- ds50011Minor allele frequency- A:0.18EA 120
    rs1856224621,2
    --33973579(+) AATCAG/TGAAGA 2 -- ds50010--------
    rs1429286861,2
    --33973639(+) TTTCGC/TTCTGT 2 -- ds50010--------
    rs1112384931,2
    F--33973798(+) GAGACA/GGGGTT 2 -- ds50011Minor allele frequency- G:0.00CSA 1
    rs1136444791,2
    F--33973828(+) GGTCTC/TGATCT 2 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs1477106591,2
    --33973902(+) GCGCCC/TGGCCA 2 -- ds50010--------
    rs10433301,2
    C--33974108(-) aatttT/Aaaaaa 2 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.50WA 2
    rs1420901481,2
    C--33974131(+) GAGAAA/GGGTGA 2 -- ut31 nc-transcript-variant0--------
    rs1997571311,2
    --33974137(+) GGTGAA/GCTAAT 2 -- ut31 nc-transcript-variant0--------
    rs1458972631,2
    C--33974229(+) AGCAGA/TGTTAT 3 T S mis10--------

    HapMap Linkage Disequilibrium report for C21orf59 (33964389 - 33985176 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C21orf59:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4732n71CNV Gain21882294
    dgv4731n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): C21orf59
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C21orf59
    DNA2.0 Custom Variant and Variant Library Synthesis for C21orf59

    (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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    OMIM gene information: 615494   
    OMIM disorders: 615500  
    UniProtKB/Swiss-Prot: CU059_HUMAN, P57076
  • Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: A disorder characterized by abnormalities of
    motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to
    defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs
    inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs
    inversus is referred to as Kartagener syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm
    components and complete paralysis

  • 3 diseases for C21orf59:    
    About MalaCards
    ciliary dyskinesia, primary, 26    ciliary dyskinesia, primary, 19    prostate cancer


    Find genes that share disorders with C21orf59           About GenesLikeMe


    Export disorders for C21orf59 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 C21orf59 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with C21orf59)
        Utopia: connect your pdf to the dynamic
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    1. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (PubMed id 24094744)1, 2, 3 Austin-Tse C....Hildebrandt F. (Am. J. Hum. Genet. 2013)
    2. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    4. 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)
    5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (Nat. Biotechnol. 2013)
    6. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    7. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56683 HGNC: 1301 AceView: C21orf59 Ensembl:ENSG00000159079 euGenes: HUgn56683
    ECgene: C21orf59 H-InvDB: C21orf59

    (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 C21orf59 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for C21orf59 gene:
    Search GeneIP for patents involving C21orf59

    GeneCards and IP:
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