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CCDC83 Gene

protein-coding   GIFtS: 39
GCID: GC11P085566

Coiled-Coil Domain Containing 83

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(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
Coiled-Coil Domain Containing 831 2
CT1482
Coiled-Coil Domain-Containing Protein 832

External Ids:    HGNC: 285351   Entrez Gene: 2200472   Ensembl: ENSG000001506767   UniProtKB: Q8IWF93   

Export aliases for CCDC83 gene to outside databases

Previous GC identifers: GC11P085244 GC11P081863


(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 CCDC83 Gene:
CCDC83 (coiled-coil domain containing 83) 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 at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC83 gene promoter:
         Sox5   Tal-1   AML1a   p300   AP-4   LCR-F1   E4BP4   E47   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC83

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC83


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

Entrez Gene cytogenetic band: 11q14.1-q14.2   Ensembl cytogenetic band:  11q14.1   HGNC cytogenetic band: 11q14.1-q14.2

CCDC83 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC83 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P085566:  view genomic region     (about GC identifiers)

Start:
85,566,144 bp from pter      End:
85,631,064 bp from pter
Size:
64,921 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CCD83_HUMAN, Q8IWF9 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 83  
Size: 413 amino acids; 48851 Da
Sequence caution: Sequence=BAC04154.1; Type=Frameshift; Positions=225;
Secondary accessions: B2RA49 Q6X7T2 Q6ZVT5 Q8N9Y1
Alternative splicing: 3 isoforms:  Q8IWF9-1   Q8IWF9-2   Q8IWF9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC83: NX_Q8IWF9

Explore proteomics data for CCDC83 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC83 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273088.1  NP_775827.2  

    ENSEMBL proteins: 
     ENSP00000280245   ENSP00000344512   ENSP00000434373   ENSP00000365235  

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    Cloud-Clone Corp. CLIAs for CCDC83
    Search eBioscience for ELISAs for CCDC83 


    (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:
     IPR026702 CCDC83

    Graphical View of Domain Structure for InterPro Entry Q8IWF9

    ProtoNet protein and cluster: Q8IWF9

    1 Blocks protein domain: IPB001337 Tobacco mosaic virus coat protein


    Find genes that share domains with CCDC83           About GenesLikeMe


    (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, 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC83
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    hsa-miR-576-5p hsa-miR-4276 hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidCCDC83 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC83

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC83

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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
    cytosol2
    nucleus2
    peroxisome2
    mitochondrion1
    plasma membrane1

    (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 CCDC83
    Interactions:

        Search GeneGlobe Interaction Network for CCDC83

    (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 CCDC83 (CCD83)



    (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 CCDC83 gene (2 alternative transcripts): 
    NM_001286159.1  NM_173556.4  

    Unigene Cluster for CCDC83:

    Coiled-coil domain containing 83
    Hs.567774  [show with all ESTs]
    Unigene Representative Sequence: AK124113
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000280245(uc001pbg.1 uc001pbh.1) ENST00000342404(uc001pbi.1)
    ENST00000529676 ENST00000526729 ENST00000376067(uc001pbj.1)
    miRNA
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    hsa-miR-576-5p hsa-miR-4276 hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidCCDC83 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC83
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    GenScript: all cDNA clones in your preferred vector: CCDC83 (NM_173556)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC83
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC83
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC83
      QuantiFast Probe-based Assays in human, mouse, rat CCDC83

    Additional mRNA sequence: 

    AK093405.1 AK124113.1 AK314036.1 AY251167.1 BC040280.1 

    2 DOTS entries:

    DT.101977120  DT.102868 

    19 AceView cDNA sequences:

    NM_173556 BI826653 AX748105 AK124113 AK093405 AA890138 BX094784 BU569398 
    AI867827 BX281400 AA912714 BQ435819 AY251167 BC040280 AA991734 AA724565 
    AI424852 BI827019 BI832211 

    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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    CCDC83 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC83 Expression
    About this image


    CCDC83 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    CCDC83 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC83 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567774
        Custom PCR Arrays for CCDC83
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC83

    (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 chordates.

    Orthologs for CCDC83 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc831 , 5 coiled-coil domain containing 831, 5 75.59(n)1
    64.62(a)1
      7 (50.48 cM)5
    753381  NM_183293.11  NP_899116.11 
     902238785 
    chicken
    (Gallus gallus)
    Aves CCDC831 coiled-coil domain containing 83 56.67(n)
    37.63(a)
      425232  XM_423016.4  XP_423016.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC836
    coiled-coil domain containing 83
    44(a)
    1 ↔ 1
    3(200518994-200553255)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc831 coiled-coil domain containing 83 50.76(n)
    37.56(a)
      100490826  XM_002937246.2  XP_002937292.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc831 coiled-coil domain containing 83 43.31(n)
    25.58(a)
      100004068  NM_001102572.2  NP_001096042.2 


    ENSEMBL Gene Tree for CCDC83 (if available)
    TreeFam Gene Tree for CCDC83 (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 CCDC83 (see all 1403)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs71274781,2
    C,A--85564168(+) gaggaA/Gcccct 1 -- us2k10--------
    rs1849603251,2
    --85564180(+) TGCCCA/GGCCGC 1 -- us2k10--------
    rs71275011,2
    C,F,A--85564305(+) gttgcC/Agtgtc 1 -- us2k13Minor allele frequency- A:0.09WA NA EA 358
    rs1885025841,2
    --85564309(+) CCGTGC/TCTTGA 1 -- us2k10--------
    rs1473537131,2
    --85564376(+) CTGCCA/TTGGGA 1 -- us2k10--------
    rs71278731,2
    C--85564378(+) gccttC/Gggatg 1 -- us2k10--------
    rs1809653831,2
    --85564466(+) AGGGCA/GGTGCA 1 -- us2k10--------
    rs1902475031,2
    C--85564567(+) ACTGCA/GGAAGG 1 -- us2k10--------
    rs112344441,2
    C,A--85564575(+) AGGCCA/GCAGGG 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs1422512171,2
    C--85564803(+) TAACT-/ACTG  
            
    ACTAA
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC83 (85566144 - 85631064 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CCDC83:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678670CNV Deletion23128226
    esv2744853CNV Deletion23290073
    nsv418CNV Insertion18451855
    nsv898051CNV Loss21882294
    dgv1247n71CNV Loss21882294
    nsv832222CNV Gain17160897
    essv22464CNV CNV17122850
    esv678CNV CNV17122850

    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, 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 CCDC83 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC83)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. KP-CoT-23 (CCDC83) is a novel immunogenic cancer/testis antigen in colon cancer. (PubMed id 22923163)1 Song M.H....Lee S.Y. (Int. J. Oncol. 2012)
    4. [Characteristics of a novel human testis-specific gene, HSD-9, and its encoding protein]. (PubMed id 17633455)1 Wang Y....Wang L.F. (Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2007)
    5. 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)
    6. 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)
    7. (PubMed id )2 

    (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: 220047 HGNC: 28535 AceView: MGC34732 Ensembl:ENSG00000150676 euGenes: HUgn220047
    ECgene: CCDC83 H-InvDB: CCDC83

    (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 CCDC83 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 CCDC83 gene:
    Search GeneIP for patents involving CCDC83

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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