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CCDC63 Gene

protein-coding   GIFtS: 43
GCID: GC12P111284

Coiled-Coil Domain Containing 63

  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
Coiled-Coil Domain Containing 631 2
Outer Row Dynein Assembly 5 Homolog (Chlamydomonas)1
ODA52
Coiled-Coil Domain-Containing Protein 632
Outer Row Dynein Assembly 5 Homolog2

External Ids:    HGNC: 266691   Entrez Gene: 1607622   Ensembl: ENSG000001730937   UniProtKB: Q8NA473   

Export aliases for CCDC63 gene to outside databases

Previous GC identifers: GC12P109748 GC12P108301


(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 CCDC63 Gene:
CCDC63 (coiled-coil domain containing 63) is a protein-coding gene. Diseases associated with CCDC63 include malaria. An important paralog of this gene is CCDC114.


(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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC63 gene promoter:
         STAT5B   STAT1   AML1a   STAT4   STAT6   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC63 promoter sequence
   Search Chromatin IP Primers for CCDC63

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC63


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

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.11

CCDC63 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC63 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P111284:  view genomic region     (about GC identifiers)

Start:
111,284,573 bp from pter      End:
111,345,339 bp from pter
Size:
60,767 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: CCD63_HUMAN, Q8NA47 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 63  
Size: 563 amino acids; 66250 Da
Sequence caution: Sequence=AAH44815.1; Type=Frameshift; Positions=241;
Secondary accessions: Q0P603 Q6P2E1

Explore the universe of human proteins at neXtProt for CCDC63: NX_Q8NA47

Explore proteomics data for CCDC63 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC63 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001273172.1  NP_001273173.1  NP_689804.1  

    ENSEMBL proteins: 
     ENSP00000445881   ENSP00000312399   ENSP00000450217  

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    Cloud-Clone Corp. CLIAs for CCDC63


    (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: Q8NA47


    (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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC63
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC63

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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
    golgi apparatus1
    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 CCDC63
    Interactions:

        Search GeneGlobe Interaction Network for CCDC63

    1 Interacting protein for CCDC63 (Q8NA473) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMC3Q9UQE73I2D: score=3 
    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 CCDC63 (CCD63)



    (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 CCDC63 gene (3 alternative transcripts): 
    NM_001286243.1  NM_001286244.1  NM_152591.2  

    Unigene Cluster for CCDC63:

    Coiled-coil domain containing 63
    Hs.437141  [show with all ESTs]
    Unigene Representative Sequence: AK093162
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550317 ENST00000545036(uc009zvt.1 uc010sye.1 uc001trw.1)
    ENST00000308208(uc001trv.1) ENST00000552694
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC63
      QuantiFast Probe-based Assays in human, mouse, rat CCDC63

    Additional mRNA sequence: 

    AK093162.1 AK302207.1 AK310294.1 BC044815.1 BC064580.1 BC073147.1 

    2 DOTS entries:

    DT.70103707  DT.97776334 

    17 AceView cDNA sequences:

    BM554401 BC073147 BM553140 BC044815 BC064580 AI123295 BM563131 BG184786 
    AI376799 AX747965 BM563132 NM_152591 BX114259 AK093162 BI831342 AW004065 
    AI969078 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC63    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                        
    SP2:        -     -                                                         
    SP3:                                                                        
    SP4:                                                                        


    ECgene alternative splicing isoforms for CCDC63

    (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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    CCDC63 expression in normal human tissues (normalized intensities)      CCDC63 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCCACCTT
    CCDC63 Expression
    About this image


    CCDC63 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
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Testis (Reproductive System)
    CCDC63 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC63 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437141
        Custom PCR Arrays for CCDC63
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC63
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC63
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC63
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC63

    (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 CCDC63 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc631 , 5 coiled-coil domain containing 631, 5 76.33(n)1
    72.45(a)1
      5 (62.17 cM)5
    3301881  NM_183307.31  NP_899130.11 
     1221080405 
    chicken
    (Gallus gallus)
    Aves CCDC631 coiled-coil domain containing 63 59.96(n)
    45.79(a)
      416873  XM_415165.4  XP_415165.2 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC636
    coiled-coil domain containing 63
    45(a)
    1 ↔ 1
    GL343621.1(30863-49843)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG149056
    CG170836
    --
    23(a)
    16(a)
    many ↔ many
    many ↔ many
    3R(12448457-12450439)
    3R(19111815-19113773)


    ENSEMBL Gene Tree for CCDC63 (if available)
    TreeFam Gene Tree for CCDC63 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC63 gene
    CCDC1142  

    CCDC63 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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    Selected SNPs for CCDC63 (see all 1326)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904808901,2
    --111080687(+) CTCATC/TGCTTT 1 -- us2k10--------
    rs1143820391,2
    C,F--111080688(+) TCATCG/ACTTTG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1830234581,2
    --111080810(+) GCGGCG/TGCTGA 1 -- us2k10--------
    rs1151127521,2
    C,F--111081018(+) CTCAGA/CTTTGG 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs1393980441,2
    --111081059(+) CGTGGC/GGCTCC 1 -- us2k10--------
    rs1167257791,2
    C,F--111081064(+) GGCTCC/TAGAGA 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1500444561,2
    --111081138(+) TGTTTC/TCCCAT 1 -- us2k10--------
    rs1443326381,2
    --111081252(+) ACATGA/GATATT 1 -- us2k10--------
    rs1486503871,2
    --111081315(+) ACCCTC/GTATGT 1 -- us2k10--------
    rs1180676871,2
    C,F--111081318(+) CTGTAT/CGTAAT 1 -- us2k11Minor allele frequency- C:0.02EA 120

    HapMap Linkage Disequilibrium report for CCDC63 (111284573 - 111345339 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CCDC63:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1606344CNV Deletion17803354
    esv2171541CNV Deletion18987734
    esv1606463CNV Insertion17803354
    nsv513365CNV Insertion21212237
    nsv509476CNV Insertion20534489
    nsv7236OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC63

    (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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    1 disease for CCDC63:    About MalaCards
    malaria


    CCDC63 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC63
    Human Genome Epidemiology (HuGE) Navigator: CCDC63 (1 document)

    Export disorders for CCDC63 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 CCDC63 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC63)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population. (PubMed id 21372407)1, 4 Takeuchi F....Kato N. (Circ. J. 2011)
    2. Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. (PubMed id 21270382)1, 4 Baik I....Shin C. (Am. J. Clin. Nutr. 2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Common variants at 12q24 are associated with drinking behavior in Han Chinese. (PubMed id 23364009)1 Yang X....Gu D. (Am. J. Clin. Nutr. 2013)
    5. 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)
    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. 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)

    (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: 160762 HGNC: 26669 AceView: FLJ35843 Ensembl:ENSG00000173093 euGenes: HUgn160762
    ECgene: CCDC63 H-InvDB: CCDC63

    (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 CCDC63 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 CCDC63 gene:
    Search GeneIP for patents involving CCDC63

    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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