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CCDC11 Gene

protein-coding   GIFtS: 50
GCID: GC18M047753

Coiled-Coil Domain Containing 11

  See 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
Coiled-Coil Domain Containing 111 2
HTX62 5
Coiled-Coil Domain-Containing Protein 112

External Ids:    HGNC: 265301   Entrez Gene: 2201362   Ensembl: ENSG000001723617   OMIM: 6147595   UniProtKB: Q96M913   

Export aliases for CCDC11 gene to outside databases

Previous GC identifers: GC18M046008 GC18M044607


(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 CCDC11 Gene:
CCDC11 (coiled-coil domain containing 11) is a protein-coding gene. Diseases associated with CCDC11 include right aortic arch, and heterotaxy, visceral, 6, autosomal recessive.


(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_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC11 gene promoter:
         p53   IRF-7A   Nkx2-5   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC11 promoter sequence
   Search Chromatin IP Primers for CCDC11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC11


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21.1

CCDC11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC11 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M047753:  view genomic region     (about GC identifiers)

Start:
47,753,563 bp from pter      End:
47,792,892 bp from pter
Size:
39,330 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CCD11_HUMAN, Q96M91 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 11  
Size: 514 amino acids; 61835 Da
Sequence caution: Sequence=BAB71418.1; Type=Erroneous initiation;
Secondary accessions: B4DXT1

Explore the universe of human proteins at neXtProt for CCDC11: NX_Q96M91

Explore proteomics data for CCDC11 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_659457.2  
    ENSEMBL proteins: 
     ENSP00000381553  

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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:
     IPR026773 TCHP/CCDC11

    Graphical View of Domain Structure for InterPro Entry Q96M91

    ProtoNet protein and cluster: Q96M91


    CCDC11 for domains           About GeneDecksing


    (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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    CCDC11 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC11
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    hsa-mir-124-3p (MIRT022937)

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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

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    CCDC11 for ontologies           About GeneDecksing


    (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 CCDC11
    Interactions:

        Search GeneGlobe Interaction Network for CCDC11

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CCDC11 (Q96M912, 3 ENSP000003815534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-66265 I2D: score=4 STRING: ENSP00000311695
    TEX11Q8IYF32, 3, ENSP000003409954MINT-66836 I2D: score=4 STRING: ENSP00000340995
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    CCDC11 for ontologies           About GeneDecksing



    (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 CCDC11 (CCD11)



    (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 CCDC11 gene: 
    NM_145020.3  

    Unigene Cluster for CCDC11:

    Coiled-coil domain containing 11
    Hs.658630  [show with all ESTs]
    Unigene Representative Sequence: AK302114
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000398545(uc002lee.2)
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC11 (NM_014157)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC11
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC11
      QuantiFast Probe-based Assays in human, mouse, rat CCDC11

    Additional mRNA sequence: 

    AK057305.1 AK302114.1 BC030606.2 

    3 DOTS entries:

    DT.91938798  DT.435989  DT.65284095 

    6 AceView cDNA sequences:

    BU677534 AW771718 AW242086 BM979490 CA433784 BU680428 

    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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    CCDC11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCAGTAAG
    CCDC11 Expression
    About this image


    CCDC11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CCDC11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658630

    UniProtKB/Swiss-Prot: CCD11_HUMAN, Q96M91
    Tissue specificity: Expressed in skin fibroblasts (at protein level)

        Custom PCR Arrays for CCDC11
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC11
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC11

    (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 CCDC11 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc111 , 5 coiled-coil domain containing 111, 5 78.1(n)1
    70.18(a)1
      18 (50.70 cM)5
    744531  NM_028948.21  NP_083224.21 
     742830905 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC116
    coiled-coil domain containing 11
    34(a)
    1 ↔ 1
    GL343471.1(197150-219417)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc111 coiled-coil domain containing 11 52.37(n)
    40.51(a)
      100145337  NM_001126809.1  NP_001120281.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018837381 coiled-coil domain-containing protein 11-like 49.01(n)
    35.55(a)
      101883738  XM_005161247.1  XP_005161304.1 


    ENSEMBL Gene Tree for CCDC11 (if available)
    TreeFam Gene Tree for CCDC11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC11 gene

    CCDC11 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CCDC11
    PGOHUM00000247143 PGOHUM00000235196


    (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 CCDC11 (see all 901)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs558760851,2
    C--44625904(+) AAAAA-/A/AA  
            
    CTATT
    1 -- int11NA 2
    rs613840971,2
    C--44630040(+) AAAAA-/A/AA  
            
    GAATA
    1 -- int11NA 2
    rs1478561231,2
    C--47753080(+) CTTAG-/ATATAAT 1 -- int10--------
    rs796561801,2
    F--47753152(+) AGAGGC/TCTTTT 1 -- int12Minor allele frequency- T:0.07CSA WA 120
    rs116639521,2
    C,F,H--47753295(+) tcttaG/Agatct 1 -- int15Minor allele frequency- A:0.00NS EA NA 426
    rs788204611,2
    C,F--47753340(+) CATTTC/GTTTAA 1 -- int13Minor allele frequency- G:0.08CSA EA 123
    rs1391240771,2
    --47753376(+) TGGCT-/GGTTAA 1 -- int10--------
    rs1876415571,2
    --47753454(+) AGGAAG/TAAGAA 1 -- int10--------
    rs1165407431,2
    C,F--47753462(+) GAAACG/AGGCAT 1 -- int11Minor allele frequency- A:0.02WA 118
    rs8947701,2
    C,F,O,A,H--47753469(+) GCATAT/CGGGTA 1 -- int131Minor allele frequency- C:0.15MN NS EA NA WA CSA 2879

    HapMap Linkage Disequilibrium report for CCDC11 (47753563 - 47792892 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CCDC11: --
    Human Gene Mutation Database (HGMD): CCDC11
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC11
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC11

    (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: 614759   
    OMIM disorders: 614779  
    UniProtKB/Swiss-Prot: CCD11_HUMAN, Q96M91
  • Heterotaxy, visceral, 6, autosomal (HTX6) [MIM:614779]: A form of visceral heterotaxy, a complex disorder
    due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs
    ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen,
    and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one
    another. It can been associated with variety of congenital defects including cardiac malformations. HTX6 clinical
    features are situs inversus totalis and severe complex cardiac malformations including unbalanced
    atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic
    arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 10 diseases for CCDC11:    
    About MalaCards
    right aortic arch    heterotaxy, visceral, 6, autosomal recessive    dextrocardia with situs inversus    heterotaxy
    visceral heterotaxy    transposition of the great arteries    situs inversus    multiple myeloma
    malaria    myeloma

    1 disease from the University of Copenhagen DISEASES database for CCDC11:
    Situs inversus

    CCDC11 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC11
    Human Genome Epidemiology (HuGE) Navigator: CCDC11 (1 document)

    Export disorders for CCDC11 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 CCDC11 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human laterality disorder associated with recessive CCDC11 mutation. (PubMed id 22577226)1, 2 Perles Z....Elpeleg O. (J. Med. Genet. 2012)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. 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)
    7. 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)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)

    (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: 220136 HGNC: 26530 AceView: FLJ32743.1 Ensembl:ENSG00000172361 euGenes: HUgn220136
    ECgene: CCDC11 H-InvDB: CCDC11

    (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 CCDC11 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 CCDC11 gene:
    Search GeneIP for patents involving CCDC11

    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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