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CCDC23 Gene

protein-coding   GIFtS: 40
GCID: GC01M043272

Coiled-Coil Domain Containing 23

  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 231 2
Coiled-Coil Domain-Containing Protein 232

External Ids:    HGNC: 292041   Entrez Gene: 3749692   Ensembl: ENSG000001778687   UniProtKB: Q8N3003   

Export aliases for CCDC23 gene to outside databases

Previous GC identifers: GC01M042942 GC01M043045 GC01M041392


(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 CCDC23 Gene:
CCDC23 (coiled-coil domain containing 23) is a protein-coding gene. Diseases associated with CCDC23 include endotheliitis, and hepatocellular carcinoma.


(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_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC23 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC23 promoter sequence
   Search Chromatin IP Primers for CCDC23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC23


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

CCDC23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC23 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M043272:  view genomic region     (about GC identifiers)

Start:
43,272,723 bp from pter      End:
43,283,059 bp from pter
Size:
10,337 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: CCD23_HUMAN, Q8N300 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 23  
Size: 66 amino acids; 7808 Da
Secondary accessions: A8K5P1 D3DPW7

Explore the universe of human proteins at neXtProt for CCDC23: NX_Q8N300

Explore proteomics data for CCDC23 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_955374.1  
    ENSEMBL proteins: 
     ENSP00000361600   ENSP00000361599   ENSP00000442851  

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    Cloud-Clone Corp. CLIAs for CCDC23


    (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: Q8N300

    UniProtKB/Swiss-Prot: CCD23_HUMAN, Q8N300
    Similarity: Belongs to the CCDC23 family


    (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 CCDC23
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC23 3' UTR sequence
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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
    nucleus2
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045177apical part of cell IDA--

    CCDC23 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 CCDC23
    Interactions:

        Search GeneGlobe Interaction Network for CCDC23

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CCDC23 (Q8N3003 ENSP000003615994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VASH1Q7L8A93, ENSP000001671064I2D: score=1 STRING: ENSP00000167106
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009306protein secretion IDA--
    GO:0010596negative regulation of endothelial cell migration IGI--
    GO:0031397negative regulation of protein ubiquitination IDA--

    CCDC23 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 CCDC23 (CCD23)



    (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 CCDC23 gene: 
    NM_199342.3  

    Unigene Cluster for CCDC23:

    Coiled-coil domain containing 23
    Hs.113919  [show with all ESTs]
    Unigene Representative Sequence: CD243680
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372522 ENST00000372521(uc001cib.2) ENST00000497437 ENST00000537227

    miRNA
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    hsa-miR-148b* hsa-miR-29a* hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC23 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK291356.1 BC029427.1 

    5 DOTS entries:

    DT.447674  DT.97840845  DT.95367077  DT.95371775  DT.97840846 

    Selected AceView cDNA sequences (see all 114):

    AA948514 AI581511 CB266380 AW207265 AI264114 BG195652 BG200240 AI299167 
    W23590 BU153134 BG186325 AA011212 AI128626 AA251809 AI204071 AI700988 
    BM931566 AI038753 BM931514 AI187077 BG198675 BG205453 AI084430 W32309 

    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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    CCDC23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTCTATA
    CCDC23 Expression
    About this image

    CCDC23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC23 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113919
        Custom PCR Arrays for CCDC23
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC23

    (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 CCDC23 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc231 , 5 coiled-coil domain containing 231, 5 89.39(n)1
    93.94(a)1
      4 (55.34 cM)5
    692161  NM_001038998.21  NP_001034087.11 
     1191953065 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC236
    coiled-coil domain containing 23
    70(a)
    1 ↔ 1
    GL343980.1(25319-28627)
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC236
    Coiled-coil domain-containing protein 23 (ccdc23),...
    68(a)
    1 ↔ 1
    Zv9_NA732(124929-125998) ENSDARG00000086898


    ENSEMBL Gene Tree for CCDC23 (if available)
    TreeFam Gene Tree for CCDC23 (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 CCDC23 (see all 223)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs740700331,2
    C,F--43272239(+) GAAACA/CACCTT 1 -- int15Minor allele frequency- C:0.10WA NA 244
    rs112107211,2
    C,F,A,H--43272246(+) CCTTAC/TATTTC 1 -- int118Minor allele frequency- T:0.11NS EA NA CSA 2288
    rs729589661,2
    C,F--43272285(+) GAGGGC/TGGGTG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1861286201,2
    --43272400(+) TGCTGC/TTGATG 1 -- int10--------
    rs1394078461,2
    --43272457(+) TTCAGA/GCCTCT 1 -- int10--------
    rs1500456681,2
    --43272559(+) TTAGCC/TCCAGG 1 -- int10--------
    rs1900106581,2
    --43272607(+) CTCTCC/TGCCAA 1 -- int10--------
    rs1822871621,2
    --43272645(+) GCTCAC/TCTCAA 1 -- int10--------
    rs1865321061,2
    --43272698(+) GCTAGC/GCATTT 1 -- int10--------
    rs2019632181,2
    --43272816(+) TTTTT-/TGTGTGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC23 (43272723 - 43283059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CCDC23:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668067CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC23
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC23

    (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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    2 diseases for CCDC23:    
    About MalaCards
    endotheliitis    hepatocellular carcinoma


    CCDC23 for disorders           About GeneDecksing


    Export disorders for CCDC23 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 CCDC23 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    2. 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)
    3. Vasohibin 2 is transcriptionally activated and promotes angiogenesis in hepatocellular carcinoma. (PubMed id 22614011)1 Xue X....Kondo Y. (Oncogene 2013)
    4. 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)
    5. Isolation of a small vasohibin-binding protein (SVBP) and its role in vasohibin secretion. (PubMed id 20736312)1 Suzuki Y....Sato Y. (J. Cell. Sci. 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 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)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 374969 HGNC: 29204 AceView: LOC374969 Ensembl:ENSG00000177868 euGenes: HUgn374969
    ECgene: CCDC23 H-InvDB: CCDC23

    (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 CCDC23 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 CCDC23 gene:
    Search GeneIP for patents involving CCDC23

    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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