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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCDC23 Gene

protein-coding   GIFtS: 39
GCID: GC01M043272

Coiled-Coil Domain Containing 23

  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CCDC23 Gene: 
CCDC23 (coiled-coil domain containing 23) is a protein-coding gene. Diseases associated with CCDC23 include endotheliitis.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC23 gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N300

  • CCDC23 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC23 Protein Expression
    REFSEQ proteins: NP_955374.1  
    ENSEMBL proteins: 
     ENSP00000361600   ENSP00000361599   ENSP00000442851  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    CCDC23 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC23 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC23 
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC23 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCDC23 (CCD23)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
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                         Customized lentivirus expression plasmids for stable overexpression of CCDC23 
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    Additional mRNA sequence: 

    AK291356.1 BC029427.1 

    5 DOTS entries:

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

    24/114 AceView cDNA sequences (see all 114):

    BM931566 AA948514 BG205453 AI187077 BG195652 BG198675 BG200240 W23590 
    AA251809 AI264114 BM931514 AI581511 BG186325 AI204071 AA011212 AI084430 
    CB266380 BU153134 AI299167 AI038753 AW207265 AI700988 AI128626 AA769121 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See CCDC23 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC23

    SOURCE GeneReport for Unigene cluster: Hs.113919
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CCDC23 gene from 3/8 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
    Uncharacterized protein
    70(a)
    1 ↔ 1
    GL343980.1(25319-28627)
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC236
    Coiled-coil domain-containing protein 23
    68(a)
    1 ↔ 1
    Zv9_NA732(124929-125998)


    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/223 SNPs in CCDC23 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    2 diseases for CCDC23:    About MalaCards
    endotheliitis    


    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)
    About This Section

    PubMed articles for CCDC23 gene integrated from 9 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. (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. (2004)
    3. Vasohibin 2 is transcriptionally activated and promote s angiogenesis in hepatocellular carcinoma. (PubMed id 22614011)1 Xue X....Kondo Y. (2013)
    4. Isolation of a small vasohibin-binding protein (SVBP) and its role in vasohibin secretion. (PubMed id 20736312)1 Suzuki Y....Sato Y. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    6. 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. (2002)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 374969 HGNC: 29204 AceView: LOC374969 Ensembl:ENSG00000177868 euGenes: HUgn374969
    ECgene: CCDC23 H-InvDB: CCDC23

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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