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CCDC19 Gene

protein-coding   GIFtS: 47
GCID: GC01M159842

Coiled-Coil Domain Containing 19

  See CCDC19-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 191 2
NESG12 3 5
Nasopharyngeal Epithelium-Specific Protein 12 3
Coiled-Coil Domain-Containing Protein 19, Mitochondrial2
Nasopharyngeal Epithelium Specific Protein 1 (NESG1)2

External Ids:    HGNC: 172291   Entrez Gene: 257902   Ensembl: ENSG000002130857   OMIM: 6051525   UniProtKB: Q9UL163   

Export aliases for CCDC19 gene to outside databases

Previous GC identifers: GC01M156656 GC01M158109 GC01M158110 GC01M131198


(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 CCDC19 Gene:
CCDC19 (coiled-coil domain containing 19) is a protein-coding gene. Diseases associated with CCDC19 include nasopharynx 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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC19 gene promoter:
         GATA-3   AP-1   MyoD   Pax-2   Pax-2a   STAT5A   Tal-1beta   GATA-2   GATA-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC19 promoter sequence
   Search Chromatin IP Primers for CCDC19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC19


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

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q23.2

CCDC19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC19 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M159842:  view genomic region     (about GC identifiers)

Start:
159,842,154 bp from pter      End:
159,869,953 bp from pter
Size:
27,800 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CCD19_HUMAN, Q9UL16 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 19, mitochondrial precursor  
Size: 551 amino acids; 65730 Da
Sequence caution: Sequence=AAD55817.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAD55817.1; Type=Frameshift; Positions=441;
Secondary accessions: Q5VU18

Explore the universe of human proteins at neXtProt for CCDC19: NX_Q9UL16

Explore proteomics data for CCDC19 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036469.2  
    ENSEMBL proteins: 
     ENSP00000357079   ENSP00000403044  

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    antibodies-online peptides for CCDC19

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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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    ProtoNet protein and cluster: Q9UL16


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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:
       genOway: Develop your customized and physiologically relevant rodent model for CCDC19

    miRNA
    Products:
        
    miRTarBase miRNAs that target CCDC19:
    hsa-mir-103a-3p (MIRT027210), hsa-mir-16-5p (MIRT032074)

    Block miRNA regulation of human, mouse, rat CCDC19 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCDC19 (see all 9):
    hsa-miR-374b* hsa-miR-424 hsa-miR-15a hsa-miR-503 hsa-miR-195 hsa-miR-497 hsa-miR-16 hsa-miR-15b
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC19

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC19


    (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 UniProtKB/Swiss-Prot
    CCD19_HUMAN, Q9UL16: Mitochondrion (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion3
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10524255
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with CCDC19           About GenesLikeMe


    (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 CCDC19
    Interactions:

        Search GeneGlobe Interaction Network for CCDC19

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

    2 Interacting proteins for CCDC19 (Q9UL163 ENSP000003570794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H2AFXP161043, ENSP000003643104I2D: score=1 STRING: ENSP00000364310
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    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 CCDC19 (CCD19)



    (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 CCDC19 gene: 
    NM_012337.2  

    Unigene Cluster for CCDC19:

    Coiled-coil domain containing 19
    Hs.647705  [show with all ESTs]
    Unigene Representative Sequence: BC089391
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479861 ENST00000476696(uc009wtb.3 uc001fuj.3 uc009wtc.1)
    ENST00000368099(uc001fui.3) ENST00000475911 ENST00000479940 ENST00000426543(uc001fuk.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CCDC19 (see all 9):
    hsa-miR-374b* hsa-miR-424 hsa-miR-15a hsa-miR-503 hsa-miR-195 hsa-miR-497 hsa-miR-16 hsa-miR-15b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC19
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    OriGene ORF clones in mouse, rat for CCDC19
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    GenScript: all cDNA clones in your preferred vector: CCDC19 (NM_012337)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC19
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC19
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC19
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC19
      QuantiFast Probe-based Assays in human, mouse, rat CCDC19

    Additional mRNA sequence: 

    AF094758.1 AK225566.1 AK225582.1 AK292249.1 AK308262.1 BC027874.1 BC064386.1 BC089391.1 
    BC109055.1 

    9 DOTS entries:

    DT.40277206  DT.97776770  DT.100722143  DT.121405826  DT.101976853  DT.121405960  DT.121405835  DT.95101978 
    DT.95278792 

    Selected AceView cDNA sequences (see all 1765):

    BQ441680 BU677725 CR608199 BQ064944 BQ070877 AL554130 BQ064106 CR624026 
    BP349694 CR599010 CB150189 CB143214 CA406543 BX332839 BG480363 BQ051965 
    BM784869 CA422479 CF126251 AI818232 BG104499 BM541919 AA338557 BE273877 

    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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    CCDC19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGAGAAGG
    CCDC19 Expression
    About this image

    CCDC19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647705

    UniProtKB/Swiss-Prot: CCD19_HUMAN, Q9UL16
    Tissue specificity: Expressed in nasopharyngeal epithelium and trachea but not in esophagus, stomach, large
    intestine, liver, cerebrum, heart, bladder, kidney, thymus, or lung

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC19

    (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 CCDC19 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc191 , 5 coiled-coil domain containing 191, 5 84.75(n)1
    82.94(a)1
      1 (79.91 cM)5
    718701  NM_027972.11  NP_082248.11 
     1725210445 
    chicken
    (Gallus gallus)
    Aves CCDC191 coiled-coil domain containing 19 65.86(n)
    57.27(a)
      426452  XM_424097.4  XP_424097.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC196
    coiled-coil domain containing 19
    57(a)
    1 ↔ 1
    GL344387.1(29585-43742)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX852496.12   -- 72.38(n)    BX852496.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc64b082 wufc64b08 74.21(n)   325276  57051219 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG114491 CG11449 45.46(n)
    28.24(a)
      40467  NM_141133.1  NP_649390.1 


    ENSEMBL Gene Tree for CCDC19 (if available)
    TreeFam Gene Tree for CCDC19 (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 CCDC19 (see all 650)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1426544221,2
    C,Funtested1159857654(+) CTCCTC/G/TCTCCT 2 K E mis12NA EU 5875
    rs1851408531,2
    C--159841664(+) TGGGCA/CTGTGT 1 -- ds50010--------
    rs1493549941,2
    C--159841700(+) GAAAGA/GGTTCT 1 -- ds50010--------
    rs1446983611,2
    --159841739(+) GAGCCC/GCAGGT 1 -- ds50010--------
    rs1485807131,2
    --159841764(+) CTCCAC/TAGATG 1 -- ds50010--------
    rs1908299781,2
    --159841948(+) CAAGAC/TTGTGA 1 -- ds50010--------
    rs1820198681,2
    --159842031(+) AAAGAA/GCATCT 1 -- ds50010--------
    rs24945181,2
    C,F,A,H--159842088(+) CCCCAA/TCCTAT 1 -- ds500116Minor allele frequency- T:0.18NS EA NA WA CSA 754
    rs112652891,2
    C,F,A,H--159842103(+) CTCCAC/TCTTCA 1 -- ds500120Minor allele frequency- T:0.40NS EA NA WA 2346
    rs1461089111,2
    --159842130(+) ACATTC/TCCACA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CCDC19 (159842154 - 159869953 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CCDC19:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv872489CNV Loss21882294
    nsv464150CNV Gain19166990

    Human Gene Mutation Database (HGMD): CCDC19
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC19
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC19

    (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: 605152    OMIM disorders: --

    1 disease for CCDC19:    
    About MalaCards
    nasopharynx carcinoma

    1 disease from the University of Copenhagen DISEASES database for CCDC19:
    Nasopharynx carcinoma

    Find genes that share disorders with CCDC19           About GenesLikeMe


    Export disorders for CCDC19 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 CCDC19 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with CCDC19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a novel tissue-specific gene from human nasopharyngeal epithelium. (PubMed id 10524255)1, 2, 3 Li Z.... Cao Y. (Gene 1999)
    2. Proteomic features of potential tumor suppressor NESG1 in nasopharyngeal carcinoma. (PubMed id 22997098)1 Liu Z....Fang W. (Proteomics 2012)
    3. Decreased expression of updated NESG1 in nasopharyngeal carcinoma: its potential role and preliminarily functional mechanism. (PubMed id 20715168)1 Liu Z....Fang W. (Int. J. Cancer 2011)
    4. Potential tumor suppressor NESG1 as an unfavorable prognosis factor in nasopharyngeal carcinoma. (PubMed id 22140479)1 Liu Z....Fang W. (PLoS ONE 2011)
    5. Genome-wide association of serum bilirubin levels in Korean population. (PubMed id 20639394)1 Kang T.W....Kim Y.S. (Hum. Mol. Genet. 2010)
    6. Proteomic dissection of cell type-specific H2AX-interacting protein complex associated with hepatocellular carcinoma. (PubMed id 20000738)1 Yang X....Chen X. (J. Proteome Res. 2010)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    9. 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)
    10. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (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: 25790 HGNC: 17229 AceView: TAGLN2andNESG1andIGSF9 Ensembl:ENSG00000213085 euGenes: HUgn25790
    ECgene: CCDC19 H-InvDB: CCDC19

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CCDC19 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 CCDC19 gene:
    Search GeneIP for patents involving CCDC19

    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, eBioscience, antibodies-online, 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 genOway)
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