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

CCDC8 Gene

protein-coding   GIFtS: 50
GCID: GC19M046914

Coiled-Coil Domain Containing 8

  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)
About This Section

Aliases
Coiled-Coil Domain Containing 81 2     PPP1R202
Protein Phosphatase 11     Coiled-Coil Domain-Containing Protein 82
Regulatory Subunit 201     p902
3M32     Protein Phosphatase 1, Regulatory Subunit 202

External Ids:    HGNC: 253671   Entrez Gene: 839872   Ensembl: ENSG000001695157   OMIM: 6141455   UniProtKB: Q9H0W53   

Export aliases for CCDC8 gene to outside databases

Previous GC identifers: GC00U914333 GC19M051606 GC19M051607 GC19M043345


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

Entrez Gene summary for CCDC8 Gene:
This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required
for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the
cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3).
(provided by RefSeq, Dec 2011)

GeneCards Summary for CCDC8 Gene: 
CCDC8 (coiled-coil domain containing 8) is a protein-coding gene. Diseases associated with CCDC8 include 3-m syndrome, and 3-m syndrome, ccdc8-related.

Gene Wiki entry for CCDC8 Gene


(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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC8 gene promoter:
         NRSF form 1   Nkx2-5   NRSF form 2   AP-2gamma   Ik-2   HSF2   AP-2beta   AP-2alpha   Hlf   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC8 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC8


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.33

CCDC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M046914:  view genomic region     (about GC identifiers)

Start:
46,913,586 bp from pter      End:
46,916,919 bp from pter
Size:
3,334 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: CCDC8_HUMAN, Q9H0W5 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 8  
Size: 538 amino acids; 59374 Da
Subunit: Interacts with OBSL1
Secondary accessions: Q8TB26

Explore the universe of human proteins at neXtProt for CCDC8: NX_Q9H0W5

Explore proteomics data for CCDC8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H0W5

  • CCDC8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC8 Protein Expression
    REFSEQ proteins: NP_114429.2  
    ENSEMBL proteins: 
     ENSP00000303158  

    Human Recombinant Protein Products for CCDC8: 
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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:0005886plasma membrane IDA--

    CCDC8 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
    HGNC Gene Families: 
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    2 InterPro protein domains:
     IPR026523 PNMA
     IPR026526 Coiled-coil_p8

    Graphical View of Domain Structure for InterPro Entry Q9H0W5

    ProtoNet protein and cluster: Q9H0W5


    CCDC8 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,
    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

    Phenotypes:
         1 GenomeRNAi human phenotype for CCDC8:
     Increased number of cells in m 

    Animal Models:
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    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 CCDC8

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/65 Interacting proteins for CCDC8 (Q9H0W52 ENSP000003031584) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBXW8Q8N3Y12, ENSP000003106864MINT-8415355 STRING: ENSP00000310686
    TP53P046372, ENSP000002693054MINT-8415355 STRING: ENSP00000269305
    BAG2O958162MINT-8415355
    BAG6P463792MINT-8415355
    CCT2P783712MINT-8415355
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010923negative regulation of phosphatase activity IDA19389623

    CCDC8 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 CCDC8

    Search CenterWatch for drugs/clinical trials and news about CCDC8

    (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 CCDC8 gene: 
    NM_032040.4  

    Unigene Cluster for CCDC8:

    Coiled-coil domain containing 8
    Hs.97876  [show with all ESTs]
    Unigene Representative Sequence: NM_032040
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000307522(uc002pep.3)
    miRNA
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    hsa-miR-3173-3p hsa-miR-204 hsa-miR-1291 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidCCDC8 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for CCDC8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC8
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    Additional mRNA sequence: 

    AK297668.1 AL136609.1 BC015648.2 BC025243.1 JN703457.1 

    3 DOTS entries:

    DT.103092  DT.92420913  DT.100674192 

    24/73 AceView cDNA sequences (see all 73):

    AI888642 AI682276 AW572293 AI678256 AI867969 AA402930 AA446559 BX096201 
    AA639998 BX380957 BU844431 BC015648 BC025243 AA459285 AI910716 BF477713 
    BF437168 BM718199 AL136609 AA452408 AW589945 BG338201 AW593877 NM_032040 

    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

    CCDC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCGGGCTC
    CCDC8 Expression
    About this image


    See CCDC8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC8

    SOURCE GeneReport for Unigene cluster: Hs.97876

    UniProtKB/Swiss-Prot: CCDC8_HUMAN, Q9H0W5
    Tissue specificity: Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver

        SABiosciences Custom PCR Arrays for CCDC8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC8

    (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 human and mouse.

    Orthologs for CCDC8 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc81 , 5 coiled-coil domain containing 81, 5 68.62(n)1
    58.6(a)1
      7 (9.15 cM)5
    4341301  NM_001101535.11  NP_001095005.11 
     169927085 


    ENSEMBL Gene Tree for CCDC8 (if available)
    TreeFam Gene Tree for CCDC8 (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

    10/201 SNPs in CCDC8 are shown (see all 201)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794600101,2
    C--46913109(+) AAAAG-/AAAAAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs2008338061,2
    C--46913154(+) AGCCTC/TTTTTT 1 -- ds50010--------
    rs129830671,2
    C--46913200(+) TCACTC/GTGTCA 1 -- ds50016Minor allele frequency- G:0.08NA WA CSA 12
    rs1871667911,2
    --46913366(+) CACCAC/TGTTGG 1 -- ds50010--------
    rs1928204211,2
    --46913370(+) ACGTTA/GGCCAG 1 -- ds50010--------
    rs1852504461,2
    --46913395(+) CTTGAC/TCTCGT 1 -- ds50010--------
    rs739424211,2
    C,F--46913532(+) GTTGCG/CCAGAT 1 -- ds50011Minor allele frequency- C:0.50WA 2
    rs1901015651,2
    --46913584(+) GCACCA/GCTAGC 1 -- ds50010--------
    rs104125511,2
    C,F,A,H--46913749(+) CAAGCG/AAAGTG 1 -- ut3120Minor allele frequency- A:0.20NS EA NA WA CSA 2343
    rs1381059421,2
    C--46913811(+) GCAAGA/GGCCAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC8 (46913586 - 46916919 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CCDC8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912185CNV Loss21882294
    nsv912184CNV Gain21882294


    Human Gene Mutation Database (HGMD): CCDC8
    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
    OMIM gene information: 614145    OMIM disorders: --

    UniProtKB/Swiss-Prot: CCDC8_HUMAN, Q9H0W5
  • 3M syndrome 3 (3M3) [MIM:614205]: A disorder characterized by poor postnatal growth and distinctive
    facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other
    features may include skeletal anomalies and prominent heels. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 3 diseases for CCDC8:    About MalaCards
    3-m syndrome    3-m syndrome, ccdc8-related    thyroiditis


    CCDC8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC8

    Export disorders for CCDC8 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 CCDC8 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CCDC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    2. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth. (PubMed id 21737058)1, 2 Hanson D.... Black G.C. (2011)
    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. (2004)
    4. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    5. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lea d to disordered growth factor signalling. (PubMed id 23018678)1 Hanson D....Clayton P.E. (2012)
    6. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechani sm regulates Golgi morphology and dendrite patterning. (PubMed id 21572988)1 Litterman N....Bonni A. (2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90. (PubMed id 22084066)1 Dai C.... Gu W. (2011)
    9. The genetics of 3-m syndrome: unravelling a potential new regulatory growth pathway. (PubMed id 22156540)1 Hanson D....Clayton P.E. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (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: 83987 HGNC: 25367 AceView: CCDC8 Ensembl:ENSG00000169515 euGenes: HUgn83987
    ECgene: CCDC8 H-InvDB: CCDC8

    (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 CCDC8 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 CCDC8 gene:
    Search GeneIP for patents involving CCDC8

    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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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