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CCDC108 Gene

protein-coding   GIFtS: 46
GCID: GC02M219869

Coiled-Coil Domain Containing 108

  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)
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Aliases
Coiled-Coil Domain Containing 1081 2
Coiled-Coil Domain-Containing Protein 1082

External Ids:    HGNC: 253251   Entrez Gene: 2551012   Ensembl: ENSG000001813787   OMIM: 6142705   UniProtKB: Q6ZU643   

Export aliases for CCDC108 gene to outside databases

Previous GC identifers: GC02M219575 GC02M211721


(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 CCDC108 Gene:
CCDC108 (coiled-coil domain containing 108) is a protein-coding gene. Diseases associated with CCDC108 include schizophrenia. GO annotations related to this gene include structural molecule activity.


(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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC108 gene promoter:
         Pax-5   Pax-6   XBP-1   CUTL1   MZF-1   CBF-B   CBF-A   CP1A   Pax-4a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC108 promoter sequence
   Search Chromatin IP Primers for CCDC108

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC108


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

CCDC108 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC108 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M219869:  view genomic region     (about GC identifiers)

Start:
219,867,568 bp from pter      End:
219,906,249 bp from pter
Size:
38,682 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: CC108_HUMAN, Q6ZU64 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 108  
Size: 1925 amino acids; 217250 Da
Sequence caution: Sequence=AAH31585.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC86362.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC86878.1;
Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
Secondary accessions: A2BDD8 E9PCR1 Q6ZSR8 Q8N0T4 Q8NDJ3
Alternative splicing: 2 isoforms:  Q6ZU64-1   Q6ZU64-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC108: NX_Q6ZU64

Explore proteomics data for CCDC108 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC108 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001265224.1  NP_001265225.1  NP_689602.2  NP_919278.2  

    ENSEMBL proteins: 
     ENSP00000340776   ENSP00000394019   ENSP00000386945   ENSP00000386258   ENSP00000393483  
     ENSP00000396836   ENSP00000295729   ENSP00000413746   ENSP00000413377   ENSP00000409117  
     ENSP00000313807  

    CCDC108 Human Recombinant Protein Products:

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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:
     IPR000535 MSP_dom

    Graphical View of Domain Structure for InterPro Entry Q6ZU64

    ProtoNet protein and cluster: Q6ZU64

    1 Blocks protein domain: IPB000535 Major sperm protein (MSP) domain

    UniProtKB/Swiss-Prot: CC108_HUMAN, Q6ZU64
    Similarity: Contains 1 MSP domain


    CCDC108 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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    CCDC108 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CCDC108:
     Increased circadian rhythm amp 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC108
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    miRNA
    Products:
        
    miRTarBase miRNAs that target CCDC108:
    hsa-mir-335-5p (MIRT016765)

    Block miRNA regulation of human, mouse, rat CCDC108 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC108 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC108

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    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC108 (NM_194302)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC108
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CCDC108

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC108


    (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
    CC108_HUMAN, Q6ZU64: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    CCDC108 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 CCDC108
    Interactions:

        Search GeneGlobe Interaction Network for CCDC108

    (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 CCDC108 (CC108)



    (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 CCDC108 gene (4 alternative transcripts): 
    NM_001278295.1  NM_001278296.1  NM_152389.3  NM_194302.3  

    Unigene Cluster for CCDC108:

    Coiled-coil domain containing 108
    Hs.147762  [show with all ESTs]
    Unigene Representative Sequence: NM_194302
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341552(uc002vjl.1) ENST00000413871(uc002vjm.3) ENST00000462848(uc010fwa.1 uc010zkp.1 uc010zkq.1)
    ENST00000474601 ENST00000463683 ENST00000409865 ENST00000410037 ENST00000457968
    ENST00000436631 ENST00000295729(uc002vjn.3) ENST00000458526 ENST00000441968
    ENST00000453220 ENST00000324264
    miRNA
    Products:
         
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC108 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC108
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    OriGene clones in human, mouse for CCDC108 (see all 9)
    OriGene ORF clones in mouse, rat for CCDC108
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC108 (NM_194302)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC108
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CCDC108
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC108
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC108
      QuantiFast Probe-based Assays in human, mouse, rat CCDC108

    Additional mRNA sequence: 

    AK092605.1 AK123235.1 AK125957.1 AK127189.1 AK302678.1 AK302688.1 AL833882.1 BC031585.1 
    BC039688.1 BC047637.1 BC130281.1 BX649039.1 NR_046086.1 

    10 DOTS entries:

    DT.97826370  DT.100016071  DT.99999940  DT.99927319  DT.101983473  DT.99933537  DT.120940088  DT.120940097 
    DT.70104165  DT.75179672 

    Selected AceView cDNA sequences (see all 44):

    AK125957 BC047637 NM_194302 BX102983 AK123235 CB852840 BU608857 CA503105 
    AL833882 BC039688 BP357499 AI791496 BX419502 BX649039 AI214814 CA450083 
    AI791328 AI798905 BI824095 BI461596 AW087742 BC031585 AK127189 BI856280 

    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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    CCDC108 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGCTAGGGG
    CCDC108 Expression
    About this image


    CCDC108 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    CCDC108 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC108 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.147762
        Custom PCR Arrays for CCDC108
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC108

    (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 CCDC108 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1081 , 5 coiled-coil domain containing 1081, 5 78.21(n)1
    73.04(a)1
      1 (38.54 cM)5
    2411161  NM_001039495.11  NP_001034584.11 
     749020715 
    chicken
    (Gallus gallus)
    Aves CCDC1081 coiled-coil domain containing 108 59.01(n)
    49.33(a)
      424206  XM_422054.4  XP_422054.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1086
    coiled-coil domain containing 108
    48(a)
    1 ↔ 1
    1(87893835-87926967)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc1081 coiled-coil domain containing 108 54.33(n)
    45.86(a)
      100144742  NM_001123490.1  NP_001116962.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch1073-349o24.21 si:ch1073-349o24.2 50.68(n)
    39.28(a)
      100333283  XM_002663322.2  XP_002663368.2 


    ENSEMBL Gene Tree for CCDC108 (if available)
    TreeFam Gene Tree for CCDC108 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC108 gene
    1 SIMAP similar gene for CCDC108 using alignment to 8 protein entries:     CC108_HUMAN (see all proteins):
    MGC35338

    CCDC108 for paralogs           About GeneDecksing



    (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 CCDC108 (see all 771)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1853801881,2
    --219880951(+) GGGTCC/GTTTAA 1 -- int10--------
    rs601689211,2
    --219881127(+) TTCTCC/TTGCCT 1 -- int10--------
    rs1878560441,2
    --219881133(+) TGCCTC/TAGCCT 1 -- int10--------
    rs1919006271,2
    --219881347(+) CCCCTG/TTCCCT 1 -- int10--------
    rs126225591,2
    C,F,H--219881377(+) CTTCTG/ATGCCA 1 -- int11Minor allele frequency- A:0.50NA 4
    rs1396380891,2
    --219881426(+) CAACAC/TGTCCC 1 -- int10--------
    rs1428483401,2
    --219881450(+) GCTAAC/TCCATT 1 -- int10--------
    rs1836939971,2
    --219881472(+) ACCAGC/TGTGAC 1 -- int10--------
    rs613696561,2
    C--219881518(+) TCCCCG/AATGCC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs739933991,2
    C--219881599(+) CCCCTG/ACCCGC 1 -- int14Minor allele frequency- A:0.29WA CSA EA 241

    HapMap Linkage Disequilibrium report for CCDC108 (219867568 - 219906249 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CCDC108:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834542CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC108
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC108

    (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: 614270    OMIM disorders: --

    1 disease for CCDC108:    
    About MalaCards
    schizophrenia


    CCDC108 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC108

    Export disorders for CCDC108 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 CCDC108 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC108)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Exome sequencing supports a de novo mutational paradigm for schizophrenia. (PubMed id 21822266)1 Xu B....Karayiorgou M. (Nat. Genet. 2011)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 255101 HGNC: 25325 AceView: MGC35338andDKFZp434O0527 Ensembl:ENSG00000181378 euGenes: HUgn255101
    ECgene: CCDC108 H-InvDB: CCDC108

    (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 CCDC108 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 CCDC108 gene:
    Search GeneIP for patents involving CCDC108

    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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