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CCDC81 Gene

protein-coding   GIFtS: 43
GCID: GC11P086085

Coiled-Coil Domain Containing 81

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(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 811 2
Coiled-Coil Domain-Containing Protein 812

External Ids:    HGNC: 262811   Entrez Gene: 604942   Ensembl: ENSG000001492017   UniProtKB: Q6ZN843   

Export aliases for CCDC81 gene to outside databases

Previous GC identifers: GC11P085764 GC11P082374


(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 CCDC81 Gene:
CCDC81 (coiled-coil domain containing 81) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC81 gene promoter:
         AP-1   POU6F1 (c2)   NF-E2 p45   HEN1   E2F-1   E2F   Cart-1   NF-E2   RSRFC4   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC81 promoter sequence
   Search Chromatin IP Primers for CCDC81

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC81


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

Entrez Gene cytogenetic band: 11q14.2   Ensembl cytogenetic band:  11q14.2   HGNC cytogenetic band: 11q14.2

CCDC81 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC81 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P086085:  view genomic region     (about GC identifiers)

Start:
86,085,778 bp from pter      End:
86,134,151 bp from pter
Size:
48,374 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CCD81_HUMAN, Q6ZN84 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 81  
Size: 652 amino acids; 76084 Da
Sequence caution: Sequence=BAD96888.1; Type=Erroneous initiation;
Secondary accessions: A0AVL7 Q53FW3 Q9H5E5
Alternative splicing: 3 isoforms:  Q6ZN84-1   Q6ZN84-2   Q6ZN84-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC81: NX_Q6ZN84

Explore proteomics data for CCDC81 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC81 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001149946.1  NP_068599.3  

    ENSEMBL proteins: 
     ENSP00000346800   ENSP00000434959   ENSP00000415528   ENSP00000437165   ENSP00000278487  

    CCDC81 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CCDC81

     
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    Cloud-Clone Corp. ELISAs for CCDC81
    Cloud-Clone Corp. CLIAs for CCDC81
    Search eBioscience for ELISAs for CCDC81 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026295 Coiled-coil_dom_cont_p_81
     IPR028034 DUF4496

    Graphical View of Domain Structure for InterPro Entry Q6ZN84

    ProtoNet protein and cluster: Q6ZN84


    Find genes that share domains with CCDC81           About GenesLikeMe


    (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, 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
         
    Find genes that share ontologies with CCDC81           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CCDC81:
     Increased S DNA content  Increased circadian period len 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC81
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    1 qRT-PCR Assays for microRNA that regulate CCDC81:
    hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidCCDC81 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CCDC81
    Predesigned siRNA for gene silencing in human, mouse, rat CCDC81

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    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC81 (NM_021827)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC81
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC81

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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
    cytosol2
    nucleus2
    plasma membrane2

    (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 CCDC81
    Interactions:

        Search GeneGlobe Interaction Network for CCDC81

    (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 CCDC81 (CCD81)



    (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 CCDC81 gene (2 alternative transcripts): 
    NM_001156474.1  NM_021827.4  

    Unigene Cluster for CCDC81:

    Coiled-coil domain containing 81
    Hs.144913  [show with all ESTs]
    Unigene Representative Sequence: NM_001156474
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354755(uc001pbw.2) ENST00000531271 ENST00000445632 ENST00000530845
    ENST00000532466 ENST00000532215 ENST00000529603 ENST00000528728(uc010rtq.2 uc001pby.2)
    ENST00000531587 ENST00000525247 ENST00000278487(uc001pbx.2)
    miRNA
    Products:
         
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    1 qRT-PCR Assays for microRNA that regulate CCDC81:
    hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidCCDC81 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC81
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    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC81 (NM_021827)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC81
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC81
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC81
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC81
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC81
      QuantiFast Probe-based Assays in human, mouse, rat CCDC81

    Additional mRNA sequence: 

    AK027167.1 AK131331.1 AK223168.1 AK298875.1 BC126412.1 

    5 DOTS entries:

    DT.101974518  DT.120714541  DT.70104034  DT.40126850  DT.101956977 

    Selected AceView cDNA sequences (see all 26):

    BE352846 BP372183 BF222927 BX098950 BX645417 AI655157 CA393848 BM988671 
    AK027167 BP373456 BE352845 AA939053 CA448567 BG392622 AK131331 BP373802 
    NM_021827 BI826845 AI073989 BM978866 AI916807 AI218035 CD684893 BP430940 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CCDC81 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:                    -                       -     -     -                                                                                             
    SP2:                                                                                            -     -                                                   
    SP3:                                                                    -     -           -     -     -                                                   
    SP4:                                                                    -     -                                                                           
    SP5:                                                                    -     -                 -     -                                                   


    ECgene alternative splicing isoforms for CCDC81

    (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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    CCDC81 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTTGTGTA
    CCDC81 Expression
    About this image


    CCDC81 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
     
     NULL (Uncategorized)
             Definitive endoderm-like cells
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    CCDC81 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC81 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.144913
        Custom PCR Arrays for CCDC81
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC81

    (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 CCDC81 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc811 , 5 coiled-coil domain containing 811, 5 83(n)1
    78.8(a)1
      7 (50.38 cM)5
    708841  NM_001162979.11  NP_001156451.11 
     898661485 
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 4)
    Uncharacterized protein
    (see all 4)
    38(a)
    28(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    1(189691377-189694222) ENSGALG00000027130
    Z(64783971-64788296) ENSGALG00000015555
    lizard
    (Anolis carolinensis)
    Reptilia CCDC816
    coiled-coil domain containing 81
    52(a)
    1 ↔ 1
    3(200357952-200389192)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc811 coiled-coil domain containing 81 58.41(n)
    50.78(a)
      100145462  NM_001126915.1  NP_001120387.1 


    ENSEMBL Gene Tree for CCDC81 (if available)
    TreeFam Gene Tree for CCDC81 (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 CCDC81 (see all 1040)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1823717571,2
    --86083942(+) TGTACC/TTCTCT 2 -- us2k10--------
    rs2921051,2
    C,F,A,H--86083998(+) CATGCT/CCTTGT 2 -- us2k1 tfbs311Minor allele frequency- C:0.50NS EA NA WA CSA 786
    rs2921061,2
    C,F,A,H--86084069(+) ACAAAA/GTTTTG 2 -- us2k123Minor allele frequency- G:0.36NS EA NA WA 2762
    rs1491144311,2
    --86084161(+) AATACC/GTATGC 2 -- us2k10--------
    rs2921071,2
    C,F,A,H--86084177(-) ATAAGT/AATATA 2 -- us2k1 tfbs310Minor allele frequency- A:0.20NS EA NA WA 766
    rs1851247741,2
    --86084274(+) AGCACA/GTAAAT 2 -- us2k10--------
    rs1910745771,2
    --86084322(+) CCAATA/GTATGT 2 -- us2k10--------
    rs6143011,2
    C,F,A,H--86084388(-) TTTATA/CATGTT 2 -- us2k1 tfbs310Minor allele frequency- C:0.33NS EA NA WA 738
    rs1835406291,2
    --86084404(+) TTGCAA/TATACA 2 -- us2k10--------
    rs1887666621,2
    --86084793(+) ATGTAC/TTGTAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC81 (86085778 - 86134151 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CCDC81: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC81
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC81

    (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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    Find genes that share disorders with CCDC81           About GenesLikeMe

    Genetic Association Database (GAD): CCDC81

    Export disorders for CCDC81 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 CCDC81 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC81)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)

    (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: 60494 HGNC: 26281 AceView: FLJ23514 Ensembl:ENSG00000149201 euGenes: HUgn60494
    ECgene: CCDC81 H-InvDB: CCDC81

    (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 CCDC81 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CCDC81 gene:
    Search GeneIP for patents involving CCDC81

    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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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