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

CCDC93 Gene

protein-coding   GIFtS: 45
GCID: GC02M118673

coiled-coil domain containing 93

 Explore 1 disease affiliated with
CCDC93 via our new
 Human Malady Compendium 
Biological research products
for CCDC93
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 931 2
FLJ109961
Coiled-Coil Domain-Containing Protein 932

External Ids:    HGNC: 256111   Entrez Gene: 545202   Ensembl: ENSG000001256337   UniProtKB: Q567U63   

Export aliases for CCDC93 gene to outside databases

Previous GC identifers: GC02M118389 GC02M111000


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

Gene Wiki entry for CCDC93


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC93 gene promoter:
         GR   TBP   ATF-2   FOXO3   LUN-1   FOXO3b   POU2F1a   FOXO3a   GR-alpha   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC93 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC93

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC93


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

Entrez Gene cytogenetic band: 2q14.1   Ensembl cytogenetic band:  2q14.1   HGNC cytogenetic band: 2q14.1

CCDC93 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC93 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M118673:  view genomic region     (about GC identifiers)

Start:
118,673,054 bp from pter      End:
118,771,709 bp from pter
Size:
98,656 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CCD93_HUMAN, Q567U6 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 93  
Size: 631 amino acids; 73198 Da
Sequence caution: Sequence=BAB15188.1; Type=Erroneous initiation; Sequence=BAE06075.1; Type=Erroneous initiation;
Secondary accessions: A8K3V7 Q4LE78 Q53TJ2 Q8TBX5 Q9H6R5 Q9NV15

Explore the universe of human proteins at neXtProt for CCDC93: NX_Q567U6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q567U6

  • CCDC93 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_061917.3  
    ENSEMBL proteins: 
     ENSP00000365477   ENSP00000324135   ENSP00000392989  

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

    CCDC93 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019159 DUF2037

    Graphical View of Domain Structure for InterPro Entry Q567U6

    ProtoNet protein and cluster: Q567U6

    UniProtKB/Swiss-Prot: CCD93_HUMAN, Q567U6
    Similarity: Belongs to the CCDC93 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-1178 hsa-miR-148b* hsa-let-7d hsa-miR-1260b hsa-let-7c hsa-miR-374c hsa-miR-548m hsa-let-7g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC93

    3 GenomeRNAi human phenotypes for CCDC93:
     G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC93

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

    5/6 Interacting proteins for CCDC93 (Q567U63 ENSP000003654774) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC1Q9NV703, ENSP000003265144I2D: score=1 STRING: ENSP00000326514
    TRAF3IP1Q8TDR03, ENSP000003624244I2D: score=2 STRING: ENSP00000362424
    EXOC7Q9UPT53I2D: score=2 
    SLC2A4P146723I2D: score=1 
    KNCNENSP000003796074STRING: ENSP00000379607
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 CCDC93
    Search CenterWatch for drugs/clinical trials and news about CCDC93 / CCD93 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCDC93 gene: 
    NM_019044.4  

    Unigene Cluster for CCDC93:

    Coiled-coil domain containing 93
    Hs.107845  [show with all ESTs]
    Unigene Representative Sequence: NM_019044
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376300(uc002tlj.3 uc010fld.2) ENST00000319432 ENST00000437999
    ENST00000474546 ENST00000470650 ENST00000466171 ENST00000488908 ENST00000460781
    ENST00000474006

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    hsa-miR-1178 hsa-miR-148b* hsa-let-7d hsa-miR-1260b hsa-let-7c hsa-miR-374c hsa-miR-548m hsa-let-7g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC93 (see all 7)
    OriGene shRNA RFP: CCDC93
    OriGene siRNA: CCDC93
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC93
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC93
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    Additional cDNA sequence: 

    AB209993.1 AF070582.1 AK001858.1 AK025611.1 AK057926.1 AK124683.1 AK290722.1 AK309040.1 
    AL050001.1 AY726577.1 BC005078.1 BC012052.1 BC028609.1 BC080559.1 BC093018.1 

    8 DOTS entries:

    DT.308353  DT.91718236  DT.433878  DT.40119324  DT.104336  DT.91690521  DT.100857480  DT.213560 

    24/232 AceView cDNA sequences (see all 232):

    AI167492 AI401641 AA700405 BC012052 AK025611 BE019005 BU161601 AI124007 
    BC080559 AI819954 AI379510 BP375302 BU633676 BU178513 AI379089 AI476544 
    CK820326 BM972566 BM710635 AA865961 BQ446970 BU621185 AA703071 AA720610 

    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

    CCDC93 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATGGTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CCDC93 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeDiencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CCDC93 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC93

    SOURCE GeneReport for Unigene cluster: Hs.107845
        SABiosciences Custom PCR Arrays for CCDC93
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC93

    (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 eukaryotes.

    Orthologs for CCDC93 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc931 , 5 coiled-coil domain containing 931, 5 86.8(n)1
    92.05(a)1
      1 (52.97 cM)5
    708291  NM_001025156.21  NP_001020327.11 
     1214310495 
    chicken
    (Gallus gallus)
    Aves CCDC931 coiled-coil domain containing 93 75.27(n)
    80.84(a)
      424277  NM_001031262.1  NP_001026433.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC936
    --
    80(a)
    1 ↔ 1
    1(82195634-82236994)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD361732.12   -- 74.83(n)    CD361732.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ078420.12   -- 79.41(n)    BQ078420.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fidipidine1 CG7773-PA 50.21(n)
    41.71(a)
      36808  NM_079036.4  NP_523760.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C16A11.21 Protein C16A11.2 39.3(n)
    24.25(a)
      173758  NM_001026788.4  NP_001021959.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G325601 paramyosin-related protein 44.52(n)
    30.36(a)
      829391  NM_202933.2  NP_974662.1 


    ENSEMBL Gene Tree for CCDC93 (if available)
    TreeFam Gene Tree for CCDC93 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCDC93 gene

    CCDC93 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CCDC93
    PGOHUM00000245134 PGOHUM00000241132


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1792 NCBI SNPs in CCDC93 are shown (see all 1792    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs346257971,2
    C--111071724(+) CTATT-/AAAAAA 1 -- int10--------
    rs1167187141,2
    --118672592(+) CCCCTC/GACTGG 1 -- int10--------
    rs1391938431,2
    --118672633(+) ACACAC/TGGCCA 1 -- int10--------
    rs728343731,2
    C,F,--118672643(+) ACCTCG/AGAGCT 1 -- int11Minor allele frequency- A:0.09NA 120
    rs21135911,2
    C,H--118672719(+) GGTTTC/TTACAC 1 -- int16Minor allele frequency- T:0.00NS EA NA 598
    rs1431031981,2
    --118672722(+) TTCTAC/TACAAG 1 -- int10--------
    rs762522711,2
    C--118672786(+) GGTATA/GCCTAT 1 -- int10--------
    rs1437841961,2
    --118672811(+) AAGTCA/GGAGGA 1 -- int10--------
    rs1481349351,2
    --118672868(+) AGCCCA/GTCTGT 1 -- int10--------
    rs1843939811,2
    --118672966(+) CAGCCC/TCTGCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC93 (118673054 - 118771709 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CCDC93
         1 CNV: 50268

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CCDC93 for disorders           About GeneDecksing

    1 disease for CCDC93:    About MalaCards
    schizophrenia


    Export disorders for CCDC93 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 CCDC93 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with CCDC93)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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. (2002)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    6. Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35. (PubMed id 22070227)1 Harbour M.E....Seaman M.N. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (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: 54520 HGNC: 25611 AceView: FLJ10996 Ensembl:ENSG00000125633 euGenes: HUgn54520
    ECgene: CCDC93 H-InvDB: CCDC93

    (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 CCDC93 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 CCDC93 gene:
    Search GeneIP for patents involving CCDC93

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    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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