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CCDC94 Gene

protein-coding   GIFtS: 43
GCID: GC19P004247

Coiled-Coil Domain Containing 94

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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 941 2
Coiled-Coil Domain-Containing Protein 942

External Ids:    HGNC: 255181   Entrez Gene: 557022   Ensembl: ENSG000001052487   UniProtKB: Q9BW853   

Export aliases for CCDC94 gene to outside databases

Previous GC identifers: GC19P004194 GC19P004039


(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 CCDC94 Gene:
CCDC94 (coiled-coil domain containing 94) is a protein-coding gene. An important paralog of this gene is CCDC130.


(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_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC94 gene promoter:
         HOXA3   Pax-2   Pax-2a   STAT5A   AP-4   GATA-1   YY1   HEN1   Pax-2b   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC94 promoter sequence
   Search Chromatin IP Primers for CCDC94

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC94


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

CCDC94 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC94 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P004247:  view genomic region     (about GC identifiers)

Start:
4,247,076 bp from pter      End:
4,269,087 bp from pter
Size:
22,012 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., 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CCD94_HUMAN, Q9BW85 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 94  
Size: 323 amino acids; 37086 Da
Sequence caution: Sequence=AAC72949.1; Type=Frameshift; Positions=285;
Secondary accessions: O75270 Q9H862 Q9NW16

Explore the universe of human proteins at neXtProt for CCDC94: NX_Q9BW85

Explore proteomics data for CCDC94 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC94 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060544.2  
    ENSEMBL proteins: 
     ENSP00000262962   ENSP00000472772  

    CCDC94 Human Recombinant Protein Products:

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    antibodies-online proteins for CCDC94 (3 products) 

     
    antibodies-online peptides for CCDC94

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    antibodies-online kits for CCDC94 (16 products) 


    (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:
     IPR007590 CWC16

    Graphical View of Domain Structure for InterPro Entry Q9BW85

    ProtoNet protein and cluster: Q9BW85

    UniProtKB/Swiss-Prot: CCD94_HUMAN, Q9BW85
    Similarity: Belongs to the CWC16 family


    Find genes that share domains with CCDC94           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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC94
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC94

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC94
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCDC94

    miRNA
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    miRTarBase miRNAs that target CCDC94:
    hsa-mir-484 (MIRT042212)

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    SwitchGear 3'UTR luciferase reporter plasmidCCDC94 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: CCDC94 (NM_018074)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC94
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC94

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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
    nucleus3
    cytosol2
    cytoskeleton1
    mitochondrion1

    (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 CCDC94
    Interactions:

        Search GeneGlobe Interaction Network for CCDC94

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CCDC94 (ENSP000002629624) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC5LENSP000003605324STRING: ENSP00000360532
    PRPF19ENSP000002275244STRING: ENSP00000227524
    PLRG1ENSP000003031914STRING: ENSP00000303191
    XAB2ENSP000003511374STRING: ENSP00000351137
    DHX38ENSP000002684824STRING: ENSP00000268482
    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 CCDC94 (CCD94)



    (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 CCDC94 gene: 
    NM_018074.4  

    Unigene Cluster for CCDC94:

    Coiled-coil domain containing 94
    Hs.21811  [show with all ESTs]
    Unigene Representative Sequence: BC019096
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262962(uc002lzv.4) ENST00000596496
    miRNA
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    GenScript: all cDNA clones in your preferred vector: CCDC94 (NM_018074)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC94
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC94
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC94
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC94
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC94
      QuantiFast Probe-based Assays in human, mouse, rat CCDC94

    Additional mRNA sequence: 

    AF091080.1 AK001236.1 AK023988.1 AK098628.1 BC000561.2 BC019096.2 

    7 DOTS entries:

    DT.311765  DT.95373241  DT.97842857  DT.100824632  DT.92429386  DT.95373242  DT.100707444 

    Selected AceView cDNA sequences (see all 164):

    BU857693 BX403583 AW303404 AW449993 BU956806 BQ772840 BC019096 CD365874 
    BM846716 CF528441 BF680064 AI949878 BI770930 BU957428 BM469753 BU621802 
    CK725068 BI756304 BU539307 BQ944120 BX098750 BP361964 BM698952 CR608825 

    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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    CCDC94 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGTGCTGG
    CCDC94 Expression
    About this image

    CCDC94 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC94 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21811
        Custom PCR Arrays for CCDC94
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC94
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC94

    (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 eukaryotes.

    Orthologs for CCDC94 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc941 , 5 coiled-coil domain containing 941, 5 82.38(n)1
    82.17(a)1
      17 (29.08 cM)5
    728861  NM_028381.31  NP_082657.11 
     559591875 
    chicken
    (Gallus gallus)
    Aves CCDC941 coiled-coil domain containing 94 75.84(n)
    76.66(a)
      425754  XM_423475.4  XP_423475.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC946
    coiled-coil domain containing 94
    72(a)
    1 ↔ 1
    GL344608.1(1027-11736)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.242722 Xenopus laevis transcribed sequence with moderate similarity more 74.73(n)    BU909883.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc559142 hypothetical protein MGC55914 82.67(n)   393117  BC044536.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84351 CG8435 70.64(n)
    72.16(a)
      36789  NM_137248.4  NP_611092.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F37C12.11 F37C12.1 47.45(n)
    43.97(a)
      176010  NM_066175.4  NP_498576.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YJU26
    Essential protein required for pre-mRNA splicing; ...
    26(a)
    1 → many
    XI(262277-263113) YKL095W
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.92632 Vitis vinifera transcribed sequence with moderate similarity more 72.57(n)    CF211245.1 
    rice
    (Oryza sativa)
    Liliopsida Os.245492 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.62(n)    AK066951.1 


    ENSEMBL Gene Tree for CCDC94 (if available)
    TreeFam Gene Tree for CCDC94 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC94 gene
    CCDC1302  
    1 SIMAP similar gene for CCDC94 using alignment to 2 protein entries:     CCD94_HUMAN (see all proteins):
    CCDC130

    Find genes that share paralogs with CCDC94           About GenesLikeMe



    (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 CCDC94 (see all 713)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910518871,2
    --4245179(+) TGGTTG/TGTCTT 1 -- us2k10--------
    rs1836934191,2
    --4245275(+) GAACTC/TCTGAC 1 -- us2k10--------
    rs1426544841,2
    --4245293(+) GATTCA/GCCCAC 1 -- us2k10--------
    rs1509895491,2
    --4245343(+) CCATGC/TCCGGT 1 -- us2k10--------
    rs1129438011,2
    F--4245345(+) ATGCCC/TGGTAT 1 -- us2k12Minor allele frequency- T:0.05CSA WA 120
    rs1395444871,2
    C--4245525(+) CGCCAA/CCACGC 1 -- us2k10--------
    rs6040101,2
    C--4245528(+) CACCAC/TGCCCG 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs1138277381,2
    C,F--4245584(+) CCATGT/GTGACC 1 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs1412239181,2
    C--4245587(+) TGGTGA/GCCAGG 1 -- us2k10--------
    rs780977251,2
    C--4245647(+) AAGTGC/TTGGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC94 (4247076 - 4269087 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CCDC94:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718000CNV Deletion23290073
    esv2718002CNV Deletion23290073
    esv2718001CNV Deletion23290073
    nsv833716CNV Loss17160897
    nsv833717CNV Loss17160897
    nsv910818CNV Loss21882294
    nsv833718CNV Loss17160897
    esv28436CNV Loss19812545
    nsv910817CNV Loss21882294
    nsv910820CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC94
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC94

    (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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      --

    (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 CCDC94 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC94)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 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, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (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: 55702 HGNC: 25518 AceView: FLJ10374 Ensembl:ENSG00000105248 euGenes: HUgn55702
    ECgene: CCDC94 H-InvDB: CCDC94

    (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 CCDC94 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 CCDC94 gene:
    Search GeneIP for patents involving CCDC94

    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, 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 inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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