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

CCDC114 Gene

protein-coding   GIFtS: 46
GCID: GC19M048799

Coiled-Coil Domain Containing 114

  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 1141 2
CILD202
Coiled-Coil Domain-Containing Protein 1142

External Ids:    HGNC: 265601   Entrez Gene: 932332   Ensembl: ENSG000001054797   OMIM: 6150385   UniProtKB: Q96M633   

Export aliases for CCDC114 gene to outside databases

Previous GC identifers: GC19M053492 GC19M045180


(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 CCDC114 Gene:
This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking
complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. (provided by RefSeq, May
2013)

GeneCards Summary for CCDC114 Gene: 
CCDC114 (coiled-coil domain containing 114) is a protein-coding gene. Diseases associated with CCDC114 include primary ciliary dyskinesia, and kartagener syndrome. An important paralog of this gene is CCDC63.

UniProtKB/Swiss-Prot: CC114_HUMAN, Q96M63
Function: Probable component of the outer dynein arm complex required along the entire axoneme for tethering of
outer dynein arms (Probable)




(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  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC114 gene promoter:
         COUP-TF1   STAT1   Bach2   RelA   HNF-4alpha1   E47   AREB6   RORalpha1   HEN1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC114 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC114

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC114


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

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

CCDC114 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC114 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M048799:  view genomic region     (about GC identifiers)

Start:
48,799,709 bp from pter      End:
48,825,130 bp from pter
Size:
25,422 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: CC114_HUMAN, Q96M63 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 114  
Size: 670 amino acids; 75046 Da
Subcellular location: Cell projection, cilium
Caution: Although the CILD20 variant corresponding to dbSNP:rs147718607 could create a Ala to Thr substitution at
position 248, the variation causes an intronic insertion, resulting in a frameshift and premature truncation. It
should therefore not be considered as a single amino acid polymorphism (SAP) (PubMed:23261303)
Sequence caution: Sequence=BAB71448.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice
sites; Sequence=BAC87296.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
Secondary accessions: Q6ZRL4 Q96M06 Q9UFG8
Alternative splicing: 3 isoforms:  Q96M63-1   Q96M63-4   Q96M63-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC114: NX_Q96M63

Explore proteomics data for CCDC114 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96M63

  • CCDC114 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC114 Protein Expression
    REFSEQ proteins: NP_653178.3  
    ENSEMBL proteins: 
     ENSP00000318429  

    Human Recombinant Protein Products for CCDC114: 
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    Cloud-Clone Corp. Proteins for CCDC114 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IDA--
    GO:0036157outer dynein arm IMP--

    CCDC114 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

    ProtoNet protein and cluster: Q96M63

    UniProtKB/Swiss-Prot: CC114_HUMAN, Q96M63
    Similarity: Belongs to the ODA1/DCC2 family


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CC114_HUMAN, Q96M63
    Function: Probable component of the outer dynein arm complex required along the entire axoneme for tethering of
    outer dynein arms (Probable)

    Animal Models:

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC114


    (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 CCDC114

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0036158outer dynein arm assembly IMP--

    CCDC114 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 CCDC114 (CC114)

    Search CenterWatch for drugs/clinical trials and news about CCDC114 / CC114

    (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 CCDC114 gene (3 alternative transcripts): 
    NM_144577.3  NM_001135193.1  NM_001135194.1  

    Unigene Cluster for CCDC114:

    Coiled-coil domain containing 114
    Hs.112645  [show with all ESTs]
    Unigene Representative Sequence: BC007730
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315396(uc002piq.2 uc002pir.2) ENST00000474199(uc002pio.3 uc002pit.1 uc002piu.1)
    ENST00000497273(uc002pis.1) ENST00000497803 ENST00000483610
    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CCDC114
    SwitchGear 3'UTR luciferase reporter plasmidCCDC114 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CCDC114
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC114
    Clone
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    OriGene clones in human, mouse for CCDC114 (see all 11)
    OriGene ORF clones in mouse, rat for CCDC114
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    GenScript: all cDNA clones in your preferred vector: CCDC114 (NM_144577)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC114
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC114
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                         Customized lentivirus expression plasmids for stable overexpression of CCDC114 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC114
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC114

    Additional mRNA sequence: 

    AK057488.1 BC007730.2 

    7 DOTS entries:

    DT.95158637  DT.101980943  DT.65284543  DT.95309182  DT.121454765  DT.40121903  DT.121454761 

    18 AceView cDNA sequences:

    BC031619 AK057488 AK128144 NM_144577 CA440066 AL122083 CD243987 BC025752 
    AI669605 BI831110 BM926487 AI801593 BG772128 AK057357 BC007730 BI766244 
    BF686049 BF852637 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC114 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^
    SP1:                                                                                      -     -                                         -                 -   
    SP2:                                                  -                                   -     -                                         -                 -   
    SP3:                                      -           -                                   -     -                                                               
    SP4:                                      -           -                                                                                                         
    SP5:                    -                             -                                                                                                         

    ExUns: 17 ^ 18 ^ 19 ^ 20
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for CCDC114

    (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

    CCDC114 expression in normal human tissues (normalized intensities)      CCDC114 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC114 Expression
    About this image


    CCDC114 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata

    See CCDC114 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC114

    SOURCE GeneReport for Unigene cluster: Hs.112645
        SABiosciences Custom PCR Arrays for CCDC114
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC114

    (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 animals.

    Orthologs for CCDC114 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1141 , 5 coiled-coil domain containing 1141, 5 73.27(n)1
    65.13(a)1
      7 (29.60 cM)5
    2115351  NM_001033243.21  NP_001028415.11 
     459240725 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1146
    coiled-coil domain containing 114
    23(a)
    1 ↔ 1
    GL343329.1(213732-256627)
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC1146
    coiled-coil domain containing 114
    25(a)
    1 ↔ 1
    11(42189798-42204454)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG149056
    CG170836
    --
    21(a)
    17(a)
    many ↔ many
    many ↔ many
    3R(12448457-12450439)
    3R(19111815-19113773)


    ENSEMBL Gene Tree for CCDC114 (if available)
    TreeFam Gene Tree for CCDC114 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCDC114 gene
    CCDC632  

    CCDC114 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) 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

    10/713 SNPs in CCDC114 are shown (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
    ----------
    rs1907363211,2
    --48799386(+) AACATC/GGTGAA 1 -- int10--------
    rs1815123711,2
    --48799432(+) GCGTGC/GTAGTG 1 -- int10--------
    rs1845917581,2
    --48799469(+) AGGCTA/GAGGCA 1 -- int10--------
    rs1389158561,2
    C--48799568(+) ATCTC-/AATA  
            
    AATAA
    1 -- int10--------
    rs45725151,2
    C,F--48799605(+) AAGAAC/TGCTGA 1 -- int16Minor allele frequency- T:0.36NA WA CSA EA 363
    rs776904841,2
    C,F--48799621(+) TGAGTG/AAATGA 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1154781591,2
    F--48799640(+) ATGAAT/CGAATG 1 -- int11Minor allele frequency- C:0.08WA 118
    rs22921121,2
    C,F,H--48799716(+) AAGCCG/AGCTCT 1 -- ut3122Minor allele frequency- A:0.45EA NS NA WA CSA 3838
    rs1885130421,2
    --48799726(+) TCCACA/CCATAT 1 -- ut310--------
    rs1812843271,2
    --48799778(+) GTCTTC/TGCCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC114 (48799709 - 48825130 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CCDC114:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833854CNV Loss17160897
    esv34181CNV Loss18971310
    nsv9739CNV Gain+Loss18304495
    nsv469623CNV Complex16826518


    Human Gene Mutation Database (HGMD): CCDC114
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC114
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC114

    (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: 615038    OMIM disorders: --

    UniProtKB/Swiss-Prot: CC114_HUMAN, Q96M63
  • Primary ciliary dyskinesia 20 (CILD20) [MIM:615067]: A disorder characterized by abnormalities of motile
    cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in
    the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to
    dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is
    referred to as Kartagener syndrome. Unlike other forms of CILD characterized by reduced fertility, patients with
    CILD20 do not appear to be infertile. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 5 diseases for CCDC114:    About MalaCards
    primary ciliary dyskinesia    kartagener syndrome    situs inversus    bronchiectasis
    infertility

    1 disease from the University of Copenhagen DISEASES database for CCDC114:
    Primary ciliary dyskinesia

    CCDC114 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC114
    Human Genome Epidemiology (HuGE) Navigator: CCDC114 (3 documents)

    Export disorders for CCDC114 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 CCDC114 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with CCDC114)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Splice-Site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. (PubMed id 23261303)1, 2, 3 Onoufriadis A.... Mitchison H.M. (2013)
    2. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. (PubMed id 23261302)1, 2, 3 Knowles M.R.... Zariwala M.A. (2013)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Loss-of-function mutations in CCDC114 cause primary ci liary dyskinesia. (PubMed id 23506398)1 Wu D.H. and Singaraja R.R. (2013)
    6. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. 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. (2004)
    10. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 93233 HGNC: 26560 AceView: FLJ32926 Ensembl:ENSG00000105479 euGenes: HUgn93233
    ECgene: CCDC114 H-InvDB: CCDC114

    (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 CCDC114 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 CCDC114 gene:
    Search GeneIP for patents involving CCDC114

    GeneCards and IP:
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