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CCDC88C Gene

protein-coding   GIFtS: 49
GCID: GC14M091737

Coiled-Coil Domain Containing 88C

(Previous name: KIAA1509)
(Previous symbol: KIAA1509)
  See CCDC88C-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)
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Aliases
Coiled-Coil Domain Containing 88C1 2     Protein Daple2
KIAA15091 2 3 5     HkRP23
Dvl-Associating Protein With A High Frequency Of Leucine Residues1 2 3     Coiled-Coil Domain-Containing Protein 88C3
DAPLE2 3 5     hDaple3
Hook-Related Protein 22 3     HYC5
HKRP22 5     

External Ids:    HGNC: 199671   Entrez Gene: 4401932   Ensembl: ENSG000000151337   OMIM: 6112045   UniProtKB: Q9P2193   

Export aliases for CCDC88C gene to outside databases

Previous GC identifers: GC14M090809 GC14M071913


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CCDC88C Gene:
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the
dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene
has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein.
Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling
pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations
in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized
by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. (provided by RefSeq, Jan 2013)

GeneCards Summary for CCDC88C Gene:
CCDC88C (coiled-coil domain containing 88C) is a protein-coding gene. Diseases associated with CCDC88C include hydrocephalus, and congenital non-communicating hydrocephalus. GO annotations related to this gene include PDZ domain binding and protein self-association. An important paralog of this gene is HOOK2.

UniProtKB/Swiss-Prot: DAPLE_HUMAN, Q9P219
Function: Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit
CTNNB1/Beta-catenin stabilization (By similarity)




(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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC88C gene promoter:
         Sox5   AML1a   ATF-2   MyoD   Ik-3   PPAR-gamma1   FOXO1a   PPAR-gamma2   ATF6   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC88C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC88C


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

Entrez Gene cytogenetic band: 14q32.11   Ensembl cytogenetic band:  14q32.11   HGNC cytogenetic band: 14q32.12

CCDC88C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC88C gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M091737:  view genomic region     (about GC identifiers)

Start:
91,737,667 bp from pter      End:
91,884,188 bp from pter
Size:
146,522 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, 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: DAPLE_HUMAN, Q9P219 (See protein sequence)
Recommended Name: Protein Daple  
Size: 2028 amino acids; 228230 Da
Subunit: Homooligomer. Interacts with the PDZ domain of DVL1 (By similarity)
Sequence caution: Sequence=BAA96033.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part; Sequence=CAH10602.1; Type=Frameshift; Positions=1738;
Secondary accessions: Q69YK1 Q7L1M2 Q86SX7 Q8IYG8
Alternative splicing: 3 isoforms:  Q9P219-1   Q9P219-2   Q9P219-3   (Due to intron retention. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC88C: NX_Q9P219

Explore proteomics data for CCDC88C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC88C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073883.2  
    ENSEMBL proteins: 
     ENSP00000452406   ENSP00000374507   ENSP00000374506   ENSP00000451392   ENSP00000330332  

    CCDC88C Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for CCDC88C
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CCDC88C

     
    Search eBioscience for Proteins for CCDC88C 

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    CCDC88C Assay Products:

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    Search eBioscience for ELISAs for CCDC88C 


    (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:
     IPR027719 Daple
     IPR008636 Hook-related_fam

    Graphical View of Domain Structure for InterPro Entry Q9P219

    ProtoNet protein and cluster: Q9P219

    UniProtKB/Swiss-Prot: DAPLE_HUMAN, Q9P219
    Similarity: Belongs to the CCDC88 family


    Find genes that share domains with CCDC88C           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DAPLE_HUMAN, Q9P219
    Function: Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit
    CTNNB1/Beta-catenin stabilization (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0016491oxidoreductase activity ----
    GO:0030165PDZ domain binding ISS14750955
    GO:0043621protein self-association ISS14750955
         
    Find genes that share ontologies with CCDC88C           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Ccdc88c (no phenotypes)

    Find genes that share phenotypes with CCDC88C           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC88C
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC88C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC88C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCDC88C

    miRNA
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    miRTarBase miRNAs that target CCDC88C:
    hsa-mir-20a-5p (MIRT050556), hsa-mir-23b-3p (MIRT023465), hsa-mir-93-5p (MIRT048817), hsa-mir-335-5p (MIRT017297), hsa-mir-1 (MIRT023565)

    Block miRNA regulation of human, mouse, rat CCDC88C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCDC88C (see all 21):
    hsa-miR-15a hsa-miR-1271 hsa-miR-128 hsa-miR-520a-5p hsa-miR-424 hsa-miR-199b-5p hsa-miR-3143 hsa-miR-3121-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC88C

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    GenScript: all cDNA clones in your preferred vector: CCDC88C (NM_001080414)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC88C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC88C

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC88C


    (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

    (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 CCDC88C
    Interactions:

        Search GeneGlobe Interaction Network for CCDC88C

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

    5 Interacting proteins for CCDC88C (Q9P2192, 3 ENSP000003745074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK8P459832, 3, ENSP000003534834MINT-8262286 I2D: score=2 STRING: ENSP00000353483
    DVL1O146403, ENSP000003681694I2D: score=1 STRING: ENSP00000368169
    ITSN2ENSP000003472444STRING: ENSP00000347244
    GPKOWENSP000001561094STRING: ENSP00000156109
    GIT2ENSP000003474644STRING: ENSP00000347464
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001932regulation of protein phosphorylation ISS14750955
    GO:0016055Wnt signaling pathway IEA--
    GO:0031648protein destabilization ISS14750955
    GO:0051260protein homooligomerization ISS14750955
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with CCDC88C           About GenesLikeMe



    (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 CCDC88C (DAPLE)



    (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 CCDC88C gene: 
    NM_001080414.3  

    Unigene Cluster for CCDC88C:

    Coiled-coil domain containing 88C
    Hs.525536  [show with all ESTs]
    Unigene Representative Sequence: NM_001080414
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556726(uc001xzi.3 uc001xzj.3) ENST00000389857(uc010aty.3)
    ENST00000334448 ENST00000557455 ENST00000555995 ENST00000557507 ENST00000554051
    ENST00000554872(uc010twk.1) ENST00000553437 ENST00000389856(uc021ryl.1)
    ENST00000553403(uc001xzl.4) ENST00000554165 ENST00000556767 ENST00000331194

    miRNA
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    Block miRNA regulation of human, mouse, rat CCDC88C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCDC88C (see all 21):
    hsa-miR-15a hsa-miR-1271 hsa-miR-128 hsa-miR-520a-5p hsa-miR-424 hsa-miR-199b-5p hsa-miR-3143 hsa-miR-3121-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC88C
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    OriGene clones in human, mouse for CCDC88C (see all 6)
    OriGene ORF clones in mouse, rat for CCDC88C
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CCDC88C (NM_001080414)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC88C
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC88C
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC88C
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC88C
      QuantiFast Probe-based Assays in human, mouse, rat CCDC88C

    Additional mRNA sequence: 

    AF070587.1 AK022593.1 AK302839.1 AL137353.1 AL833046.1 BC028565.2 BC032316.1 BC035914.1 
    BC127900.1 BX248302.1 

    Selected DOTS entries (see all 28):

    DT.100813801  DT.70105186  DT.95306960  DT.91663408  DT.100035841  DT.70105506  DT.95369555  DT.100698924 
    DT.101973783  DT.120790477  DT.95320301  DT.120790454  DT.432982  DT.120790459  DT.95208652  DT.95370610 
    DT.97842695  DT.100045864  DT.121178639  DT.121178670  DT.121178687  DT.40120584  DT.40292868  DT.91781259 

    Selected AceView cDNA sequences (see all 47):

    BM754793 BM770056 BF475370 AI686509 BM770751 BX103204 BM770156 BF002813 
    BE673405 AA113276 BM760124 BM760140 BM771134 CR607628 BM740067 CR606047 
    BQ058180 BM771792 AI670941 BM739910 BM754799 BI910651 AA431981 BM754749 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CCDC88C (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
    SP1:                                                                                            -     -     -     -     -                 -     -               
    SP2:                                                                                                                    -                 -     -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                            -                       -                                       

    ExUns: 18a · 18b · 18c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for CCDC88C

    (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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    CCDC88C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAATATGT
    CCDC88C Expression
    About this image

    CCDC88C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC88C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525536
        Custom PCR Arrays for CCDC88C
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC88C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC88C

    (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 animals.

    Orthologs for CCDC88C gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc88c1 , 5 coiled-coil domain containing 88C1, 5 84(n)1
    82.97(a)1
      12 (51.11 cM)5
    683391  NM_026681.41  NP_080957.21 
     1009127005 
    chicken
    (Gallus gallus)
    Aves CCDC88C1 coiled-coil domain containing 88C 68.65(n)
    69.1(a)
      423410  XM_421320.4  XP_421320.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC88C6
    coiled-coil domain containing 88C
    65(a)
    1 ↔ 1
    1(12032305-12167448)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004852601 daple-like protein-like 61.83(n)
    58.88(a)
      100485260  XM_002933201.2  XP_002933247.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5532311 uncharacterized LOC553231 60.04(n)
    55.82(a)
      553231  XM_001921892.3  XP_001921927.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Girdin6
    Girdin
    30(a)
    1 → many
    3L(3178930-3185287)
    worm
    (Caenorhabditis elegans)
    Secernentea grdn-16
    Protein Y51A2D.15, isoform a (Y51A2D.15) mRNA, com...
    24(a)
    1 → many
    V(18592757-18613944) WBGene00013082


    ENSEMBL Gene Tree for CCDC88C (if available)
    TreeFam Gene Tree for CCDC88C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC88C gene
    HOOK22  HOOK12  CCDC88A2  HOOK32  CCDC88B2  
    2 SIMAP similar genes for CCDC88C using alignment to 4 protein entries:     DAPLE_HUMAN (see all proteins):
    CCDC88A    KIAA1212

    Find genes that share paralogs with CCDC88C           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 CCDC88C (see all 3541)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497257381,2
    C--71913462(+) TGCAGA/GGGGAG 1 -- int10--------
    rs80161591,2
    C--71913507(+) aggggC/Tgcaga 1 -- int10--------
    rs1810206111,2
    C--71913585(+) AGGGGC/TGCAGA 1 -- int10--------
    rs714154401,2
    C,F--71913618(+) GGGGCA/GCAGGG 1 -- int11Minor allele frequency- G:0.00NA 2
    rs1894671321,2
    --71913636(+) GGGGCA/GCAGGG 1 -- int10--------
    rs2017260791,2
    --71998548(+) GGGGG-/TTAA  
            
    GTGAG
    1 -- int10--------
    rs351105231,2
    C--71998549(+) GGGGTTAAG/-  
            
    TGAGA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs564050051,2
    C--71998550(+) GGGTT-/AAGT  
            
    GAGAC
    1 -- int10--------
    rs2002218541,2
    --72002044(+) GCAAG-/CTCCGC
            
    CTCCG
    1 -- cds10--------
    rs2016657731,2
    --72002049(+) CTCCG-/CCTCCC
            
    GGCCA
    1 -- cds10--------

    HapMap Linkage Disequilibrium report for CCDC88C (91737667 - 91884188 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC88C (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749016CNV Deletion23290073
    esv2749015CNV Deletion23290073
    esv272545CNV Insertion20981092
    esv1637561CNV Insertion17803354
    esv1730768CNV Insertion17803354
    nsv1395CNV Insertion18451855
    esv25253CNV Loss19812545
    nsv456394CNV Loss19166990
    nsv456393CNV Loss19166990
    nsv517700CNV Loss19592680

    Human Gene Mutation Database (HGMD): CCDC88C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC88C
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC88C

    (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

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    OMIM gene information: 611204   
    OMIM disorders: 236600  
    UniProtKB/Swiss-Prot: DAPLE_HUMAN, Q9P219
  • Hydrocephalus, non-syndromic, autosomal recessive 1 (HYC1) [MIM:236600]: A disease characterized by a
    disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which
    results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic
    impairment. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for CCDC88C:    
    About MalaCards
    hydrocephalus    congenital non-communicating hydrocephalus    nonsyndromic hydrocephalus, ccdc88c-related


    Find genes that share disorders with CCDC88C           About GenesLikeMe

    Genetic Association Database (GAD): CCDC88C

    Export disorders for CCDC88C 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

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    PubMed articles for CCDC88C gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with CCDC88C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two novel CCDC>88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. (PubMed id 23042809)1, 2 Drielsma A.... Edvardson S. (J. Med. Genet. 2012)
    2. Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. (PubMed id 21031079)1, 2 Ekici A.B.... Rauch A. (Mol. Syndromol. 2010)
    3. Girdin, a novel actin-binding protein, and its family of proteins possess versatile functions in the Akt and Wnt signaling pathways. (PubMed id 17185515)1, 3 Enomoto A.... Takahashi M. (Ann. N. Y. Acad. Sci. 2006)
    4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    5. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (Nat. Genet. 2013)
    6. Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation. (PubMed id 23184937)1 Xie Y....Cong F. (J. Biol. Chem. 2013)
    7. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    8. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    9. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (PLoS ONE 2012)
    10. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)

    (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)
    About This Section

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    Entrez Gene: 440193 HGNC: 19967 AceView: LOC440193 Ensembl:ENSG00000015133 euGenes: HUgn440193
    ECgene: CCDC88C H-InvDB: CCDC88C

    (According to HUGE)
    About This Section

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    HUGE: KIAA1509

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CCDC88C Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for CCDC88C gene:
    Search GeneIP for patents involving CCDC88C

    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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