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    CCDC88C coiled-coil domain containing 88C [ Homo sapiens (human) ]

    Gene ID: 440193, updated on 5-Nov-2017
    Official Symbol
    CCDC88Cprovided by HGNC
    Official Full Name
    coiled-coil domain containing 88Cprovided by HGNC
    Primary source
    HGNC:HGNC:19967
    See related
    Ensembl:ENSG00000015133 MIM:611204; Vega:OTTHUMG00000171099
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAPLE; HKRP2; SCA40; KIAA1509
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 9.5), spleen (RPKM 8.3) and 24 other tissues See more
    Orthologs
    Location:
    14q32.11-q32.12
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (91271323..91418498, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (91737667..91884188, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene D-glutamate cyclase Neighboring gene small nucleolar RNA, H/ACA box 11B Neighboring gene G protein-coupled receptor 68 Neighboring gene uncharacterized LOC107984673 Neighboring gene uncharacterized LOC105370624 Neighboring gene uncharacterized LOC105370625 Neighboring gene protein phosphatase 4 regulatory subunit 3A Neighboring gene uncharacterized LOC101928957

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hydrocephalus
    MedGen: C0020255 OMIM: 236600 GeneReviews: Not available
    Compare labs
    Spinocerebellar ataxia 40
    MedGen: CN219009 OMIM: 616053 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Negative regulation of TCF-dependent signaling by DVL-interacting proteins, organism-specific biosystem (from REACTOME)
      Negative regulation of TCF-dependent signaling by DVL-interacting proteins, organism-specific biosystemDVL is a central component of WNT signaling that plays roles in both canonical and non-canonical pathways (reviewed in Gao and Chen, 2010). In the canonical pathway, DVL recruits AXIN from the destr...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ00354, KIAA1509

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein self-association ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein destabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein homooligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    stress-activated protein kinase signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    protein Daple
    Names
    Dvl-associating protein with a high frequency of leucine residues
    hook-related protein 2
    spinocerebellar ataxia 40

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033118.1 RefSeqGene

      Range
      5001..151522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080414.3NP_001073883.2  protein Daple

      See identical proteins and their annotated locations for NP_001073883.2

      Status: REVIEWED

      Source sequence(s)
      AB040942, AK302839, AL133153, AL135818, AL137353, BX283171, DR006516
      Consensus CDS
      CCDS45151.1
      UniProtKB/Swiss-Prot
      Q9P219
      UniProtKB/TrEMBL
      B4DZB8
      Related
      ENSP00000374507.6, OTTHUMP00000245079, ENST00000389857.10, OTTHUMT00000411650
      Conserved Domains (4) summary
      pfam01576
      Location:3291319
      Myosin_tail_1; Myosin tail
      pfam05622
      Location:17633
      HOOK; HOOK protein
      cl23720
      Location:489601
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      cl24005
      Location:664741
      DUF2570; Protein of unknown function (DUF2570)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      91271323..91418498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536796.2XP_011535098.1  protein Daple isoform X1

      Conserved Domains (3) summary
      pfam01576
      Location:2931283
      Myosin_tail_1; Myosin tail
      cl23720
      Location:453565
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      cl24005
      Location:628705
      DUF2570; Protein of unknown function (DUF2570)
    2. XM_017021336.1XP_016876825.1  protein Daple isoform X4

    3. XM_017021335.1XP_016876824.1  protein Daple isoform X2

    4. XM_005267691.4XP_005267748.1  protein Daple isoform X3

      Conserved Domains (2) summary
      pfam01576
      Location:3291319
      Myosin_tail_1; Myosin tail
      pfam05622
      Location:17564
      HOOK; HOOK protein
    5. XM_017021337.1XP_016876826.1  protein Daple isoform X5

    RNA

    1. XR_429316.3 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      91675205..91822288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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