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

Gene ID: 440193, updated on 26-Aug-2014
Official Symbol
CCDC88Cprovided by HGNC
Official Full Name
coiled-coil domain containing 88Cprovided by HGNC
Primary source
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]
See CCDC88C in Epigenomics, MapViewer
Location:
14q32.11
Exon count:
32
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (91271323..91417844, 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 chromosome 14 open reading frame 159 Neighboring gene small nucleolar RNA, H/ACA box 11B Neighboring gene uncharacterized LOC102724476 Neighboring gene G protein-coupled receptor 68 Neighboring gene SMEK homolog 1, suppressor of mek1 (Dictyostelium) Neighboring gene uncharacterized LOC101928957

Associated conditions

Description Tests
Hydrocephalus
MedGen: C0020255 OMIM: 236600 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • RNF mutants show enhanced WNT signaling and proliferation, organism-specific biosystem (from REACTOME)
    RNF mutants show enhanced WNT signaling and proliferation, organism-specific biosystemRNF43 and related protein ZNRF3 are E3 ubiquitin ligases that negatively regulate WNT signaling by downregulating FZD receptors at the cell surface (Mukai et al, 2010; Hao et al, 2012). Frameshift l...
  • 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 in cancer, organism-specific biosystem (from REACTOME)
    Signaling by WNT in cancer, organism-specific biosystemThe WNT signaling pathway has been linked with cancer ever since the identification of the first WNT as a gene activated by integration of mouse mammary tumor virus proviral DNA in virally-induced br...
  • 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 ...
  • XAV939 inhibits tankyrase, stabilizing AXIN, organism-specific biosystem (from REACTOME)
    XAV939 inhibits tankyrase, stabilizing AXIN, organism-specific biosystemXAV939 binds to the catalytic sites of tankyrase 1 and 2 and inhibits the ADP-ribosylation of AXIN1 and 2. Treatment of cells with XAV939 significantly increases the protein, but not the mRNA levels ...
  • misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling, organism-specific biosystem (from REACTOME)
    misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling, organism-specific biosystemLRP5 is subject to an in-frame missplicing event in breast and parathyroid cancers that renders the protein insensitive to inhibition by the WNT antagonist DKK1. Expression of the mutant protein res...
  • 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...
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 
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
 
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 
Preferred Names
protein Daple
Names
protein Daple
hook-related protein 2
spinocerebellar ataxia 40
Dvl-associating protein with a high frequency of leucine residues

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 

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

mRNA and Protein(s)

  1. NM_001080414.3NP_001073883.2  protein Daple

    See proteins identical to NP_001073883.2

    Status: REVIEWED

    Source sequence(s)
    AB040942, AK302839, AL133153, AL135818, AL137353, BX283171, DR006516
    Consensus CDS
    CCDS45151.1
    UniProtKB/TrEMBL
    B4DZB8
    UniProtKB/Swiss-Prot
    Q9P219
    Related
    ENSP00000374507, OTTHUMP00000245079, ENST00000389857, OTTHUMT00000411650
    Conserved Domains (3) summary
    pfam01576
    Location:4861308
    Blast Score: 201
    Myosin_tail_1; Myosin tail
    pfam05622
    Location:17564
    Blast Score: 331
    HOOK; HOOK protein
    cl19113
    Location:755935
    Blast Score: 107
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    91271323..91417844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267692.1XP_005267749.1  

    Conserved Domains (2) summary
    pfam06818
    Location:98285
    Blast Score: 106
    Fez1; Fez1
    cl19113
    Location:88218
    Blast Score: 97
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  2. XM_005267691.2XP_005267748.1  

    Conserved Domains (3) summary
    pfam09728
    Location:378639
    Blast Score: 91
    Taxilin; Myosin-like coiled-coil protein
    pfam10174
    Location:5821391
    Blast Score: 111
    Cast; RIM-binding protein of the cytomatrix active zone
    cl19113
    Location:755935
    Blast Score: 94
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RNA

  1. XR_429316.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    71913832..72060619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

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