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

Gene ID: 440193, updated on 5-Aug-2018

Summary

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
HYC1; 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

Genomic context

See CCDC88C in Genome Data Viewer
Location:
14q32.11-q32.12
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 COX assembly mitochondrial protein homolog pseudogene Neighboring gene protein phosphatase 4 regulatory subunit 3A

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hydrocephalus
MedGen: C0020255 OMIM: 236600 GeneReviews: Not available
Compare labs
Spinocerebellar ataxia 40
MedGen: CN252333 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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
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
 
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein Daple
Names
Dvl-associating protein with a high frequency of leucine residues
hook-related protein 2
spinocerebellar ataxia 40

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    91271323..91417844 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_017021335.2XP_016876824.1  protein Daple isoform X2

  4. XM_005267691.5XP_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_017021337.2XP_016876826.1  protein Daple isoform X5

RNA

  1. XR_429316.4 RNA Sequence

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