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

    Gene ID: 440193, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:19967
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC88C in Genome Data Viewer
    Location:
    14q32.11-q32.12
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (91271323..91417820, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (85496797..85643060, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (91737667..91884164, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene D-glutamate cyclase Neighboring gene Sharpr-MPRA regulatory region 15407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8894 Neighboring gene small nucleolar RNA, H/ACA box 11B Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91619068-91619346 Neighboring gene Sharpr-MPRA regulatory region 3148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91710745-91711246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91719939-91720470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91720471-91721002 Neighboring gene CRISPRi-validated cis-regulatory element chr14.1904 Neighboring gene Sharpr-MPRA regulatory region 4292 Neighboring gene CRISPRi-validated cis-regulatory element chr14.1906 Neighboring gene G protein-coupled receptor 68 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91749514-91749720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6023 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91771631-91772466 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91772467-91773300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91818809-91819780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91821242-91821752 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91826469-91826970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91826971-91827470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8910 Neighboring gene uncharacterized LOC107984673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91838097-91838709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8911 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:91841845-91842517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91843867-91844540 Neighboring gene uncharacterized LOC105370624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6025 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91848585-91849375 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91849376-91850165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91853480-91854308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91854309-91855135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91864835-91865466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91866728-91867357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91884645-91885289 Neighboring gene COX assembly mitochondrial protein homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8921 Neighboring gene CCDC88C divergent transcript Neighboring gene uncharacterized LOC124903361

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hydrocephalus, nonsyndromic, autosomal recessive 1
    MedGen: C3887608 OMIM: 236600 GeneReviews: Not available
    not available
    Spinocerebellar ataxia type 40
    MedGen: C4518336 OMIM: 616053 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ00354, KIAA1509

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein alpha-subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables PDZ domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables frizzled binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical junction complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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_033118.2 RefSeqGene

      Range
      5025..151522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080414.4NP_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
      Q69YK1, Q7L1M2, Q86SX7, Q8IYG8, Q9P219
      Related
      ENSP00000374507.6, ENST00000389857.11
      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)

    RNA

    1. NR_189158.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133153, AL135818
    2. NR_189159.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133153, AL135818

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      91271323..91417820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536796.3XP_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_047431418.1XP_047287374.1  protein Daple isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      85496797..85643060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376141.1XP_054232116.1  protein Daple isoform X1

    2. XM_054376142.1XP_054232117.1  protein Daple isoform X2