Human Gene CCDC88C (ENST00000389857.11_7) from GENCODE V47lift37
  Description: coiled-coil domain containing 88C (from RefSeq NM_001080414.4)
Gencode Transcript: ENST00000389857.11_7
Gencode Gene: ENSG00000015133.20_10
Transcript (Including UTRs)
   Position: hg19 chr14:91,737,667-91,884,164 Size: 146,498 Total Exon Count: 30 Strand: -
Coding Region
   Position: hg19 chr14:91,738,969-91,884,034 Size: 145,066 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:91,737,667-91,884,164)mRNA (may differ from genome)Protein (2028 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DAPLE_HUMAN
DESCRIPTION: RecName: Full=Protein Daple; AltName: Full=Coiled-coil domain-containing protein 88C; AltName: Full=Dvl-associating protein with a high frequency of leucine residues; Short=hDaple; AltName: Full=Hook-related protein 2; Short=HkRP2;
FUNCTION: Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity).
SUBUNIT: Homooligomer. Interacts with the PDZ domain of DVL1 (By similarity).
SIMILARITY: Belongs to the CCDC88 family.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CCDC88C
Diseases sorted by gene-association score: spinocerebellar ataxia 40* (1639), hydrocephalus, nonsyndromic, autosomal recessive* (900), congenital non-communicating hydrocephalus* (350), hydrocephalus* (313), nonsyndromic hydrocephalus, ccdc88c-related* (100), congenital hydrocephalus (20)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.02 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 168.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -77.60130-0.597 Picture PostScript Text
3' UTR -446.201302-0.343 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008636 - HOOK

Pfam Domains:
PF19047 - HOOK domain

SCOP Domains:
116907 - Hook domain

ModBase Predicted Comparative 3D Structure on Q9P219
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008017 microtubule binding
GO:0030165 PDZ domain binding
GO:0043621 protein self-association
GO:0051959 dynein light intermediate chain binding

Biological Process:
GO:0001932 regulation of protein phosphorylation
GO:0016055 Wnt signaling pathway
GO:0030705 cytoskeleton-dependent intracellular transport
GO:0031098 stress-activated protein kinase signaling cascade
GO:0031122 cytoplasmic microtubule organization
GO:0031648 protein destabilization
GO:0051260 protein homooligomerization

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome


-  Descriptions from all associated GenBank mRNAs
  AB040942 - Homo sapiens mRNA for KIAA1509 protein, partial cds.
JF432383 - Synthetic construct Homo sapiens clone IMAGE:100073583 coiled-coil domain containing 88C (CCDC88C) gene, encodes complete protein.
KJ904293 - Synthetic construct Homo sapiens clone ccsbBroadEn_13687 CCDC88C gene, encodes complete protein.
CU690226 - Synthetic construct Homo sapiens gateway clone IMAGE:100021182 5' read CCDC88C mRNA.
AK302839 - Homo sapiens cDNA FLJ59076 complete cds, highly similar to Mus musculus coiled-coil domain containing 88C (Ccdc88c), mRNA.
BC032316 - Homo sapiens coiled-coil domain containing 88C, mRNA (cDNA clone IMAGE:5219499), complete cds.
LP895305 - Sequence 169 from Patent EP3253886.
AF070587 - Homo sapiens clone 24741 mRNA sequence.
AL137353 - Homo sapiens mRNA; cDNA DKFZp434G0825 (from clone DKFZp434G0825).
AL833046 - Homo sapiens mRNA; cDNA DKFZp666F109 (from clone DKFZp666F109).
BC028565 - Homo sapiens coiled-coil domain containing 88C, mRNA (cDNA clone IMAGE:3634458), partial cds.
AK022593 - Homo sapiens cDNA FLJ12531 fis, clone NT2RM4000199.
DQ579264 - Homo sapiens piRNA piR-47376, complete sequence.
JD171740 - Sequence 152764 from Patent EP1572962.
JD350086 - Sequence 331110 from Patent EP1572962.
JD056127 - Sequence 37151 from Patent EP1572962.
DQ591626 - Homo sapiens piRNA piR-58738, complete sequence.
JD372402 - Sequence 353426 from Patent EP1572962.
JD098503 - Sequence 79527 from Patent EP1572962.
JD278678 - Sequence 259702 from Patent EP1572962.
JD264207 - Sequence 245231 from Patent EP1572962.
JD069680 - Sequence 50704 from Patent EP1572962.
JD483245 - Sequence 464269 from Patent EP1572962.
JD495807 - Sequence 476831 from Patent EP1572962.
JD400814 - Sequence 381838 from Patent EP1572962.
JD488080 - Sequence 469104 from Patent EP1572962.
JD330270 - Sequence 311294 from Patent EP1572962.
JD038343 - Sequence 19367 from Patent EP1572962.
JD490892 - Sequence 471916 from Patent EP1572962.
JD464901 - Sequence 445925 from Patent EP1572962.
DQ590576 - Homo sapiens piRNA piR-57688, complete sequence.
JD228624 - Sequence 209648 from Patent EP1572962.
BX248302 - human full-length cDNA clone CS0DL007YB06 of B cells (Ramos cell line) of Homo sapiens (human).
LF209627 - JP 2014500723-A/17130: Polycomb-Associated Non-Coding RNAs.
DQ590284 - Homo sapiens piRNA piR-57396, complete sequence.
DQ582540 - Homo sapiens piRNA piR-32652, complete sequence.
LF330220 - JP 2014500723-A/137723: Polycomb-Associated Non-Coding RNAs.
LF330221 - JP 2014500723-A/137724: Polycomb-Associated Non-Coding RNAs.
JD338806 - Sequence 319830 from Patent EP1572962.
LF330222 - JP 2014500723-A/137725: Polycomb-Associated Non-Coding RNAs.
JD019324 - Sequence 348 from Patent EP1572962.
MA565797 - JP 2018138019-A/137723: Polycomb-Associated Non-Coding RNAs.
MA565798 - JP 2018138019-A/137724: Polycomb-Associated Non-Coding RNAs.
MA565799 - JP 2018138019-A/137725: Polycomb-Associated Non-Coding RNAs.
MA445204 - JP 2018138019-A/17130: Polycomb-Associated Non-Coding RNAs.
JD027217 - Sequence 8241 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9P219 (Reactome details) participates in the following event(s):

R-HSA-5368588 DVL binds CCDC88C
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: DAPLE, DAPLE_HUMAN, ENST00000389857.1, ENST00000389857.10, ENST00000389857.2, ENST00000389857.3, ENST00000389857.4, ENST00000389857.5, ENST00000389857.6, ENST00000389857.7, ENST00000389857.8, ENST00000389857.9, KIAA1509 , NM_001080414, Q69YK1, Q7L1M2, Q86SX7, Q8IYG8, Q9P219, uc318tip.1, uc318tip.2
UCSC ID: ENST00000389857.11_7
RefSeq Accession: NM_001080414.4
Protein: Q9P219 (aka DAPLE_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CCDC88C:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.