Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCDC88C Gene

Aliases for CCDC88C Gene

  • Coiled-Coil Domain Containing 88C 2 3
  • Dvl-Associating Protein With A High Frequency Of Leucine Residues 2 3 4
  • KIAA1509 2 3 4
  • Spinocerebellar Ataxia 40 2 3
  • Hook-Related Protein 2 3 4
  • HKRP2 3 4
  • DAPLE 3 4
  • Coiled-Coil Domain-Containing Protein 88C 4
  • HDaple 4
  • SCA40 3

External Ids for CCDC88C Gene

Previous HGNC Symbols for CCDC88C Gene

  • KIAA1509

Previous GeneCards Identifiers for CCDC88C Gene

  • GC14M090809
  • GC14M091737
  • GC14M071913

Summaries for CCDC88C Gene

Entrez Gene Summary for CCDC88C Gene

  • 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]

GeneCards Summary for CCDC88C Gene

CCDC88C (Coiled-Coil Domain Containing 88C) is a Protein Coding gene. Diseases associated with CCDC88C include congenital hydrocephalus and congenital non-communicating hydrocephalus. Among its related pathways are Signaling by GPCR and Signaling by Wnt. GO annotations related to this gene include oxidoreductase activity and protein self-association. An important paralog of this gene is CCDC88A.

UniProtKB/Swiss-Prot for CCDC88C Gene

  • Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway (PubMed:25062847).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC88C Gene

Genomics for CCDC88C Gene

Regulatory Elements for CCDC88C Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CCDC88C Gene

Chromosome:
14
Start:
91,271,323 bp from pter
End:
91,417,844 bp from pter
Size:
146,522 bases
Orientation:
Minus strand

Genomic View for CCDC88C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC88C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC88C Gene

Proteins for CCDC88C Gene

  • Protein details for CCDC88C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P219-DAPLE_HUMAN
    Recommended name:
    Protein Daple
    Protein Accession:
    Q9P219
    Secondary Accessions:
    • Q69YK1
    • Q7L1M2
    • Q86SX7
    • Q8IYG8

    Protein attributes for CCDC88C Gene

    Size:
    2028 amino acids
    Molecular mass:
    228230 Da
    Quaternary structure:
    • Homooligomer. Interacts with the PDZ domain of DVL1 (By similarity).
    SequenceCaution:
    • Sequence=BAA96033.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=CAH10602.1; Type=Frameshift; Positions=1738; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC88C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC88C Gene

Proteomics data for CCDC88C Gene at MOPED

Post-translational modifications for CCDC88C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC88C Gene

No data available for DME Specific Peptides for CCDC88C Gene

Domains & Families for CCDC88C Gene

Protein Domains for CCDC88C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC88C Gene

Graphical View of Domain Structure for InterPro Entry

Q9P219

UniProtKB/Swiss-Prot:

DAPLE_HUMAN :
  • Belongs to the CCDC88 family.
Family:
  • Belongs to the CCDC88 family.
genes like me logo Genes that share domains with CCDC88C: view

No data available for Gene Families for CCDC88C Gene

Function for CCDC88C Gene

Molecular function for CCDC88C Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway (PubMed:25062847).

Gene Ontology (GO) - Molecular Function for CCDC88C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0030165 PDZ domain binding ISS 14750955
GO:0043621 protein self-association ISS 14750955
genes like me logo Genes that share ontologies with CCDC88C: view

Phenotypes for CCDC88C Gene

GenomeRNAi human phenotypes for CCDC88C:
genes like me logo Genes that share phenotypes with CCDC88C: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC88C

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC88C Gene

Localization for CCDC88C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC88C Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC88C Gene COMPARTMENTS Subcellular localization image for CCDC88C gene
Compartment Confidence
nucleus 2

Gene Ontology (GO) - Cellular Components for CCDC88C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25062847
genes like me logo Genes that share ontologies with CCDC88C: view

Pathways & Interactions for CCDC88C Gene

genes like me logo Genes that share pathways with CCDC88C: view

SIGNOR curated interactions for CCDC88C Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CCDC88C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation ISS 14750955
GO:0016055 Wnt signaling pathway IEA --
GO:0031098 stress-activated protein kinase signaling cascade IMP 25062847
GO:0031648 protein destabilization ISS 14750955
GO:0051260 protein homooligomerization ISS 14750955
genes like me logo Genes that share ontologies with CCDC88C: view

Drugs & Compounds for CCDC88C Gene

No Compound Related Data Available

Transcripts for CCDC88C Gene

Unigene Clusters for CCDC88C Gene

Coiled-coil domain containing 88C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC88C

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC88C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - - - - - -
SP2: - - -
SP3:
SP4:
SP5: - -
SP6:
SP7: - -

ExUns: 18a · 18b · 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CCDC88C Gene

GeneLoc Exon Structure for
CCDC88C
ECgene alternative splicing isoforms for
CCDC88C

Expression for CCDC88C Gene

mRNA expression in normal human tissues for CCDC88C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC88C Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for CCDC88C Gene

This gene is overexpressed in Frontal cortex (43.4) and Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCDC88C Gene



SOURCE GeneReport for Unigene cluster for CCDC88C Gene Hs.525536

genes like me logo Genes that share expression patterns with CCDC88C: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CCDC88C Gene

Orthologs for CCDC88C Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC88C Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CCDC88C 35
  • 86.33 (n)
  • 85.88 (a)
CCDC88C 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc88c 35
  • 84 (n)
  • 82.97 (a)
Ccdc88c 16
Ccdc88c 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC88C 35
  • 99.56 (n)
  • 99.36 (a)
CCDC88C 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc88c 35
  • 83.88 (n)
  • 84.64 (a)
cow
(Bos Taurus)
Mammalia CCDC88C 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC88C 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC88C 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC88C 35
  • 68.65 (n)
  • 69.1 (a)
CCDC88C 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC88C 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485260 35
  • 61.83 (n)
  • 58.88 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC553231 35
  • 60.04 (n)
  • 55.82 (a)
ccdc88c 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Girdin 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grdn-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3137 36
  • 36 (a)
OneToMany
Species with no ortholog for CCDC88C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCDC88C Gene

ENSEMBL:
Gene Tree for CCDC88C (if available)
TreeFam:
Gene Tree for CCDC88C (if available)

Paralogs for CCDC88C Gene

Paralogs for CCDC88C Gene

(2) SIMAP similar genes for CCDC88C Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CCDC88C: view

Variants for CCDC88C Gene

Sequence variations from dbSNP and Humsavar for CCDC88C Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs719671 -- 91,373,450(+) AGTCT(A/C)CAGCA intron-variant
rs722088 -- 91,368,389(+) TAAGT(A/G)GAAGA intron-variant
rs722609 -- 91,306,193(+) TCCTT(C/T)GTCTC intron-variant
rs747053 -- 91,342,510(+) GAGGG(C/T)GAAGC intron-variant
rs747054 -- 91,342,791(+) CGGGG(A/G)ACACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC88C Gene

Variant ID Type Subtype PubMed ID
nsv832857 CNV Loss 17160897
nsv817642 CNV Gain 17921354
nsv517700 CNV Loss 19592680
esv272545 CNV Insertion 20981092
nsv456393 CNV Loss 19166990
nsv1395 CNV Insertion 18451855
esv25253 CNV Loss 19812545
esv2749015 CNV Deletion 23290073
esv2749016 CNV Deletion 23290073
esv1730768 CNV Insertion 17803354
esv1637561 CNV Insertion 17803354
nsv456394 CNV Loss 19166990
nsv519459 CNV Loss 19592680

Variation tolerance for CCDC88C Gene

Residual Variation Intolerance Score: 98.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC88C Gene

HapMap Linkage Disequilibrium report
CCDC88C
Human Gene Mutation Database (HGMD)
CCDC88C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC88C Gene

Disorders for CCDC88C Gene

MalaCards: The human disease database

(6) MalaCards diseases for CCDC88C Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital hydrocephalus
congenital non-communicating hydrocephalus
  • congenital obstructive hydrocephalus
nonsyndromic hydrocephalus, ccdc88c-related
  • hydrocephalus, nonsyndromic, autosomal recessive
hydrocephalus, nonsyndromic, autosomal recessive
  • hydrocephalus, non-syndromic, autosomal recessive 1
spinocerebellar ataxia 40
  • sca40
- elite association

UniProtKB/Swiss-Prot

DAPLE_HUMAN
  • Hydrocephalus, non-syndromic, autosomal recessive 1 (HYC1) [MIM:236600]: A disease characterized by a disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic impairment. {ECO:0000269 PubMed:21031079, ECO:0000269 PubMed:23042809}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia 40 (SCA40) [MIM:616053]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCDC88C

Genetic Association Database (GAD)
CCDC88C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC88C
genes like me logo Genes that share disorders with CCDC88C: view

No data available for Genatlas for CCDC88C Gene

Publications for CCDC88C Gene

  1. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. (PMID: 25062847) Tsoi H. … Chan H.Y. (J. Med. Genet. 2014) 2 67
  2. Girdin, a novel actin-binding protein, and its family of proteins possess versatile functions in the Akt and Wnt signaling pathways. (PMID: 17185515) Enomoto A. … Takahashi M. (Ann. N. Y. Acad. Sci. 2006) 2 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms. (PMID: 24772479) Gosenca D. … Reiter A. (Genes Chromosomes Cancer 2014) 67
  5. A novel functional role for MMSET in RNA processing based on the link between the REIIBP isoform and its interaction with the SMN complex. (PMID: 24923560) Mirabella F. … Morgan G.J. (PLoS ONE 2014) 67

Products for CCDC88C Gene

Sources for CCDC88C Gene

Back to Top

Content