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Aliases for CCDC88C Gene

Aliases for CCDC88C Gene

  • Coiled-Coil Domain Containing 88C 2 3 5
  • 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
  • Protein Daple 3
  • 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 Spinocerebellar Ataxia 40 and Hydrocephalus, Nonsyndromic, Autosomal Recessive. Among its related pathways are Ectoderm Differentiation 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).

Additional gene information for CCDC88C Gene

No data available for CIViC summary , 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

Enhancers for CCDC88C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H091360 2 FANTOM5 Ensembl ENCODE dbSUPER 32 +46.8 46800 21 HDGF PKNOX1 FOXA2 SIN3A ARID4B FEZF1 DMAP1 ZNF2 ZNF143 ZNF207 CCDC88C PPP4R3A RPS18P2 ATXN3 TRIP11 ENSG00000258875 ENSG00000260711 RPS6KA5 GC14M091833 PIR43651
GH14H091348 1.8 FANTOM5 Ensembl ENCODE dbSUPER 33.8 +64.6 64570 9 HDGF PKNOX1 TBL1XR1 SIN3A BATF RAD21 TCF12 GATA2 ZNF143 ATF7 CCDC88C PPP4R3A RPS6KA5 DGLUCY GC14M091833 PIR43651
GH14H091391 2 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +12.6 12571 28 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CCDC88C TC2N PPP4R3A TRIP11 ENSG00000258875 RPS6KA5 DGLUCY LOC105370624
GH14H091386 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20 +29.7 29712 3 PKNOX1 FOXA2 EBF1 ZIC2 RARA POLR2A EED ATF7 NR2F6 RUNX3 CCDC88C PPP4R3A TC2N RPS6KA5 GC14M091833 LOC105370624
GH14H091226 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +188.0 188016 7 HDGF PKNOX1 TBL1XR1 RB1 BMI1 BATF RFX5 EGR1 ZNF143 ZNF207 CCDC88C PPP4R3A GPR68 RPS6KA5 DGLUCY GC14P091227 ENSG00000258875
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC88C on UCSC Golden Path with GeneCards custom track

Promoters for CCDC88C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000072116 544 2201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF121 ZNF766 GLIS2 ZNF143 ZNF207

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

Genes around CCDC88C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC88C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for CCDC88C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC88C Gene

Domains & Families for CCDC88C Gene

Gene Families for CCDC88C Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

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).

Phenotypes From GWAS Catalog for CCDC88C Gene

Gene Ontology (GO) - Molecular Function for CCDC88C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IBA --
GO:0030165 PDZ domain binding ISS,IEA 14750955
GO:0043621 protein self-association IEA,ISS 14750955
GO:0051959 dynein light intermediate chain binding IBA --
genes like me logo Genes that share ontologies with CCDC88C: view

Phenotypes for CCDC88C Gene

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

Human Phenotype Ontology for CCDC88C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC88C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC88C gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC88C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 25062847
GO:0005813 centrosome IBA --
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

Pathways by source for CCDC88C Gene

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:0030705 cytoskeleton-dependent intracellular transport IBA --
GO:0031098 stress-activated protein kinase signaling cascade IMP 25062847
GO:0031122 cytoplasmic microtubule organization IBA --
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

Clone Products

  • Applied Biological Materials Clones for CCDC88C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CCDC88C Gene



NURSA nuclear receptor signaling pathways regulating expression of CCDC88C Gene:

CCDC88C

SOURCE GeneReport for Unigene cluster for CCDC88C Gene:

Hs.525536

Evidence on tissue expression from TISSUES for CCDC88C Gene

  • Stomach(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC88C Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • head
  • meninges
  • skull
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CCDC88C: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CCDC88C 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia CCDC88C 33 34
  • 86.33 (n)
cow
(Bos Taurus)
Mammalia CCDC88C 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc88c 33 16 34
  • 84 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc88c 33
  • 83.88 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC88C 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC88C 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC88C 33 34
  • 68.65 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC88C 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485260 33
  • 61.83 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC553231 33
  • 60.04 (n)
ccdc88c 34
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Girdin 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grdn-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3137 34
  • 36 (a)
OneToMany
Species where no ortholog for CCDC88C was found in the sources mined by GeneCards:
  • 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
rs587782989 Pathogenic, Spinocerebellar ataxia 40 (SCA40) [MIM:616053] 91,321,256(-) CAGCC(A/G)CATCC nc-transcript-variant, reference, missense
rs369384363 Pathogenic 91,338,121(+) GTCTC(A/C/G)ATAGG nc-transcript-variant, reference, stop-gained
rs387907320 Pathogenic 91,277,921(-) CCCAT(A/G)TGAGT splice-donor-variant
rs387907321 Pathogenic 91,272,870(-) CGCTC(-/AG)GGGAG reference, frameshift-variant
rs786205489 Likely pathogenic 91,291,030(-) ATCAT(C/G)GATCA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv1637561 CNV insertion 17803354
esv1730768 CNV insertion 17803354
esv25253 CNV loss 19812545
esv2749015 CNV deletion 23290073
esv2749016 CNV deletion 23290073
esv3308271 CNV mobile element insertion 20981092
esv3333557 CNV insertion 20981092
nsv1046924 CNV gain 25217958
nsv1069814 CNV deletion 25765185
nsv1118285 CNV deletion 24896259
nsv1126371 CNV deletion 24896259
nsv1395 CNV insertion 18451855
nsv456393 CNV loss 19166990
nsv456394 CNV loss 19166990
nsv517700 CNV loss 19592680
nsv519459 CNV loss 19592680
nsv565517 CNV loss 21841781
nsv565518 CNV loss 21841781
nsv817642 CNV gain 17921354
nsv832857 CNV loss 17160897
nsv983851 CNV duplication 23825009

Variation tolerance for CCDC88C Gene

Residual Variation Intolerance Score: 98.7% 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

Human Gene Mutation Database (HGMD)
CCDC88C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
hydrocephalus, nonsyndromic, autosomal recessive
  • hydrocephalus
congenital non-communicating hydrocephalus
  • congenital obstructive hydrocephalus
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
nonsyndromic hydrocephalus, ccdc88c-related
  • hydrocephalus, nonsyndromic, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards

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. SCA40 is an autosomal dominant, slowly progressive form. Brain MRI shows pontocerebellar atrophy along with a global reduction in brain volume. {ECO:0000269 PubMed:25062847}. 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 HY (Journal of medical genetics 2014) 2 3 4 60
  2. Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. (PMID: 23042809) Drielsma A … Edvardson S (Journal of medical genetics 2012) 3 4 60
  3. Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. (PMID: 21031079) Ekici AB … Rauch A (Molecular syndromology 2010) 3 4 60
  4. 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 (Annals of the New York Academy of Sciences 2006) 2 3 60
  5. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 60

Products for CCDC88C Gene

Sources for CCDC88C Gene

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