Version 5.4
| Homo sapiens Gene: CCDC88C | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-16295.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | CCDC88C | ||||||||||||||||||
| Gene Name | coiled-coil domain containing 88C | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000015133 | ||||||||||||||||||
| Encoded Proteins |
coiled-coil domain containing 88C
coiled-coil domain containing 88C
coiled-coil domain containing 88C
coiled-coil domain containing 88C
coiled-coil domain containing 88C
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 14:91271323-91417844 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q32.12 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
negative regulation of TCF-dependent signaling by DVL-interacting proteins pathway
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Signaling by Wnt pathway
Signal Transduction pathway
TCF dependent signaling in response to WNT pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Disease pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.525536 Hs.606198 Hs.732042 Hs.737610 | ||||||||||||||||||
| RefSeq | NM_001080414 XM_005267691 XM_005267692 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS45151 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||