| CCDC88C | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CCDC88C , DAPLE, HKRP2, KIAA1509, SCA40, coiled-coil domain containing 88C, HYC1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611204 MGI: 1915589 HomoloGene: 18903 GeneCards: CCDC88C | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene. [5]
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, 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).
Platelet-derived growth factor receptor beta is a protein that in humans is encoded by the PDGFRB gene. Mutations in PDGFRB are mainly associated with the clonal eosinophilia class of malignancies.
Axin-1 is a protein that in humans is encoded by the AXIN1 gene.
Frizzled-2(Fz-2) is a protein that in humans is encoded by the FZD2 gene.
Frizzled-4(Fz-4) is a protein that in humans is encoded by the FZD4 gene. Fz-4 has also been designated as CD344.
Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene.
Axin-2 also known as axin-like protein (Axil) or axis inhibition protein 2 (AXIN2) or conductin is a protein that in humans is encoded by the AXIN2 gene.
Mitogen-activated protein kinase kinase kinase 4 is an enzyme that in humans is encoded by the MAP3K4 gene.
Segment polarity protein dishevelled homolog DVL-2 is a protein that in humans is encoded by the DVL2 gene.
Segment polarity protein dishevelled homolog DVL-3 is a protein that in humans is encoded by the DVL3 gene.
Coiled-coil domain-containing protein 113 also known as HSPC065, GC16Pof6842 and GC16P044152, is a protein that in humans is encoded by the CCDC113 gene. The human CCDC113 gene is located on chromosome 16q21 and encodes 5,304 base pairs of mRNA and 377 amino acids.
Dishevelled (Dsh) is a family of proteins involved in canonical and non-canonical Wnt signalling pathways. Dsh is a cytoplasmic phosphoprotein that acts directly downstream of frizzled receptors. It takes its name from its initial discovery in flies, where a mutation in the dishevelled gene was observed to cause improper orientation of body and wing hairs. There are vertebrate homologs in zebrafish, Xenopus (Xdsh), mice and humans. Dsh relays complex Wnt signals in tissues and cells, in normal and abnormal contexts. It is thought to interact with the SPATS1 protein when regulating the Wnt Signalling pathway.
Wnt-10a is a protein that in humans is encoded by the WNT10A gene.
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.
CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.
Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.
Cilia and flagella associated protein 53 is a protein that in humans is encoded by the CFAP53 gene.
Sorting nexin 10 is a protein that in humans is encoded by the SNX10 gene.
Prickle planar cell polarity protein 1 is a protein that in humans is encoded by the PRICKLE1 gene.
Dishevelled binding antagonist of beta catenin 1 is a protein that in humans is encoded by the DACT1 gene. Dact1 was originally described in 2002 as a negative regulator of Wnt signaling by binding and destabilizing Dishevelled. More recent investigation into the molecular function of Dact1 has identified its principle role in the cell as a scaffold to generate membrane-less biomolecular condensates through liquid-liquid phase separation. Mutations in the phase-separating regions of Dact1 lead to Townes-Brock Syndrome 2 while its overexpression is associated with bone metastasis.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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