CCDC88C

CCDC88C
Identifiers
Aliases	CCDC88C, DAPLE, HKRP2, KIAA1509, SCA40, coiled-coil domain containing 88C, HYC1
External IDs	OMIM: 611204; MGI: 1915589; GeneCards: CCDC88C
Gene location (Human) Chr. Chromosome 14 (human) Band 14q32.11-q32.12 Start 91,271,323 bp End 91,417,844 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 E Start 100,877,782 bp End 100,995,315 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube granulocyte olfactory zone of nasal mucosa bronchial epithelial cell monocyte lymph node blood spleen ganglionic eminence bone marrow cell Top expressed in granulocyte spermatocyte spermatid thymus zygote muscle of thigh spleen tail of embryo lymph node ventricular zone More reference expression data BioGPS n/a
Gene ontology Molecular function protein self-association PDZ domain binding microtubule binding dynein light intermediate chain binding Cellular component cytoplasm centrosome Biological process regulation of protein phosphorylation stress-activated protein kinase signaling cascade protein homooligomerization Wnt signaling pathway protein destabilization cytoskeleton-dependent intracellular transport cytoplasmic microtubule organization Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 440193 68339 Ensembl ENSG00000015133 ENSMUSG00000021182 UniProt Q9P219 Q6VGS5 RefSeq (mRNA) NM_001080414 NM_026681 NM_001362342 RefSeq (protein) NP_001073883 NP_080957 NP_001349271 Location (UCSC) Chr 14: 91.27 – 91.42 Mb Chr 12: 100.88 – 101 Mb PubMed search
Wikidata
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Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene.

Function

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).

Further reading

• Drielsma A, Jalas C, Simonis N, Désir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S (November 2012). "Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus". J. Med. Genet. 49 (11): 708–12. doi:10.1136/jmedgenet-2012-101190. hdl:2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/136680. PMID 23042809. S2CID 1578881.
• Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A (May 2014). "Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms". Genes Chromosomes Cancer. 53 (5): 411–21. doi:10.1002/gcc.22153. PMID 24772479. S2CID 22304318.
• Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY (September 2014). "A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia". J. Med. Genet. 51 (9): 590–5. doi:10.1136/jmedgenet-2014-102333. PMC 4145425. PMID 25062847.
• Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY (September 2014). "A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia". J. Med. Genet. 51 (9): 590–5. doi:10.1136/jmedgenet-2014-102333. PMC 4145425. PMID 25062847.
• Aznar N, Midde KK, Dunkel Y, Lopez-Sanchez I, Pavlova Y, Marivin A, Barbazán J, Murray F, Nitsche U, Janssen KP, Willert K, Goel A, Abal M, Garcia-Marcos M, Ghosh P (June 2015). "Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling". eLife. 4 e07091. doi:10.7554/eLife.07091. PMC 4484057. PMID 26126266.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.