CCDC88C (gene) (original) (raw)

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Protein-coding gene in humans

CCDC88C
Identifiers
Aliases	CCDC88C, DAPLE, HKRP2, KIAA1509, SCA40, coiled-coil domain containing 88C, HYC1
External IDs	OMIM: 611204; MGI: 1915589; HomoloGene: 18903; GeneCards: CCDC88C; OMA:CCDC88C - orthologs
Gene location (Human)Chr.Chromosome 14 (human)[1]Band14q32.11-q32.12Start91,271,323 bp[1]End91,417,844 bp[1]
Gene location (Mouse)Chr.Chromosome 12 (mouse)[2]Band12|12 EStart100,877,782 bp[2]End100,995,315 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright uterine tubegranulocyteolfactory zone of nasal mucosabronchial epithelial cellmonocytelymph nodebloodspleenganglionic eminencebone marrow cellsTop expressed ingranulocytespermatocytespermatidthymuszygotemuscle of thighspleentail of embryolymph nodeventricular zoneMore reference expression dataBioGPSn/a
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez44019368339EnsemblENSG00000015133ENSMUSG00000021182UniProtQ9P219Q6VGS5RefSeq (mRNA)NM_001080414NM_026681NM_001362342RefSeq (protein)NP_001073883NP_080957NP_001349271Location (UCSC)Chr 14: 91.27 – 91.42 MbChr 12: 100.88 – 101 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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).

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000015133 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021182 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: Coiled-coil domain containing 88C". Retrieved 2018-03-14.

• 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. 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.