CCDC88C (gene)

CCDC88C
Identifiers
Aliases	CCDC88C, DAPLE, HKRP2, KIAA1509, SCA40, coiled-coil domain containing 88C, HYC1
External IDs	OMIM: 611204 MGI: 1915589 HomoloGene: 18903 GeneCards: CCDC88C
Gene location (Human)
Chr.	Chromosome 14 (human)[1]
End	91,417,844 bp[1]
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)[2]
End	100,995,315 bp[2]
RNA expression pattern
	Top expressed in
	right uterine tube; ; bronchial epithelial cell; ; monocyte; ; lymph node; ; blood; ; spleen; ; ganglionic eminence; ; bone marrow cells; ; caudate nucleus; ; nucleus accumbens;
	Top expressed in
	spermatocyte; ; spermatid; ; thymus; ; spleen; ; lymph node; ; ganglionic eminence; ; blood; ; knee joint; ; secondary oocyte; ; skeletal muscle tissue;
	More reference expression data
	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
	440193
	68339
	ENSG00000015133
	ENSMUSG00000021182
	Q9P219
	Q6VGS5
	NM_001080414
	NM_026681; NM_001362342
	NP_001073883
	NP_080957; NP_001349271
	Wikidata
View/Edit Human	View/Edit Mouse

Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene. [5]

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).

References

GRCh38: Ensembl release 89: ENSG00000015133 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000021182 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000015133 - Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[entrez-5] "Entrez Gene: Coiled-coil domain containing 88C". Retrieved 2018-03-14.

CCDC88C (gene)

Function

References

Further reading