CEP85L

CEP85L
Identifiers
Aliases	CEP85L, C6orf204, NY-BR-15, bA57K17.2, centrosomal protein 85 like, LIS10
External IDs	MGI: 3642684; GeneCards: CEP85L
Gene location (Human)
Chr.	Chromosome 6 (human)
End	118,710,075 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	53,256,043 bp
RNA expression pattern
	Top expressed in
	thymus; ; tibialis anterior muscle; ; pylorus; ; spinal ganglia; ; trigeminal ganglion; ; deltoid muscle; ; Skeletal muscle tissue of biceps brachii; ; myocardium of left ventricle; ; testicle; ; left testis;
	Top expressed in
	spermatid; ; otolith organ; ; intercostal muscle; ; utricle; ; thoracic diaphragm; ; soleus muscle; ; temporal muscle; ; sternocleidomastoid muscle; ; muscle of thigh; ; triceps brachii muscle;
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	387119
	100038725
	ENSG00000111860
	ENSMUSG00000038594
	Q5SZL2
	A0A1W2P884
	NM_001042475; NM_001178035; NM_206921
	NM_001204983
	NP_001035940; NP_001171506; NP_996804
	NP_001191912
	Wikidata
View/Edit Human	View/Edit Mouse

Centrosomal protein of 85 kDa-like is a protein that in humans is encoded by the CEP85L gene. This protein has been identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. It has been shown to be related to the QT interval in GWAS studies. This protein localizes in the centrosome.

Pathology

Mutations of the CEP85L gene are associated with a type of posterior predominant lissencephaly called lissencephaly 10.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000111860 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038594 – 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.
↑ Database, GeneCards Human Gene. "CEP85L Gene - GeneCards | CE85L Protein | CE85L Antibody". www.genecards.org.
↑ Chambers JC, Zhao J, Terracciano CM, Bezzina CR, Zhang W, Kaba R, et al. (February 2010). "Genetic variation in SCN10A influences cardiac conduction". Nature Genetics. 42 (2): 149–52. doi:10.1038/ng.516. PMID 20062061. S2CID 39153818.
↑ Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, et al. (April 2020). "Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly". Neuron. 106 (2): 237–245.e8. doi:10.1016/j.neuron.2020.01.027. PMC 7357395. PMID 32097630.
↑ "LISSENCEPHALY 10; LIS10". Johns Hopkins University. Retrieved 2026-09-12.

CEP85L

Pathology

References

Further reading