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CKAP2L
Identifiers
Aliases	CKAP2L, cytoskeleton associated protein 2 like
External IDs	OMIM: 616174; MGI: 1917716; HomoloGene: 51866; GeneCards: CKAP2L; OMA:CKAP2L - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q14.1 Start 112,736,349 bp End 112,764,664 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F1 Start 129,110,130 bp End 129,139,132 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence gonad testicle oocyte secondary oocyte bone marrow cells trabecular bone stromal cell of endometrium appendix Top expressed in otic vesicle hand genital tubercle ventricular zone Paneth cell superior cervical ganglion tail of embryo maxillary prominence spermatid zygote More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 150468 70466 Ensembl ENSG00000169607 ENSMUSG00000048327 UniProt Q8IYA6 Q7TS74 RefSeq (mRNA) NM_001304361 NM_152515 NM_181589 RefSeq (protein) NP_001291290 NP_689728 NP_853620 Location (UCSC) Chr 2: 112.74 – 112.76 Mb Chr 2: 129.11 – 129.14 Mb PubMed search
Wikidata
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Cytoskeleton associated protein 2 like is a protein that in humans is encoded by the CKAP2L gene.

Function

The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. .

References

1. ^ GRCh38: Ensembl release 89: ENSG00000169607 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000048327 – 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: Cytoskeleton associated protein 2 like". Retrieved 2018-05-24.

Further reading

• Fiebig A, Jepsen S, Loos BG, Scholz C, Schäfer C, Rühling A, Nothnagel M, Eickholz P, van der Velden U, Schenck K, Schreiber S, Grössner-Schreiber B (November 2008). "Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population". Genomics. 92 (5): 309–15. doi:10.1016/j.ygeno.2008.07.004. PMID 18723088.
• Dick DM, Meyers J, Aliev F, Nurnberger J, Kramer J, Kuperman S, Porjesz B, Tischfield J, Edenberg HJ, Foroud T, Schuckit M, Goate A, Hesselbrock V, Bierut L (September 2010). "Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts". Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (6): 1179–88. doi:10.1002/ajmg.b.31089. PMC 3597340. PMID 20468071.
• Yumoto T, Nakadate K, Nakamura Y, Sugitani Y, Sugitani-Yoshida R, Ueda S, Sakakibara S (2013). "Radmis, a novel mitotic spindle protein that functions in cell division of neural progenitors". PLOS ONE. 8 (11): e79895. Bibcode:2013PLoSO...879895Y. doi:10.1371/journal.pone.0079895. PMC 3832648. PMID 24260314.

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

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