CKAP2L

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. [provided by RefSeq, Jan 2015]

Description

Cytoskeleton associated protein 2 like

Tissue specificity

Group enriched (bone marrow, lymphoid tissue, testis)

Subcell location

Microtubules, Mitotic spindle, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (112736349 - 112764664)

Ensembl ID

ENSG00000169607  (ver. 103.38)

Orthologs

Mouse Ckap2l: ENSMUSG00000048327

UniProt

Q8IYA6

neXtProt

NX_Q8IYA6

Human splice variants
Mouse splice variants

Protein structure