Human Gene CKAP2L (uc002tie.2) Description and Page Index
Description: Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA. RefSeq Summary (NM_152515): 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]. Transcript (Including UTRs) Position: hg19 chr2:113,495,444-113,522,254 Size: 26,811 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr2:113,496,400-113,522,175 Size: 25,776 Coding Exon Count: 9
Endometriosis Sosuke Adachi et al. Journal of human genetics 2010, Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population., Journal of human genetics.
Memory, Short-Term Joseph L McClay et al. Neuropsychopharmacology 2011, Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia., Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF15297 - Cytoskeleton-associated protein 2 C-terminus
ModBase Predicted Comparative 3D Structure on Q8IYA6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.