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Gene : CKAP2L Homo sapiens

Name  ? cytoskeleton associated protein 2 like Cytological Location  2q14.1
Brief Description  cytoskeleton associated protein 2 like
Description  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]
  • synonyms:
  • CKAP2L,
  • radial fiber and mitotic spindle,
  • AL832036,
  • uc002tie.3,
  • radmis,
  • NM_152515,
  • HGNC:26877,
  • OTTHUMG00000131313,
  • FLJ40629
  • identifiers:
  • 150468,
  • ENSG00000169607,
  • CKAP2L

Genome feature

Region: gene ? Length: 28269  
Location: 2:112736349-112764617 reverse strand Cyto location: 2q14.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

38 SNPs

5 Cross References

17 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results