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Gene : CDKL5 Homo sapiens

Name  ? cyclin dependent kinase like 5 Cytological Location  Xp22.13
Brief Description  cyclin dependent kinase like 5
Description  This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
  • synonyms:
  • NM_003159,
  • EIEE2,
  • EIEE2,
  • CDKL5,
  • cyclin-dependent kinase-like 5,
  • CFAP247,
  • Y15057,
  • ISSX,
  • uc004cyn.4,
  • CFAP247,
  • OTTHUMG00000021214,
  • HGNC:11411,
  • STK9,
  • STK9,
  • serine/threonine kinase 9
  • identifiers:
  • 6792,
  • ENSG00000008086,
  • CDKL5

Genome feature

Region: gene ? Length: 228025  
Location: X:18425605-18653629 Cyto location: Xp22.13


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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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

272 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results