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Gene : CDK5RAP2 Homo sapiens

Name  ? CDK5 regulatory subunit associated protein 2 Cytological Location  9q33.2
Brief Description  CDK5 regulatory subunit associated protein 2
Description  This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
  • synonyms:
  • CEP215,
  • C48,
  • C48,
  • microcephaly, primary autosomal recessive 3,
  • CDK5RAP2,
  • OTTHUMG00000021043,
  • centrosomin,
  • HGNC:18672,
  • MCPH3,
  • Cep215,
  • FLJ10867,
  • NM_018249,
  • MCPH3,
  • uc004bkf.5,
  • BK005504
  • identifiers:
  • 55755,
  • ENSG00000136861,
  • CDK5RAP2

Genome feature

Region: gene ? Length: 191302  
Location: 9:120388869-120580170 reverse strand Cyto location: 9q33.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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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]

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

1 Homologues

0 Located Features

97 Rna Seq Results