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Gene : CEP164 Homo sapiens

Name  ? centrosomal protein 164 Cytological Location  11q23.3
Brief Description  centrosomal protein 164
Description  This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
  • synonyms:
  • AB028975,
  • uc001prc.4,
  • NPHP15,
  • NPHP15,
  • OTTHUMG00000167070,
  • centrosomal protein 164kDa,
  • KIAA1052,
  • CEP164,
  • HGNC:29182,
  • NM_014956
  • identifiers:
  • 22897,
  • ENSG00000110274,
  • CEP164

Genome feature

Region: gene ? Length: 96921  
Location: 11:117316346-117413266 Cyto location: 11q23.3


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Function

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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

3753 SN Ps

5 Cross References

19 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results