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Gene : CEP41 Homo sapiens

Name  ? centrosomal protein 41 Cytological Location  7q32.2
Brief Description  centrosomal protein 41
Description  This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
  • synonyms:
  • testis specific, 14,
  • CEP41,
  • AJ278890,
  • JBTS15,
  • HGNC:12370,
  • TSGA14,
  • FLJ22445,
  • DKFZp762H1311,
  • centrosomal protein 41kDa,
  • TSGA14,
  • NM_018718,
  • uc003vpz.5,
  • JBTS15,
  • OTTHUMG00000157823
  • identifiers:
  • 95681,
  • ENSG00000106477,
  • CEP41

Genome feature

Region: gene ? Length: 47440  
Location: 7:130393771-130441210 reverse strand Cyto location: 7q32.2


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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

3 Homologues

0 Located Features

97 Rna Seq Results