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Gene : CEP112 Homo sapiens

Name  ? centrosomal protein 112 Cytological Location  17q24.1
Brief Description  centrosomal protein 112
Description  This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
  • synonyms:
  • AF458591,
  • HGNC:28514,
  • coiled-coil domain containing 46,
  • NM_145036,
  • CEP112,
  • OTTHUMG00000179474,
  • uc002jfm.4,
  • MGC33887,
  • centrosomal protein 112kDa,
  • CCDC46,
  • MACOCO,
  • CCDC46
  • identifiers:
  • 201134,
  • ENSG00000154240,
  • CEP112

Genome feature

Region: gene ? Length: 556597  
Location: 17:65635537-66192133 reverse strand Cyto location: 17q24.1


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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

0 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

3753 SN Ps

4 Cross References

16 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results