help  | about  | cite  | software

Gene : CEP78 Homo sapiens

Name  ? centrosomal protein 78 Cytological Location  9q21.2
Brief Description  centrosomal protein 78
Description  This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]
  • synonyms:
  • C9orf81,
  • chromosome 9 open reading frame 81,
  • HGNC:25740,
  • C9orf81,
  • IP63,
  • centrosomal protein 78kDa,
  • OTTHUMG00000020062,
  • uc004aky.5,
  • CEP78,
  • BC058931,
  • FLJ12643,
  • NM_001098802,
  • CRDHL
  • identifiers:
  • 84131,
  • ENSG00000148019,
  • CEP78

Genome feature

Region: gene ? Length: 43616  
Location: 9:78236075-78279690 Cyto location: 9q21.2


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

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

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

416 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results