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Gene : CEP104 Homo sapiens

Name  ? centrosomal protein 104 Cytological Location  1p36.32
Brief Description  centrosomal protein 104
Description  This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
  • synonyms:
  • AB011134,
  • NM_014704,
  • CFAP256,
  • OTTHUMG00000003507,
  • GlyBP,
  • centrosomal protein 104kDa,
  • CEP104,
  • ROC22,
  • HGNC:24866,
  • CFAP256,
  • KIAA0562,
  • JBTS25,
  • JBTS25,
  • glycine, glutamate, thienylcyclohexylpiperidine binding protein,
  • uc001aky.3,
  • RP1-286D6.4,
  • ROC22,
  • KIAA0562,
  • GlyBP
  • identifiers:
  • 9731,
  • ENSG00000116198,
  • CEP104

Genome feature

Region: gene ? Length: 45148  
Location: 1:3812086-3857233 reverse strand Cyto location: 1p36.32


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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.

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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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results