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Tbio
CEP104
Centrosomal protein of 104 kDa

Protein Summary
Description
Required for ciliogenesis and for structural integrity at the ciliary tip. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000378223
  • ENSP00000367468
  • ENSG00000116198
  • ENST00000378230
  • ENSP00000367476

Symbol
  • KIAA0562
  • GlyBP
  • ROC22
  • JBTS25
  • CFAP256
  • KIAA0562
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.89
cell type or tissue
0.74
tissue sample
0.65
molecular function
0.56
cell line
0.54


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 15.52   (req: < 5)
Gene RIFs: 2   (req: <= 3)
Antibodies: 87   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 15.52   (req: >= 5)
Gene RIFs: 2   (req: > 3)
Antibodies: 87   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (48)
SLC7A7
Tbio
Family:  Transporter
Novelty:  0.01503788
Score:  0.81
Data Source:  STRINGDB
CEP97
Tbio
Novelty:  0.12709162
Score:  0.795
Data Source:  STRINGDB
CCP110
Tbio
Novelty:  0.02399511
Score:  0.781
Data Source:  STRINGDB
TTBK2
Tbio
Family:  Kinase
Novelty:  0.03262289
Score:  0.703
Data Source:  STRINGDB
CCDC27
Tdark
Novelty:  1.27912281
Score:  0.665
Data Source:  STRINGDB
RIMBP2
Tdark
Novelty:  0.06169893
Score:  0.663
Data Source:  STRINGDB
C1orf174
Tdark
Novelty:  4.20172485
Score:  0.642
Data Source:  STRINGDB
SLC7A6
Tbio
Family:  Transporter
Novelty:  0.02732334
Score:  0.64
Data Source:  STRINGDB
SLC3A2
Tbio
Family:  Transporter
Novelty:  0.0021506
Score:  0.623
Data Source:  STRINGDB
SLC16A6
Tdark
Family:  Transporter
Novelty:  0.0594036
Score:  0.61
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (2)
Find Similar Targets
Items per page:
1 – 2 of 2
Data Source
Name
Explore in Pharos
Explore in Source
WikiPathways
Genes related to primary cilium development (based on CRISPR)
WikiPathways
Joubert Syndrome
Name
Explore in Pharos
Explore in Source
Genes related to primary cilium development (based on CRISPR)
Joubert Syndrome
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
4
3
7
96.6
reticulocyte count
7
2
9
94.7
reticulocyte measurement
3
2
5
94.3
hemoglobin measurement
3
2
3
91.9
mean corpuscular volume
1
1
1
86.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
7
96.6
reticulocyte count
9
94.7
reticulocyte measurement
5
94.3
hemoglobin measurement
3
91.9
mean corpuscular volume
1
86.7
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
centrosomal protein 104
VGNC:491
457238
Macaque
centrosomal protein 104
695837
Mouse
MGI:2687282
230967
Rat
RGD:708505
246295
Dog
centrosomal protein 104
VGNC:39115
607774
Species
Name
OMA
EggNOG
Inparanoid
Chimp
centrosomal protein 104
Macaque
centrosomal protein 104
Mouse
Rat
Dog
centrosomal protein 104
Publication Statistics
PubMed Score 15.52
PubMed score by year
PubTator Score 5.42
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title