Protein Summary
Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity). This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
- ENST00000261244
- ENSP00000261244
- ENSG00000100578
- ENST00000354386
- ENSP00000346359
- ENST00000423743
- ENSP00000399427
- ENST00000556134
- ENSP00000452351
- ENST00000619416
- ENSP00000478083
- TALPID3
- JBTS23
- SRTD14
- Talpid3
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
histone modification site profile | 0.88 | ||
virus perturbation | 0.88 | ||
co-expressed gene | 0.79 | ||
transcription factor | 0.73 | ||
cell line | 0.65 | ||
Protein Classes
IDG Development Level Summary
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: 33.87 (req: < 5)
Gene RIFs: 9 (req: <= 3)
Antibodies: 10 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 33.87 (req: >= 5)
Gene RIFs: 9 (req: > 3)
Antibodies: 10 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 3
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (61)
CDC16
Novelty: 0.00916715
p_int: 0.999997849
p_ni: 0.000002145
p_wrong: 5e-9
Data Source: BioPlex
C6orf141
Novelty: 1.46022784
p_int: 0.999984927
p_ni: 0.000015049
p_wrong: 2.4e-8
Data Source: BioPlex
IL17RA
Novelty: 0.00416706
p_int: 0.99988138
p_ni: 0.000089736
p_wrong: 0.000028885
Data Source: BioPlex
Nearest Tclin Targets
Pathways (11)
WikiPathways (11)
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
WikiPathways | Joubert Syndrome | ||||
WikiPathways | Joubert Syndrome | ||||
WikiPathways | Joubert Syndrome | ||||
WikiPathways | Joubert Syndrome | ||||
WikiPathways | Joubert Syndrome | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Joubert Syndrome | ||||
Joubert Syndrome | ||||
Joubert Syndrome | ||||
Joubert Syndrome | ||||
Joubert Syndrome | ||||
Viral Interactions (0)
Gene Ontology Terms (7)
Components (4)
Processes (3)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | MGI | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-SubCell | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-SubCell | |||
Disease Associations (null)
GWAS Traits (16)
Items per page:
1 – 5 of 16
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
waist-hip ratio | 3 | 2 | 3 | 77.6 | |||||
cortical surface area measurement | 1 | 4 | 0 | 9.2 | 77.6 | ||||
BMI-adjusted waist-hip ratio | 3 | 3 | 3 | 75.7 | |||||
cortical thickness | 1 | 2 | 2 | 67.3 | |||||
mathematical ability | 1 | 1 | 1 | 44.2 | |||||
Items per page:
1 – 5 of 16
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
waist-hip ratio | 3 | 77.6 | |||||
cortical surface area measurement | 0 | 9.2 | 77.6 | ||||
BMI-adjusted waist-hip ratio | 3 | 75.7 | |||||
cortical thickness | 2 | 67.3 | |||||
mathematical ability | 1 | 44.2 | |||||
Find similar targets by:
IDG Resources
Orthologs (11)
1 – 5 of 11
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | KIAA0586 | VGNC:3400 | 452937 | |||||
Macaque | KIAA0586 ortholog | 702803 | ||||||
Mouse | MGI:1924217 | 76967 | ||||||
Rat | RGD:1585176 | 690035 | ||||||
Dog | KIAA0586 | VGNC:42349 | 480340 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | KIAA0586 | |||||
Macaque | KIAA0586 ortholog | |||||
Mouse | ||||||
Rat | ||||||
Dog | KIAA0586 | |||||
Publication Statistics
PubMed Score 33.87
PubMed score by year
PubTator Score 9.87
PubTator score by year
Related Publications
Text Mined References (20)
GeneRif Annotations (9)
Items per page:
0 of 0
PMID | Year | Title |
|---|