Identity
HGNC
LOCATION
14q23.1
LOCUSID
ALIAS
JBTS23,SRTD14,Talpid3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9786
MIM: 610178
HGNC: 19960
Ensembl: ENSG00000100578
Variants:
dbSNP: 9786
ClinVar: 9786
TCGA: ENSG00000100578
COSMIC: KIAA0586
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36538006 | 2023 | Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis. | 2 |
| 36538006 | 2023 | Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis. | 2 |
| 32381069 | 2020 | Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. | 3 |
| 33326788 | 2020 | Talpid3-Mediated Centrosome Integrity Restrains Neural Progenitor Delamination to Sustain Neurogenesis by Stabilizing Adherens Junctions. | 8 |
| 32381069 | 2020 | Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. | 3 |
| 33326788 | 2020 | Talpid3-Mediated Centrosome Integrity Restrains Neural Progenitor Delamination to Sustain Neurogenesis by Stabilizing Adherens Junctions. | 8 |
| 30120217 | 2019 | Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. | 9 |
| 30988386 | 2019 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 17 |
| 31326647 | 2019 | TALPID3 in Joubert syndrome and related ciliopathy disorders. | 9 |
| 30120217 | 2019 | Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. | 9 |
| 30988386 | 2019 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 17 |
| 31326647 | 2019 | TALPID3 in Joubert syndrome and related ciliopathy disorders. | 9 |
| 30258116 | 2018 | A distal centriolar protein network controls organelle maturation and asymmetry. | 20 |
| 30258116 | 2018 | A distal centriolar protein network controls organelle maturation and asymmetry. | 20 |
| 27146717 | 2016 | Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis. | 57 |
Citation
Dessen P
KIAA0586 (KIAA0586)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64860/kiaa0586-(kiaa0586)
