KIAA0586 (KIAA0586)

2014-11-01  

Identity

HGNC
LOCATION
14q23.1
LOCUSID
ALIAS
JBTS23,SRTD14,Talpid3
FUSION GENES

Other Information

Locus ID:

NCBI: 9786
MIM: 610178
HGNC: 19960
Ensembl: ENSG00000100578

Variants:

dbSNP: 9786
ClinVar: 9786
TCGA: ENSG00000100578
COSMIC: KIAA0586

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100578ENST00000261244Q9BVV6
ENSG00000100578ENST00000354386Q9BVV6
ENSG00000100578ENST00000423743Q9BVV6
ENSG00000100578ENST00000554463G3V4J0
ENSG00000100578ENST00000555397H0YJF0
ENSG00000100578ENST00000555833G3V2T5
ENSG00000100578ENST00000556134Q9BVV6
ENSG00000100578ENST00000619416Q9BVV6
ENSG00000100578ENST00000619722A0A087WYM5
ENSG00000100578ENST00000650904A0A494C0M8
ENSG00000100578ENST00000651596A0A494C133
ENSG00000100578ENST00000651759A0A494C075
ENSG00000100578ENST00000651852A0A494C1C3
ENSG00000100578ENST00000651937A0A494C0Z1
ENSG00000100578ENST00000652326A0A494C171
ENSG00000100578ENST00000652414A0A494C058
ENSG00000100578ENST00000652732A0A494C110

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
167024092006The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling.54
244213322014The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.39
271467172016Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis.29
260261492015Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.28
261664812015Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.27
263860442015Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.24
260963132015KIAA0586 is Mutated in Joubert Syndrome.22
263862472015TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).19
302581162018A distal centriolar protein network controls organelle maturation and asymmetry.3
301202172019Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.2

Citation

Dessen P

KIAA0586 (KIAA0586)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64860/kiaa0586