KIAA0586 KIAA0586

Gene ID: 9786, updated on 2-Nov-2024
Gene type: protein coding
Also known as: JBTS23; SRTD14; Talpid3

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Joubert syndrome 23 MedGen: C4084822OMIM: 616490GeneReviews: Joubert Syndrome	See labs
Short-rib thoracic dysplasia 14 with polydactyly MedGen: C4225286OMIM: 616546GeneReviews: Not available	See labs

Genomic context

Location:: 14q23.1

Sequence:: Chromosome: 14; NC_000014.9 (58427400..58562090)

Total number of exons:: 40

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for KIAA0586 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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