TXNDC15

thioredoxin domain containing 15

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000113621
UniProt:
Q96J42
OMIM:
617778
Synonyms:
2310047H23RIK, C5ORF14, FLJ22625, TMX5

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.31) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.57) PMID:29459680

Phenotypes

Human ciliopathy phenotype:
meckel syndrome 14; Meckel syndrome

Ciliopathy associations

  • Joubert Syndrome
  • Meckel-Gruber Syndrome

References: PMID:39304719, PMID:27894351, PMID:30138887, PMID:30851085

Subcellular localization

basal body

References: PMID:27894351, PMID:31411728

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Transition zone

Function

Mutated in patients with Meckel-Gruber syndrome (27894351, 30851085, 31411728). Loss of TXNDC15 prevented correct localization of the TMEM67 ciliary receptor to the transition zone (27894351).