TXNDC15

thioredoxin domain containing 15

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

Cilia effects upon perturbation of TXNDC15

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

Subcellular localization

basal body

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).

Model organism evidence

C. elegans (1 reference)

Primary cilia are signaling hubs that influence nearly every aspect of cell physiology.

PMIDs: 41993352