TTC21A

tetratricopeptide repeat domain 21A

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000168026
UniProt:: Q8NDW8
OMIM:: 611430
Synonyms:: IFT139A, STI2, THM2

Ciliogenesis screen results (4 screens)

Kim2016: Not Reported
Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

Male Infertility

References: PMID:30929735, PMID:36756949

Subcellular localization

basal body, nucleoplasm

Functional category

Motile cilium & axoneme; Non-motile cilium / primary cilium

Function

With ciliary axonemes and centrioles labeled with anti-Ac-α-tubulin and anti-γ-tubulin, respectively, we found that cilium length was reduced after Cep78, Ift20, or Ttc21a knockdown and could be rescued by exogenous expression of Cep78syn-HA, Ift20syn-Flag, and Ttc21asyn-Flag . Cep78, Ift20, and Ttc21a located in the base of the cilium (PMID: 36756949). The TTC21A-associated morphological abnormalities affect sperm flagella and head-tail conjunction. The detailed molecular contributions of TTC21A to sperm flagellar formation and intraflagellar transport need to be further investigated in future studies (PMID: 30929735).

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