TCTN2

tectonic family member 2

Ensembl:
ENSG00000168778
UniProt:
Q96GX1
OMIM:
613846
Synonyms:
C12ORF38, FLJ12975, JBTS24, MKS8, TECT2

Cilia effects upon perturbation of TCTN2

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.13) PMID:29459680

Phenotypes

Human ciliopathy phenotype:
Joubert syndrome; Meckel syndrome; Joubert syndrome and related disorders

Ciliopathy associations

  • Joubert Syndrome
  • Meckel-Gruber Syndrome

Subcellular localization

cilia, lysosomes, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Ciliary membrane
  • Transition zone

Function

Form a complex with Tctn3, Mks1, Tmem216, Tmem67, Cep290, Cc2d2a, B9d1 and Tctn1 to regulate ciliogenesis and ciliary membrane composition (21725307). Mutations disrupts ciliogenesis, Hh sig ling (28800946) and neural tube patterning (29725084). Regulator of Shh pathway. Role in selective trafficking of ciliary proteins to cilia, required for ciliogenesis (29725084). Indispensible for ciliogenesis in the neural tube (21565611). Mutations have also been identified as cause of Meckel鈥揋ruber syndrome (32655147).

Model organism evidence

Mus musculus (2 references)

We investigated multiple mouse models of human ciliopathies (including Tctn2, Cc2d2a, and Tmem231 mutants) and discovered that each displays hypotelorism, a narrowing of the midface.

Tectonic proteins including TCTN1, TCTN2, and TCTN3 are important component proteins residing at the transition zone of cilia.

PMIDs: 34672258, 30286481