TGM6

transglutaminase 6

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000166948
UniProt:
O95932
OMIM:
613900
Synonyms:
DJ734P14.3, SCA35, TGM3L, TGY

Ciliogenesis screen results (5 screens)

  • Kim2016: No effect
  • 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]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.42, ciliated=19.1%) PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.71) PMID:20393562

Phenotypes

Mouse phenotype:
decreased circulating serum albumin level, increased lean body mass, improved glucose tolerance
Human ciliopathy phenotype:
spinocerebellar ataxia type 35

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:27956704

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the TGM6 gene cause Spinocerebellar Ataxia (PMID: 21106500, 22554020).