TMEM237

Cilia effects upon perturbation of TMEM237

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=792, lfc=-1.86) PMID:30270045

Phenotypes

Mouse phenotype:

embryonic lethality prior to tooth bud stage, enlarged lymph nodes, long tibia, increased circulating calcium level, increased brain size, increased circulating potassium level, embryonic lethality prior to organogenesis, increased circulating triglyceride level, increased circulating alkaline phosphatase level, increased circulating chloride level, preweaning lethality, complete penetrance, abnormal lymph node morphology, abnormal mammary gland morphology, increased freezing behavior

Mouse ciliopathy phenotype:

abnormal reti morphology, abnormal testis morphology, abnormal heart morphology, enlarged heart, abnormal adrel gland morphology, small adrel glands, abnormal brain morphology, small testis, increased circulating aspartate transamise level

Human ciliopathy phenotype:

Joubert syndrome; Joubert syndrome 14; Joubert syndrome with oculorenal defect

Ciliopathy associations

• Joubert Syndrome

Subcellular localization

basal body, cilia, transition zone

Functional category

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

Function

Also known as JBTS-14 . Interacts functio lly with NPHP4, MKS2, MKSR1, MKSR2, and MKS5 at the transition zone. Its interaction with NPHP4 promotes basal body-TZ attachment to the membrane and cilium formation. Loss of TMEM237 results in defective ciliogenesis and deregulation of Wnt sig ling. Mutated in Joubert syndrome related disorders (22152675).