TMEM97
transmembrane protein 97
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000109084
- UniProt:
- Q5BJF2
- OMIM:
- 612912
- Synonyms:
- MAC30, S2R
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]: Negative Regulator (Hh signaling, pos_rank=77, lfc=0.86) PMID:30270045
Phenotypes
- Mouse phenotype:
- decreased hemoglobin content, abnormal vocalization, decreased hematocrit, decreased erythrocyte cell number, increased red blood cell distribution width
Subcellular localization
cilia
References: PMID:41005307, https://iovs.arvojournals.org/article.aspx?articleid=2780118
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
Function
TMEM97 is a sterol-binding tetraspanin membrane receptor required for cellular cholesterol homeostasis. We previously reported immunolocalization to photoreceptor (PR) connecting cilia in mouse retina (Fliesler et. al. ARVO 2022), but questioned the unexpected pattern observed. Here, we further evaluated TMEM97 immunolocalization in the mouse retina, comparing multiple TMEM97 antibodies and improving antigen presentation/target specificity.These findings are consistent with TMEM97 having a role in the structure and function of primary cilia in neural retina (especially photoreceptors) and RPE centrosomes.