TRPM3

transient receptor potential cation channel subfamily M member 3

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000083067
UniProt:: Q9HCF6
OMIM:: 608961
Synonyms:: GON-2, KIAA1616, LTRPC3

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
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: hyperactivity
Human ciliopathy phenotype:: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures; cataract 50 with or without glaucoma

Subcellular localization

basal body

References: PMID:28122715

Functional category

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

Function

primary cilia are required for the maximal osmotic response in renal epithelial cells and that TRPM3 is involved in this mechanism and coexpression with acetylated α-tubulin and γ-tubulin(28122715).

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