BLTP2

bridge-like lipid transfer protein family member 2

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000007202
OMIM:: 610664
Synonyms:: BCOX, BCOX1, CT101, DKFZP686M0843, FMP27, HOB, KIAA0100, MGC111488

Phenotypes

Mouse phenotype:: increased heart weight

Subcellular localization

cilia, Nuclear speckles, Cytosol

References: PMID:38536441

Functional category

Non-motile cilium / primary cilium
Ciliary assembly/disassembly
Cilia–cytoskeleton/adhesion links

Function

We establish BLTP2 as a negative regulator of ciliogenesis in RPE-1 cells based on a strong genetic interaction with WDR44, a gene that also suppresses ciliogenesis. Like WDR44, BLTP2 localizes to membrane contact sites involving the endoplasmic reticulum and the tubular endosome network in HeLa cells and that BLTP2 depletion enhanced ciliogenesis in RPE-1 cells grown in serum-containing medium, a condition where ciliogenesis is normally suppressed. This study establishes human BLTP2 as a putative LTP acting between tubular endosomes and ER that regulates primary cilium biogenesis(38536441).

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