BCAS2

BCAS2 pre-mRNA processing factor

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000116752
UniProt:: O75934
OMIM:: 605783
Synonyms:: DAM1, SNT309, SPF27

Ciliogenesis screen results (5 screens)

Kim2016: Not Reported
Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=984, lfc=-2.21) PMID:30270045

Subcellular localization

basal body, nucleus

References: PMID:37250316

Functional category

Ciliary assembly/disassembly

Function

In the CHOL tissues, CEP250 colocalized with spliceosome components BUD31 and BCAS2, centrosome-associated spliceosome components (37250316). Centrosomes and cilia act as anchor for cell-type specific spliceosome components, and provide a helpful reference for explore cytoplasmic condensates functions in defining cell identity and in the origin of rare diseases.

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