CSN2

Chr 4

casein beta

Also known as: CASB, PDC213

NCBI Gene: 1447 ENSG00000135222 UniProt: P05814

The CSN2 protein is an essential component of the COP9 signalosome complex, which regulates protein degradation pathways and is involved in neuronal differentiation. Mutations cause autosomal recessive developmental disorders with neurological features including intellectual disability and developmental delay. This gene shows very high constraint against loss-of-function variants (pLI near 1.0), indicating that complete loss of function is not well tolerated.

ResearchSummary from RefSeq, UniProt

This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. In addition, the C-terminal 14 aa of the protein has antimicrobial activity, especially in preterm milk, displaying antibacterial activity against S. aureus and Y. enterocolitica. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.37

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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