CCNL2

Chr 1

cyclin L2

Also known as: ANIA-6B, CCNM, CCNS, HCLA-ISO, HLA-ISO, PCEE, SB138

NCBI Gene: 81669 ENSG00000221978 UniProt: Q96S94 OMIM: 613482

The protein is a regulatory component of the cyclin-L-CDK11 complex that controls transcription and pre-mRNA splicing, and may induce cell death by affecting transcription and RNA processing of apoptosis-related factors. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows autosomal recessive inheritance and is highly constrained against loss-of-function variants (LOEUF 0.47).

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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