MIB2

Chr 1

MIB E3 ubiquitin protein ligase 2

Also known as: ZZANK1, ZZZ5

NCBI Gene: 142678 ENSG00000197530 UniProt: Q96AX9 OMIM: 611141

The encoded protein is an E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors to positively regulate Notch signaling through receptor endocytosis. Mutations cause autosomal recessive developmental delay, intellectual disability, and distinctive facial features. This gene is highly constrained against loss-of-function variants (LOEUF 0.62), suggesting that complete protein loss is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.62

LOEUF

GOF

Mechanism· predicted