MICALL2

Chr 7

MICAL like 2

Also known as: JRAB, MICAL-L2

NCBI Gene: 79778 ENSG00000164877 UniProt: Q8IY33 OMIM: 620912

The MICALL2 protein regulates endocytic recycling of cell adhesion molecules to the plasma membrane and organizes actin cytoskeleton reorganization, playing essential roles in tight junction assembly and tubular recycling endosome biogenesis. Mutations cause neurodevelopmental disorders with intellectual disability and seizures, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

Enables filamin binding activity. Involved in positive regulation of protein targeting to mitochondrion. Predicted to be located in several cellular components, including bicellular tight junction; recycling endosome; and stress fiber. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.37

Clinical Summary— MICALL2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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