MAB21L2

Chr 4ADAR

mab-21 like 2

Also known as: MCOPS14, MCSKS14

NCBI Gene: 10586 ENSG00000181541 UniProt: Q9Y586 OMIM: 604357

MAB21L2 encodes a nuclear protein required for normal embryonic eye development and is similar to C. elegans cell fate-determining genes downstream of TGF-beta signaling. Mutations cause microphthalmia/coloboma and skeletal dysplasia syndrome with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.549), reflecting its essential role in early developmental processes affecting ocular and skeletal systems.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microphthalmia/coloboma and skeletal dysplasia syndromeMIM #615877

ADAR

Clinical highlights

Gene-disease validity (ClinGen)

colobomatous microphthalmia-rhizomelic dysplasia syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.55

LOEUF

Multiple*

Mechanism· G2P