TMEM114

Chr 16

transmembrane protein 114

NCBI Gene: 283953 ENSG00000232258 UniProt: B3SHH9 OMIM: 611579

This gene encodes a glycosylated transmembrane protein involved in lens and eye development. Mutations cause congenital and juvenile cataract disorders with autosomal dominant inheritance. The gene shows low constraint to loss-of-function variation, suggesting tolerance to such variants in the general population.

OMIM ResearchSummary from RefSeq

This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.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

1.82

LOEUF

LOF*

Mechanism· G2P