TENM3

Chr 4AR

teneurin transmembrane protein 3

Also known as: MCOPCB9, MCOPS15, ODZ3, TEN3, TNM3, Ten-m3, ten-3

NCBI Gene: 55714 ENSG00000218336 UniProt: Q9P273 OMIM: 610083

This gene encodes a teneurin transmembrane protein that regulates neural connectivity establishment, controls precise topographic projections in the hippocampus, and is required for proper dendrite morphogenesis and axon targeting in the visual system. Autosomal recessive mutations cause syndromic microphthalmia with or without coloboma, sometimes associated with developmental dysplasia of the hip. The gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that heterozygous loss-of-function is likely not tolerated.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the teneurin transmembrane protein family. The encoded protein may be involved in the regulation of neuronal development including development of the visual pathway. Mutations in this gene have been associated with microphthalmia and developmental dysplasia of the hip. [provided by RefSeq, Jan 2023]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Microphthalmia/coloboma 9MIM #615145

Microphthalmia, syndromic 15MIM #615145

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· G2P