TENM3

Chr 4AR

teneurin transmembrane protein 3

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

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.

Summary from RefSeq, OMIM, UniProt
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Primary Disease Associations & Inheritance

?Microphthalmia/coloboma 9MIM #615145
AR
Microphthalmia, syndromic 15MIM #615145
AR
0
Active trials
10
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.26
LOEUF· LoF intol.
LOF
Mechanism· G2P
Clinical SummaryTENM3
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.26LOEUF
pLI 1.000
Z-score 8.11
OE 0.18 (0.130.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.30Z-score
OE missense 0.76 (0.730.80)
1191 obs / 1557.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.18 (0.130.26)
00.351.4
Missense OE0.76 (0.730.80)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 21 / 114.7Missense obs/exp: 1191 / 1557.4Syn Z: 0.11
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongTENM3-related colobomatous microphthalmiaLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.3097th %ile
GOF
0.3887th %ile
LOF
0.73top 10%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TENM3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC