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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TENM3
teneurin transmembrane protein 3
Chromosome 4 Β· 4q34.3-q35.1
NCBI Gene: 55714Ensembl: ENSG00000218336.10HGNC: HGNC:29944UniProt: A0A140VJW8
53PubMed Papers
22Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
camera-type eye morphogenesisprotein homodimerization activityprotein heterodimerization activityhomophilic cell-cell adhesionmicrophthalmia, isolated, with coloboma 9microphthalmia, isolated, with colobomaneurotic disorderovarian neoplasm
✦AI Summary

TENM3 is a transmembrane cell adhesion protein primarily known for its role in neural development and connectivity. In the nervous system, TENM3 regulates establishment of precise neural circuits through homophilic cell adhesion mechanisms, functioning in both pre- and postsynaptic neurons [UniProt]. Specifically, TENM3 is required for proper hippocampal connectivity between CA1 and subicular neurons and controls dendrite morphogenesis and axon targeting in the visual system by regulating ipsilateral retinal mapping to the dorsal lateral geniculate nucleus and superior colliculus [UniProt]. Structurally, TENM3 binds the adhesion GPCR Latrophilin through its YD shell domain, forming trans-cellular complexes that direct neuron migration via contact repulsion-dependent mechanisms 1. Clinically, biallelic TENM3 pathogenic variants cause syndromic microphthalmia 15 (MCOPS15), characterized by microcornea, iris and choroidal coloboma, and global developmental delay 2. TENM3 variants are also associated with isolated microphthalmia and coloboma 3, and represent a differential diagnosis consideration in congenital aniridia 4. Beyond ocular development, TENM3 shows suggestive evidence for involvement in developmental dysplasia of the hip etiopathogenesis 5, and recent studies identify TENM3 as a differentially expressed gene with rare variant sharing in familial eosinophilic esophagitis 6. Notably, dysregulation of TENM3-associated pathways occurs in cancer contexts, including gastric cancer metastasis and prostate cancer perineural invasion 78.

Sources cited
1
TENM3 binds Latrophilin through its YD shell domain and directs neuron migration via contact repulsion
PMID: 31928845
2
Biallelic TENM3 pathogenic variants cause syndromic microphthalmia 15 with microcornea, coloboma, and developmental delay
PMID: 35397152
3
TENM3 variants associate with colobomatous microphthalmia and intellectual disability
PMID: 29753094
4
TENM3 variants are a differential diagnosis consideration in congenital aniridia
PMID: 40138169
5
TENM3 mutations show suggestive evidence for involvement in developmental dysplasia of the hip etiopathogenesis
PMID: 31522852
6
TENM3 identified as differentially expressed gene with rare variant sharing in familial eosinophilic esophagitis
PMID: 39914776
7
TENM3-AS1 (TENM3 antisense RNA) involved in gastric cancer metastasis via fatty acid metabolism reprogramming
PMID: 40481489
8
TENM3 is a transcriptional target in FAM135A-induced prostate cancer perineural invasion pathway
PMID: 41250119
Disease Associationsβ“˜22
microphthalmia, isolated, with coloboma 9Open Targets
0.75Strong
microphthalmia, isolated, with colobomaOpen Targets
0.46Moderate
neurotic disorderOpen Targets
0.42Moderate
ovarian neoplasmOpen Targets
0.38Weak
ProptosisOpen Targets
0.31Weak
brain aneurysmOpen Targets
0.31Weak
Abnormality of limbsOpen Targets
0.31Weak
poisoningOpen Targets
0.31Weak
placenta praeviaOpen Targets
0.31Weak
Myasthenia gravisOpen Targets
0.30Weak
liver diseaseOpen Targets
0.30Weak
injuryOpen Targets
0.30Weak
IGA glomerulonephritisOpen Targets
0.29Weak
circadian rhythm sleep disorderOpen Targets
0.28Weak
glomerulonephritisOpen Targets
0.28Weak
joint diseaseOpen Targets
0.28Weak
smoking initiationOpen Targets
0.28Weak
ulcerative colitisOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.26Weak
chronic fatigue syndromeOpen Targets
0.26Weak
Microphthalmia, syndromic, 15UniProt
Microphthalmia/Coloboma 9UniProt
Pathogenic Variants10
NM_001080477.4(TENM3):c.7214-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_001080477.4(TENM3):c.5500C>T (p.Arg1834Ter)Likely pathogenic
Microphthalmia, isolated, with coloboma 9
β˜…β˜†β˜†β˜†2025β†’ Residue 1834
NM_001080477.4(TENM3):c.6006_6009del (p.Gln2003fs)Likely pathogenic
Microphthalmia, isolated, with coloboma 9
β˜…β˜†β˜†β˜†2024β†’ Residue 2003
NM_001080477.4(TENM3):c.2279G>A (p.Trp760Ter)Pathogenic
Microphthalmia, isolated, with coloboma 9
β˜…β˜†β˜†β˜†2022β†’ Residue 760
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp)Likely pathogenic
Microphthalmia, isolated, with coloboma 9|MICROPHTHALMIA, SYNDROMIC 15
β˜…β˜†β˜†β˜†β†’ Residue 2563
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly)Likely pathogenic
Microphthalmia, isolated, with coloboma 9|MICROPHTHALMIA, SYNDROMIC 15
β˜…β˜†β˜†β˜†β†’ Residue 1349
NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter)Pathogenic
Microphthalmia, isolated, with coloboma 9
β˜…β˜†β˜†β˜†β†’ Residue 520
NM_001080477.4(TENM3):c.1857T>A (p.Cys619Ter)Pathogenic
MICROPHTHALMIA, SYNDROMIC 15
β˜†β˜†β˜†β˜†2019β†’ Residue 619
NM_001080477.4(TENM3):c.2968-2A>TPathogenic
MICROPHTHALMIA, SYNDROMIC 15
β˜†β˜†β˜†β˜†2019
NM_001080477.4(TENM3):c.2083dup (p.Thr695fs)Pathogenic
Microphthalmia, isolated, with coloboma 9
β˜†β˜†β˜†β˜†2012β†’ Residue 695
View on ClinVar β†—
Related Genes
ADGRL3Protein interaction99%ADGRL2Protein interaction98%ADGRL1Protein interaction98%HMCN2Shared pathway33%PCDH17Shared pathway33%TENM2Shared pathway29%
Tissue Expression6 tissues
Brain
100%
Ovary
18%
Heart
16%
Lung
5%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TENM3ADGRL3ADGRL2ADGRL1HMCN2PCDH17TENM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9P273
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.30Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.25 [0.20–0.30]
RankingsWhere TENM3 stands among ~20K protein-coding genes
  • #8,507of 20,598
    Most Researched53
  • #2,872of 5,498
    Most Pathogenic Variants10
  • #1,193of 17,882
    Most Constrained (LOEUF)0.30 Β· top 10%
Genes detectedTENM3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The EGR1-mediated lncRNA TENM3-AS1 potentiates gastric cancer metastasis via reprogramming fatty acid metabolism.
PMID: 40481489
Mol Cancer Β· 2025
1.00
2
GRPR-induced FAM135A expression promote perineural invasion in prostate cancer.
PMID: 41250119
Mol Cancer Β· 2025
0.90
3
Structural Basis of Teneurin-Latrophilin Interaction in Repulsive Guidance of Migrating Neurons.
PMID: 31928845
Cell Β· 2020
0.80
4
Overlap of Genomic and Transcriptomic Genes Identified in Familial Eosinophilic Esophagitis.
PMID: 39914776
Gastroenterology Β· 2025
0.70
5
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.
PMID: 35397152
Mol Genet Genomic Med Β· 2022
0.60