TENM1 Gene: Teneurin Transmembrane Protein 1
Essential gene in neural development, cell adhesion, and signaling; implicated in neurodevelopmental disorders and cancers.
Gene Information Card
| Symbol | TENM1 |
|---|---|
| Full Name | Teneurin Transmembrane Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq25 |
| NCBI Gene ID | 10112 ncbi.nlm.nih.gov/gene/10112 |
| Ensembl ID | ENSG00000182389 |
| UniProt ID | Q9UKZ4 |
| OMIM ID | 300588 |
| HGNC ID | 29944 |
| Aliases | TEN-M1, TNM1, ODZ1, ODZ3, KIAA1127 |
Description
TENM1 (Teneurin Transmembrane Protein 1) encodes a large transmembrane protein involved in neuronal development, cell adhesion, and intercellular signaling. It is part of the teneurin family, characterized by EGF-like repeats and a C-terminal domain that can be cleaved and translocated to the nucleus. TENM1 is highly expressed in the brain and plays roles in axon guidance, synapse formation, and regulation of cell migration. Mutations in TENM1 are associated with neurodevelopmental disorders and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and autistic features | Loss-of-function mutations disrupt teneurin-mediated cell adhesion and signaling | ClinVar, OMIM |
| Intellectual disability, X-linked | Hemizygous mutations in males impair synaptic development | OMIM #300588 |
| Glioblastoma | Altered TENM1 expression affects tumor cell adhesion and migration | COSMIC, NCBI |
| Colorectal cancer | Hypermethylation and reduced expression linked to poor prognosis | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Medium |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Neuronal model |
| U87MG (glioblastoma) | 6.4 | Brain tumor line |
| HEK293 (embryonic kidney) | 1.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired protein stability; reported in intellectual disability |
| c.2567_2568del (p.Leu856fs) | Frameshift | Rare | Truncation; loss of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations leading to truncated or absent protein; associated with X-linked intellectual disability and neurodevelopmental phenotypes.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
Not established; heterozygous females may show milder phenotypes due to X-inactivation skewing.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Teneurin signaling pathway
• Cell adhesion molecules (CAMs)
• Axon guidance
Protein Summary
TENM1 is a 2731-amino acid type II transmembrane protein with a large extracellular region containing EGF-like repeats and a C-terminal domain that undergoes proteolytic cleavage. The intracellular domain can translocate to the nucleus and regulate gene expression. It mediates homophilic cell adhesion and interacts with latrophilins to modulate synaptic signaling. The protein is essential for proper brain development and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TENM1 Knockout HEK293 Cell Line | EDJ-KQ6935 | Human | 10178 | Details Get a Quote |
| TENM1 Knockout HeLa Cell Line | EDJ-KQ55336 | Human | 10178 | Details Get a Quote |
| TENM1 Knockout A-549 Cell Line | EDJ-KQ63816 | Human | 10178 | Details Get a Quote |
| TENM1 Knockout HCT 116 Cell Line | EDJ-KQ72278 | Human | 10178 | Details Get a Quote |
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