TENM3 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | TENM3 |
| Official Name | teneurin transmembrane protein 3 [Source:HGNC Symbol;Acc:HGNC:29944] |
| Ensembl ID | ENSG00000218336 |
| Bio databases IDs | |
| Aliases | teneurin transmembrane protein 3 |
| Synonyms | 2610100B16RIK, AK052496, LOC100361541, LOC103693952, LOC105377574, LOC108348297, LOC108348461, MCOPCB9, MCOPS15, mKIAA1455, Odz1, ODZ3, TEN3, teneurin transmembrane protein 3, TNM3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TENM3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- RHS repeat-associated core domain
- Furin-like cysteine rich region
- Human growth factor-like EGF
- Keratin, high sulfur B2 protein
- protein binding
- NHL repeat unit of beta-propeller proteins
- identical protein binding
- Family of unknown function (DUF5885)
- EGF_CA
- GHH signature containing HNH/Endo VII superfamily nuclease toxin
- Delta serrate ligand
- YD repeat (two copies)
- protein homodimerization
- Teneurin Intracellular Region
- RHS Repeat
- protein heterodimerization
- Tenascin EGF domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- COVID-19
- schizophrenia
- tinnitus
- asthma
- pemphigus vulgaris
- neurotic disorder
- dementia
- idiopathic scoliosis
- syndromic microphthalmia
role in cell
- development
- adhesion
- innervation
- stabilization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- cellular membrane
- presynaptic membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TENM3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- camera-type eye morphogenesis
- signal transduction
- heterophilic cell-cell adhesion
- positive regulation of neuron projection development
- homophilic cell adhesion
- neuron development
Cellular Component
Where in the cell the gene product is active
- membrane
- neuron projection
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein heterodimerization activity
- cell adhesion molecule binding