TSPEAR Gene Summary [Human]
This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | TSPEAR |
| Official Name | thrombospondin type laminin G domain and EAR repeats [Source:HGNC Symbol;Acc:HGNC:1268] |
| Ensembl ID | ENSG00000175894 |
| Bio databases IDs | |
| Aliases | thrombospondin type laminin G domain and EAR repeats |
| Synonyms | C21orf29, C330046G03Rik, DFNB98, ECTD14, ORF65, RGD1563108, STHAG10, thrombospondin-type laminin G domain and EAR repeats, Tnep1 |
| 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 TSPEAR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LamG
- EPTP domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
- colorectal cancer
- selective tooth agenesis type 10
- suicide attempt
- familial nonsyndromic hearing impairment
- hair/tooth type ectodermal dysplasia 14 with or without hypohidrosis
- hair/tooth type ectodermal dysplasia type 14 without hypohidrosis
- hereditary disorder
- organismal death
- autosomal recessive deafness type 98
- male pattern hair loss
regulated by
role in cell
- proliferation
- invasion by
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cilia
- cell surface
- stereocilia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TSPEAR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- Notch signaling pathway
- signal transduction
- regulation of Notch signaling pathway
- hair cycle process
- tooth mineralization
Cellular Component
Where in the cell the gene product is active
- cilium membrane
- stereocilium
- extracellular region
- cell surface