TSPEAR Gene
Thrombospondin Type Laminin G Domain and EAR Repeats
Gene Information Card
| Symbol | TSPEAR |
|---|---|
| Full Name | Thrombospondin Type Laminin G Domain and EAR Repeats |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 144568 ncbi.nlm.nih.gov/gene/144568 |
| Ensembl ID | ENSG00000160255 |
| UniProt ID | Q8WU66 |
| OMIM ID | 611279 |
| HGNC ID | 23752 |
| Aliases | C21orf49, DSPEAR, EAR-4, EAR4, TSP-EAR |
Description
TSPEAR encodes a protein containing thrombospondin type-1 repeats and EAR (epithelial growth factor-related) repeats. It is involved in cell adhesion and signaling, and mutations in this gene cause autosomal recessive deafness type 98 (DFNB98).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive deafness 98 (DFNB98) | Loss-of-function mutations in TSPEAR disrupt protein function in inner ear hair cells, leading to sensorineural hearing loss | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.8 | Low |
| Adrenal gland | 2.1 | Low |
| Brain | 1.5 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.2 | Low expression |
| K562 | 0.5 | Not detected |
| HepG2 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133C>T (p.Arg45*) | Nonsense | Rare | Loss of function |
| c.523delC (p.Leu175Trpfs*12) | Frameshift | Rare | Loss of function |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TSPEAR lead to truncated protein or nonsense-mediated decay, causing autosomal recessive deafness DFNB98.
Gain of Function (GOF)
No evidence of gain-of-function mutations in TSPEAR.
Dominant Negative (DN)
No evidence of dominant-negative mutations in TSPEAR.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) |
Pathways
• Not assigned to any canonical pathway in KEGG or Reactome.
Protein Summary
The TSPEAR protein contains thrombospondin type-1 and EAR repeats, suggesting roles in cell-matrix interactions and signaling. It is expressed in the inner ear and is essential for normal hearing. Loss-of-function mutations lead to nonsyndromic hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPEAR Knockout HEK293 Cell Line | EDJ-KQ11386 | Human | 54084 | Details Get a Quote |
| TSPEAR Knockout HeLa Cell Line | EDJ-KQ56393 | Human | 54084 | Details Get a Quote |
| TSPEAR Knockout A-549 Cell Line | EDJ-KQ64886 | Human | 54084 | Details Get a Quote |
| TSPEAR Knockout HCT 116 Cell Line | EDJ-KQ73329 | Human | 54084 | Details Get a Quote |
