TSPEAR
Chr 21ARthrombospondin type laminin G domain and EAR repeats
Also known as: C21orf29, DFNB98, ECTD14, STHAG10, TSP-EAR
TSPEAR encodes a protein containing a thrombospondin-type laminin G domain that regulates Notch signaling during tooth and hair follicle morphogenesis and may function in auditory system development. Mutations cause autosomal recessive deafness-98, ectodermal dysplasia with abnormalities of hair, teeth, and nails, and selective tooth agenesis. The gene follows autosomal recessive inheritance and primarily affects ectodermal-derived structures including the inner ear, teeth, hair, and nails.
Primary Disease Associations & Inheritance
Disputed — evidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
332 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 4 | 0 | 35 | 0 | 39 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 1 | 238 | 4 | 0 | 243 |
Likely Benign | 0 | 25 | 4 | 9 | 38 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 6 | 263 | 44 | 9 | 322 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSPEAR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools