TSPEAR

Chr 21q22.3

thrombospondin type laminin G domain and EAR repeats

Aliases:: MGC11251, TSP-EAR
MANE:: ENST00000323084.9

OMIM: 612920 ↗NCBI: 54084 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TSPEAR · Q8WU66

v62025-08-01

Predicted Aligned Error matrix for TSPEAR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.9/ 100

Confident

669 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)25%
Low(50–70)5%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia without a known gene mutation
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

autosomal recessive hypohidrotic ectodermal dysplasia
0.77
tooth agenesis, selective, 10
0.73
autosomal recessive nonsyndromic hearing loss 98
0.68
deafness
0.52
hereditary disease
0.47
ectodermal dysplasia syndrome
0.30
atrial fibrillation
0.21
Pain
0.18
alcohol drinking
0.18
Hearing impairment
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Thrombospondin-type laminin G domain and EAR repeat-containing protein

Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063)