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MIRAGE
thrombospondin type laminin G domain and EAR repeats
Summary
- Gene Symbol
-
- TSPEAR
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cell projection
- Disease variant
- Ectodermal dysplasia
- Glycoprotein
- Hearing
- Non-syndromic deafness
- Proteomics identification
- Reference proteome
- Repeat
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8WU66 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| signal transduction | ||
| Notch signaling pathway | ||
| sensory perception of sound | ||
| regulation of Notch signaling pathway | ||
| hair cycle process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| cell surface | ||
| stereocilium | ||
| ciliary membrane |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- thrombospondin type laminin G domain and EAR repeats
- Functional Category
-
- G: Carbohydrate transport and metabolism
- I: Lipid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
| InterPro |
|---|
| Concanavalin A-like lectin/glucanase domain superfamily |
| EAR |
| Leucine-rich glioma-inactivated , EPTP repeat |
| Thrombospondin-like, N-terminal domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050591 | tooth agenesis | |
| DOID:0110540 | autosomal recessive nonsyndromic deafness 98 | |
| DOID:0111662 | ectodermal dysplasia 14 |
