Gene
adamtsl4
- ID
- ZDB-GENE-070815-2
- Name
- ADAMTS-like 4
- Symbol
- adamtsl4 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to be located in extracellular region. Human ortholog(s) of this gene implicated in autosomal recessive isolated ectopia lentis 2 and ectopia lentis with ectopia of pupil. Orthologous to human ADAMTSL4 (ADAMTS like 4).
- Genome Resources
-
- Alliance (1)
- Gene:100333903 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Tevar et al., 2024
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive isolated ectopia lentis 2 | Alliance | Ectopia lentis, isolated, autosomal recessive | 225100 |
| ectopia lentis with ectopia of pupil | Alliance | Ectopia lentis et pupillae | 225200 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR010294 | ADAMTS/ADAMTS-like, Spacer 1 |
| Domain | IPR010909 | PLAC |
| Domain | IPR045371 | ADAMTS/ADAMTS-like, cysteine-rich domain 3 |
| Family | IPR050439 | ADAMTS and ADAMTS-like |
| Homologous_superfamily | IPR036383 | Thrombospondin type-1 (TSP1) repeat superfamily |
| Repeat | IPR000884 | Thrombospondin type-1 (TSP1) repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | ADAMTS/ADAMTS-like, cysteine-rich domain 3 | ADAMTS/ADAMTS-like, Spacer 1 | ADAMTS and ADAMTS-like | PLAC | Thrombospondin type-1 (TSP1) repeat | Thrombospondin type-1 (TSP1) repeat superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9P832 | InterPro | 1047 | ||||||
| UniProtKB:A0A8M9NZG4 | InterPro | 1089 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance