ZFIN is now using GRCz12tu for Genomic Data
Gene
dsc2l
- ID
- ZDB-GENE-031116-55
- Name
- desmocollin 2 like
- Symbol
- dsc2l Nomenclature History
- Previous Names
-
- Dsc (1)
- sb:cb859
- wu:fa94h05
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calcium ion binding activity. Involved in heart morphogenesis. Acts upstream of or within several processes, including desmosome assembly; gastrulation; and heart contraction. Predicted to be located in plasma membrane. Predicted to be active in desmosome. Is expressed in several structures, including EVL; cardiovascular system; ectoderm; peripheral olfactory organ; and pronephric duct. Used to study arrhythmogenic right ventricular cardiomyopathy. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 11; and hypotrichosis. Orthologous to several human genes including DSC2 (desmocollin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb859 (10 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 11 | Alliance | Arrhythmogenic right ventricular dysplasia 11 | 610476 |
| arrhythmogenic right ventricular dysplasia 11 | Alliance | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair | 610476 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020894 | Cadherin conserved site |
| Domain | IPR000233 | Cadherin, Y-type LIR-motif |
| Domain | IPR002126 | Cadherin-like |
| Domain | IPR014868 | Cadherin prodomain |
| Family | IPR009122 | Desmosomal cadherin |
| Family | IPR039808 | Cadherin |
| Homologous_superfamily | IPR015919 | Cadherin-like superfamily |
| Homologous_superfamily | IPR027397 | Catenin binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cadherin | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily | Cadherin prodomain | Cadherin, Y-type LIR-motif | Catenin binding domain superfamily | Desmosomal cadherin |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QSQ0 | InterPro | 934 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers