Gene
dsg2.1
- ID
- ZDB-GENE-030131-7531
- Name
- desmoglein 2, tandem duplicate 1
- Symbol
- dsg2.1 Nomenclature History
- Previous Names
-
- dsg2
- Dsg alpha (1)
- provisionalck738896
- si:dkeyp-51f12.6
- wu:fj23f02
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within convergent extension involved in gastrulation; desmosome assembly; and epiboly involved in gastrulation with mouth forming second. Predicted to be located in desmosome and plasma membrane. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 10; dilated cardiomyopathy; and dilated cardiomyopathy 1BB. Orthologous to human DSG2 (desmoglein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Goonesinghe et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Goonesinghe et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 10 | Alliance | Arrhythmogenic right ventricular dysplasia 10 | 610193 |
| dilated cardiomyopathy 1BB | Alliance | Cardiomyopathy, dilated, 1BB | 612877 |
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 |
| Family | IPR009122 | Desmosomal cadherin |
| Family | IPR050971 | Cadherin domain-containing protein |
| Homologous_superfamily | IPR015919 | Cadherin-like superfamily |
| Homologous_superfamily | IPR027397 | Catenin binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cadherin conserved site | Cadherin domain-containing protein | Cadherin-like | Cadherin-like superfamily | Cadherin, Y-type LIR-motif | Catenin binding domain superfamily | Desmosomal cadherin |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:H2EQR6 | InterPro | 1142 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| ncRNA |
dsg2.1-001
(1)
|
Ensembl | 291 nt |
Interactions and Pathways
No data available
Plasmids
No data available