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 have calcium ion binding activity. Involved in convergent extension involved in gastrulation; desmosome assembly; and epiboly involved in gastrulation with mouth forming second. Predicted to localize to integral component of membrane and plasma membrane. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular dysplasia 10 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 | 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
|
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