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 anchoring junction and plasma membrane. Predicted to be active in desmosome. Human ortholog(s) of this gene implicated in hypotrichosis (multiple); intrinsic cardiomyopathy (multiple); and keratosis palmoplantaris striata 1. Orthologous to several human genes including 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 |
1 - 2 of 2
Domain, Family, and Site Summary
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 |
1 - 1 of 1
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| ncRNA |
dsg2.1-001
(1)
|
Ensembl | 291 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available