Gene
syne2a
- ID
- ZDB-GENE-041001-109
- Name
- spectrin repeat containing, nuclear envelope 2a
- Symbol
- syne2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Involved in nuclear migration and photoreceptor cell maintenance. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 5. Is expressed in eye and eye photoreceptor cell. Orthologous to human SYNE2 (spectrin repeat containing nuclear envelope protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7155910 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Del Bene et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant Emery-Dreifuss muscular dystrophy 5 | Alliance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 612999 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | KASH domain | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9P2X4
|
7150 | ||||||
|
UniProtKB:A0A8M9PT07
|
1615 | ||||||
|
UniProtKB:A0A8M9PPV8
|
7180 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
si:ch211-207i1.2-201
(1)
|
Havana | 3002 nt | |
| mRNA |
si:ch211-207i1.2-202
(1)
|
Havana | 774 nt | |
| mRNA |
si:ch211-207i1.2-203
(1)
|
Havana | 23719 nt | |
| mRNA |
si:ch211-207i1.2-204
(1)
|
Havana | 27998 nt |
Interactions and Pathways
No data available
Plasmids
No data available