ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within nuclear migration and photoreceptor cell maintenance. Predicted to be located in membrane and nucleus. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in cytoplasm and nuclear outer membrane. Is expressed in eye; eye photoreceptor cell; and lateral line. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 5. 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 | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | KASH domain | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9P2X4 | InterPro | 7150 | ||||||
| UniProtKB:A0A8M9PT07 | InterPro | 1615 | ||||||
| UniProtKB:A0A8M9PPV8 | InterPro | 7180 | ||||||
| UniProtKB:A0AB13A3M0 | InterPro | 8835 | ||||||
| UniProtKB:A0AB13A793 | InterPro | 8865 | ||||||
| UniProtKB:A0AB32T817 | InterPro | 8865 | ||||||
| UniProtKB:A0AB32TCB4 | InterPro | 8895 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch211-207i1.2-201
(1)
|
Ensembl | 3,002 nt | ||
| mRNA |
si:ch211-207i1.2-202
(1)
|
Ensembl | 774 nt | ||
| mRNA |
si:ch211-207i1.2-203
(1)
|
Ensembl | 23,719 nt | ||
| mRNA |
si:ch211-207i1.2-204
(1)
|
Ensembl | 27,998 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers