Gene
syne2b
- ID
- ZDB-GENE-071218-5
- Name
- spectrin repeat containing, nuclear envelope 2b
- Symbol
- syne2b Nomenclature History
- Previous Names
-
- id:ibd5137
- si:dkey-249p9.3
- si:dkeyp-77c8.2
- si:dkeyp-77c8.3
- si:dkeyp-77c8.4
- si:dkeyp-77c8.5
- wu:fc12c11 (1)
- wu:fc31e06
- wu:fc62a06
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity. 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 heart; neural keel; primary neuron hindbrain; primary neurons; and shield. Orthologous to human SYNE2 (spectrin repeat containing nuclear envelope protein 2).
- Genome Resources
-
- Alliance (1)
- Gene:559348 (1)
- VEGA:OTTDARG00000029594 (1)
- VEGA:OTTDARG00000029598 (1)
- VEGA:OTTDARG00000029603 (1)
- VEGA:OTTDARG00000029607 (1)
- VEGA:OTTDARG00000029608 (1)
- Ensembl(GRCz11):ENSDARG00000053484 (2)
- Ensembl(GRCz11):ENSDARG00000092369 (1)
- Ensembl(GRCz11):ENSDARG00000093000 (1)
- Ensembl(GRCz11):ENSDARG00000093025 (1)
- Ensembl(GRCz11):ENSDARG00000095514 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Li et al., 2021
- 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:A0A8M9QG37
|
9807 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:dkeyp-77c8.2-201
(1)
|
Ensembl | 343 nt | ||
| mRNA |
si:dkeyp-77c8.3-201
(1)
|
Ensembl | 538 nt | ||
| mRNA |
si:dkeyp-77c8.4-201
(1)
|
Ensembl | 434 nt | ||
| mRNA |
si:dkeyp-77c8.5-201
(1)
|
Ensembl | 409 nt | ||
| mRNA |
syne2b-201
(1)
|
Ensembl | 816 nt | ||
| mRNA |
syne2b-202
(1)
|
Ensembl | 6,121 nt | ||
| mRNA |
syne2b-203
(1)
|
Ensembl | 621 nt | ||
| mRNA |
syne2b-204
(1)
|
Ensembl | 506 nt | ||
| mRNA |
syne2b-205
(1)
|
Ensembl | 841 nt | ||
| mRNA |
syne2b-206
(1)
|
Ensembl | 755 nt | ||
| mRNA |
syne2b-207
(1)
|
Ensembl | 2,253 nt |
Interactions and Pathways
No data available
Plasmids
No data available