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 enable actin filament binding activity. Acts upstream of or within actin filament organization and epiboly. Predicted to be located in membrane and nuclear envelope. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Is expressed in several structures, including axis; neural keel; primary neurons; shield; and tail bud. 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
-
- 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