ZFIN is now using GRCz12tu for Genomic Data
Gene
syne1b
- ID
- ZDB-GENE-071218-4
- Name
- spectrin repeat containing, nuclear envelope 1b
- Symbol
- syne1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable actin binding activity and identical protein binding activity. Acts upstream of or within heart development. Predicted to be located in cytoskeleton; nuclear outer membrane; and sarcomere. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita (multiple); bipolar disorder; cerebellar ataxia (multiple); and muscular dystrophy (multiple). Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Haskell et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arthrogryposis multiplex congenita-3 | Alliance | Arthrogryposis multiplex congenita 3, myogenic type | 618484 |
| autosomal dominant Emery-Dreifuss muscular dystrophy 4 | Alliance | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 612998 |
| autosomal recessive spinocerebellar ataxia 8 | Alliance | Spinocerebellar ataxia, autosomal recessive 8 | 610743 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | KASH domain | Nesprin-1/2 domain | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6Z1N5 | InterPro | 8804 | ||||
| UniProtKB:A0A8M3AR55 | InterPro | 8816 | ||||
| UniProtKB:A0A8M6YT86 | InterPro | 8805 | ||||
| UniProtKB:A0A8M3B265 | InterPro | 8798 | ||||
| UniProtKB:A0A8M6Z2C7 | InterPro | 8815 | ||||
| UniProtKB:A0A8M3AIP9 | InterPro | 8775 | ||||
| UniProtKB:A0AB32T7Q1 | InterPro | 3766 | ||||
| UniProtKB:A0AB32T7W5 | InterPro | 8784 | ||||
| UniProtKB:A0AB32TBB6 | InterPro | 3788 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
syne1b-201
(1)
|
Ensembl | 26,133 nt | ||
| mRNA |
syne1b-202
(1)
|
Ensembl | 27,036 nt | ||
| mRNA |
syne1b-203
(1)
|
Ensembl | 870 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers