Gene
sptbn2
- ID
- ZDB-GENE-030131-787
- Name
- spectrin, beta, non-erythrocytic 2
- Symbol
- sptbn2 Nomenclature History
- Previous Names
-
- fb48h06
- si:dkey-99p10.2
- wu:fb48h06
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity and phospholipid binding activity. Predicted to be involved in actin filament capping. Predicted to localize to spectrin. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 14 and spinocerebellar ataxia type 5. Orthologous to human SPTBN2 (spectrin beta, non-erythrocytic 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Sánchez et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 14 | Alliance | Spinocerebellar ataxia, autosomal recessive 14 | 615386 |
| spinocerebellar ataxia type 5 | Alliance | Spinocerebellar ataxia 5 | 600224 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001605 | Pleckstrin homology domain, spectrin-type |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR041681 | Pleckstrin homology domain 9 |
| Family | IPR016343 | Spectrin, beta subunit |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | PH-like domain superfamily | Pleckstrin homology domain | Pleckstrin homology domain 9 | Pleckstrin homology domain, spectrin-type | Spectrin/alpha-actinin | Spectrin, beta subunit | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BCP3
|
2389 | ||||||||||
|
UniProtKB:A0A8M9PXP3
|
2206 | ||||||||||
|
UniProtKB:A0A8M9PK72
|
2355 | ||||||||||
|
UniProtKB:A0A8M2BCL2
|
2372 | ||||||||||
|
UniProtKB:F1QXB0
|
2391 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
sptbn2-202
(1)
|
Havana | 7436 nt |
Interactions and Pathways
No data available
Plasmids
No data available