Gene
sptb
- ID
- ZDB-GENE-000906-1
- Name
- spectrin, beta, erythrocytic
- Symbol
- sptb Nomenclature History
- Previous Names
-
- b-spectrin (1)
- fa09g12
- riesling
- ris
- wu:fa09g12
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within embryonic hemopoiesis and erythrocyte development. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be part of spectrin. Predicted to be active in several cellular components, including cell junction; cortical actin cytoskeleton; and plasma membrane. Is expressed in intermediate cell mass of mesoderm. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 2. Orthologous to human SPTB (spectrin beta, erythrocytic).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spherocytosis type 2 | Alliance | Spherocytosis, type 2 | 616649 |
| Anemia, neonatal hemolytic, fatal or near-fatal | 617948 | ||
| Elliptocytosis-3 | 617948 |
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:A0A8M2B5B6
|
2481 | ||||||||||
|
UniProtKB:F1QQE5
|
2357 | ||||||||||
|
UniProtKB:Q9DGM6
|
2357 |
Interactions and Pathways
No data available
Plasmids
No data available