Gene
hspb8
- ID
- ZDB-GENE-030131-2480
- Name
- heat shock protein b8
- Symbol
- hspb8 Nomenclature History
- Previous Names
-
- fc09c11
- wu:fc04b04
- wu:fc09c11
- zgc:64202
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2L and distal hereditary motor neuronopathy type 2A. Is expressed in several structures, including cephalic musculature; immature eye; midbrain hindbrain boundary neural rod; nervous system; and pericardial region. Orthologous to human HSPB8 (heat shock protein family B (small) member 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- 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 dominant distal hereditary motor neuronopathy 2 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 2 | 158590 |
| Charcot-Marie-Tooth disease axonal type 2L | Alliance | Charcot-Marie-Tooth disease, axonal, type 2L | 608673 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002068 | Alpha crystallin/Hsp20 domain |
| Domain | IPR042790 | Heat shock protein beta-8, alpha-crystallin domain (ACD) |
| Family | IPR001436 | Alpha crystallin/Small heat shock protein, animal type |
| Family | IPR043254 | Heat shock protein beta-8 |
| Homologous_superfamily | IPR008978 | HSP20-like chaperone |
Domain Details Per Protein
| Protein | Length | Alpha crystallin/Hsp20 domain | Alpha crystallin/Small heat shock protein, animal type | Heat shock protein beta-8 | Heat shock protein beta-8, alpha-crystallin domain (ACD) | HSP20-like chaperone |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6PFS1
|
216 |
Interactions and Pathways
No data available
Plasmids