Gene
cryaba
- ID
- ZDB-GENE-991119-2
- Name
- crystallin, alpha B, a
- Symbol
- cryaba Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Enables unfolded protein binding activity. Acts upstream of or within several processes, including heart contraction; maintenance of lens transparency; and myofibril assembly. Located in plasma membrane. Is expressed in several structures, including eye; heart; otic vesicle; presumptive neural retina; and solid lens vesicle. Used to study cataract. Human ortholog(s) of this gene implicated in cataract 16 multiple types; dilated cardiomyopathy 1II; fatal infantile hypertonic myofibrillar myopathy; and myofibrillar myopathy 2. Orthologous to human CRYAB (crystallin alpha B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| adult-onset myofibrillar myopathy 2A | Alliance | Myopathy, myofibrillar, 2A, adult-onset | 608810 |
| cataract 16 multiple types | Alliance | Cataract 16, multiple types | 613763 |
| dilated cardiomyopathy 1II | Alliance | Cardiomyopathy, dilated, 1II | 615184 |
| infantile-onset myofibrillar myopathy-2B | Alliance | Myopathy, myofibrillar, 2B, infantile-onset | 613869 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cataract | cryabaasu2/asu2 | standard conditions | Posner et al., 2024 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002068 | Alpha crystallin/Hsp20 domain |
| Domain | IPR003090 | Alpha-crystallin, N-terminal |
| Family | IPR001436 | Alpha crystallin/Small heat shock protein, animal type |
| Family | IPR055269 | Alpha crystallin/Heat shock protein Hsp-16.1/Hsp-16.2 |
| Homologous_superfamily | IPR008978 | HSP20-like chaperone |
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha crystallin/Heat shock protein Hsp-16.1/Hsp-16.2 | Alpha crystallin/Hsp20 domain | Alpha-crystallin, N-terminal | Alpha crystallin/Small heat shock protein, animal type | HSP20-like chaperone |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q9PUR2 | InterPro | 168 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cryaba-201
(1)
|
Ensembl | 1,335 nt |
Interactions and Pathways
No data available
Plasmids