Gene

cryaba

ID
ZDB-GENE-991119-2
Name
crystallin, alpha B, a
Symbol
cryaba Nomenclature History
Previous Names
  • cryab
  • hspb5 (1)
  • hspb5a (1)
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; myofibril assembly; and skeletal muscle tissue development. Located in plasma membrane. Is expressed in several structures, including eye; heart; otic vesicle; presumptive neural retina; and solid lens vesicle. 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
Expression
All Expression Data
20 figures from 13 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cryaba Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
cataract 16 multiple types Alliance Cataract 16, multiple types 613763
dilated cardiomyopathy 1II Alliance Cardiomyopathy, dilated, 1II 615184
fatal infantile hypertonic myofibrillar myopathy Alliance Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 613869
myofibrillar myopathy 2 Alliance Myopathy, myofibrillar, 2 608810
Associated With cryaba Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Homologous_superfamily IPR008978 HSP20-like chaperone
Domain Details Per Protein
Protein Length Alpha crystallin/Hsp20 domain Alpha-crystallin, N-terminal Alpha crystallin/Small heat shock protein, animal type HSP20-like chaperone
UniProtKB:Q9PUR2 168
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations