CRYBA2 (Crystallin Beta A2)
A structural lens protein gene associated with congenital cataracts
Gene Information Card
| Symbol | CRYBA2 |
|---|---|
| Full Name | crystallin beta A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q34 |
| NCBI Gene ID | 1412 ncbi.nlm.nih.gov/gene/1412 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | P12612 |
| OMIM ID | 600836 |
| HGNC ID | 2396 |
| Aliases | betaA2-crystallin, CRYB2 |
Description
CRYBA2 encodes beta A2 crystallin, a structural protein of the vertebrate eye lens. Crystallins are water-soluble proteins that contribute to lens transparency and refractive index. Mutations in CRYBA2 are linked to autosomal dominant congenital cataracts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital cataract (autosomal dominant) | Missense mutations disrupt protein folding and lens transparency | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | Tissue-specific high expression |
| Retina | Low | Detectable but low |
| Other tissues | Not detected | Lens-specific |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not expressed | No detectable nTPM |
| HLE-B3 (human lens epithelial) | High | Model for lens studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259G>A (p.Gly87Arg) | Missense | Rare | Dominant congenital cataract |
| c.296C>T (p.Pro99Leu) | Missense | Rare | Dominant congenital cataract |
Mutation functional classification
Loss of Function (LOF)
Not established; missense mutations likely cause dominant-negative or gain-of-toxic function
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Proposed for p.Gly87Arg and p.Pro99Leu due to disrupted crystallin aggregation
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of eye lens | • protein homodimerization activity |
| • lens development in camera-type eye |
Pathways
• Lens crystallin network
Protein Summary
Beta A2 crystallin (176 amino acids) forms homodimers and heterodimers with other beta-crystallins. It is essential for lens transparency and refractive index maintenance. Mutations cause protein aggregation and cataract formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYBA2 Knockout HEK293 Cell Line | EDJ-KQ4352 | Human | 1412 | Details Get a Quote |
| CRYBA2 Knockout HeLa Cell Line | EDJ-KQ52989 | Human | 1412 | Details Get a Quote |
| CRYBA2 Knockout A-549 Cell Line | EDJ-KQ61456 | Human | 1412 | Details Get a Quote |
| CRYBA2 Knockout HCT 116 Cell Line | EDJ-KQ69953 | Human | 1412 | Details Get a Quote |
