CRYGB: Crystallin Gamma B – A Key Structural Protein in the Human Lens
Comprehensive genomic and proteomic overview of CRYGB, its role in cataractogenesis, and clinical significance.
Gene Information Card
| Symbol | CRYGB |
|---|---|
| Full Name | Crystallin Gamma B |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 1419 ncbi.nlm.nih.gov/gene/1419 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | P07316 |
| OMIM ID | 123670 |
| HGNC ID | 2409 |
| Aliases | CRYG2, CTRCT4 |
Description
CRYGB encodes gamma-crystallin B, a member of the beta/gamma-crystallin family. These proteins are major structural components of the vertebrate eye lens, maintaining lens transparency and refractive index. CRYGB is highly expressed in the lens and mutations in this gene are associated with autosomal dominant congenital cataracts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cataract 4, Multiple Types (CTRCT4) | Missense mutations disrupt protein folding and solubility, leading to lens opacification. | ClinVar, OMIM |
| Cataract, Congenital, Autosomal Dominant | Dominant-negative or loss-of-function mutations cause aggregation of crystallins. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | High |
| Retina | Low | Low |
| Brain | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.2 | Low expression |
| HLE-B3 (human lens epithelial) | High | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109G>A (p.Gly37Arg) | Missense | Rare | Dominant cataract |
| c.176C>T (p.Pro59Leu) | Missense | Rare | Dominant cataract |
| c.394G>A (p.Gly132Ser) | Missense | Rare | Dominant cataract |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; most mutations are dominant-negative.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Common mechanism; mutant protein interferes with wild-type crystallin assembly, causing aggregation and cataract.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of eye lens | • protein homodimerization activity |
| • identical protein binding | • lens development in camera-type eye |
| • visual perception |
Pathways
• Crystallin aggregation in cataract
• Lens fiber cell differentiation
Protein Summary
Gamma-crystallin B is a 174-amino acid protein with four Greek key motifs forming two domains. It is highly soluble and stable, contributing to lens transparency. Mutations reduce solubility and promote aggregation, leading to cataract formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYGB Knockout HEK293 Cell Line | EDJ-KQ50210 | Human | 1419 | Details Get a Quote |
| CRYGB Knockout HeLa Cell Line | EDJ-KQ52995 | Human | 1419 | Details Get a Quote |
| CRYGB Knockout A-549 Cell Line | EDJ-KQ61462 | Human | 1419 | Details Get a Quote |
| CRYGB Knockout HCT 116 Cell Line | EDJ-KQ69959 | Human | 1419 | Details Get a Quote |
