CRYBG2
Crystallin Beta-Gamma Domain Containing 2
Gene Information Card
| Symbol | CRYBG2 |
|---|---|
| Full Name | crystallin beta-gamma domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 116254 ncbi.nlm.nih.gov/gene/116254 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q8N5W9 |
| OMIM ID | 614079 |
| HGNC ID | 28478 |
| Aliases | AIM1, CRYBG2, FLJ10324 |
Description
CRYBG2 (crystallin beta-gamma domain containing 2) is a protein-coding gene located on chromosome 1q25.3. It encodes a protein containing beta-gamma crystallin domains, which are typically involved in lens structure but may also have roles in cell adhesion and signaling. The gene is also known as AIM1 (absent in melanoma 1) and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Loss of CRYBG2 expression may contribute to melanoma progression; potential tumor suppressor role. | ClinVar, COSMIC |
| Cataract | Mutations in crystallin domain genes can cause lens opacification; direct evidence for CRYBG2 limited. | OMIM |
| Colorectal cancer | Altered CRYBG2 expression observed in some colorectal tumors; mechanism unclear. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.1 | Low expression |
| A549 | 7.5 | Low expression |
| MCF7 | 5.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | 0.01% (gnomAD) | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | missense | 0.005% (gnomAD) | Possibly damaging (in silico) |
| c.412_413insA | frameshift | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of protein function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CRYBG2.
Dominant Negative (DN)
Not reported for CRYBG2.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of eye lens | • cell adhesion |
| • protein homodimerization activity |
Pathways
• Crystallin-related pathways
• Cell adhesion and migration
Protein Summary
The CRYBG2 protein contains beta-gamma crystallin domains, which are typically involved in lens transparency and refractive index. It may also play roles in cell adhesion and tumor suppression, particularly in melanoma. The protein is expressed in various tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYBG2 Knockout HEK293 Cell Line | EDJ-KQ13008 | Human | 55057 | Details Get a Quote |
| CRYBG2 Knockout A-549 Cell Line | EDJ-KQ42267 | Human | 55057 | Details Get a Quote |
| CRYBG2 Knockout HCT 116 Cell Line | EDJ-KQ42268 | Human | 55057 | Details Get a Quote |
| CRYBG2 Knockout HeLa Cell Line | EDJ-KQ56527 | Human | 55057 | Details Get a Quote |
