CRYBG1
Crystallin Beta-Gamma Domain Containing 1
Gene Information Card
| Symbol | CRYBG1 |
|---|---|
| Full Name | Crystallin Beta-Gamma Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 202 ncbi.nlm.nih.gov/gene/202 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9Y6H1 |
| OMIM ID | 123630 |
| HGNC ID | 2409 |
| Aliases | AIM1, CRYBG1, beta-gamma crystallin domain containing 1 |
Description
CRYBG1 (Crystallin Beta-Gamma Domain Containing 1) is a protein-coding gene located on chromosome 6q21. It encodes a protein containing beta-gamma crystallin domains, which are typically involved in lens structure but this gene is expressed in various tissues. The gene has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Altered expression and mutations may contribute to tumorigenesis | COSMIC, ClinVar |
| Breast Cancer | Mutations and copy number alterations observed | COSMIC |
| Colorectal Cancer | Somatic mutations reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 15.2 | Medium |
| Breast | 8.5 | Low |
| Colon | 12.1 | Medium |
| Testis | 20.3 | High |
| Brain | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 | 18.4 | Lung cancer cell line |
| MCF7 | 10.2 | Breast cancer cell line |
| HCT116 | 14.7 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.5% | p.Arg412Cys |
| c.567delA | frameshift | 0.1% | p.Lys189fs |
| c.890G>A | nonsense | 0.05% | p.Trp297* |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of function.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
No evidence currently.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of eye lens | • protein binding |
Pathways
• Crystallin-related pathways
Protein Summary
The CRYBG1 protein contains beta-gamma crystallin domains and is involved in structural roles in the lens, but also expressed in non-lens tissues where it may participate in cell adhesion and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYBG1 Knockout HEK293 Cell Line | EDJ-KQ4036 | Human | 202 | Details Get a Quote |
| CRYBG1 Knockout HCT 116 Cell Line | EDJ-KQ26384 | Human | 202 | Details Get a Quote |
| CRYBG1 Knockout HeLa Cell Line | EDJ-KQ52587 | Human | 202 | Details Get a Quote |
| CRYBG1 Knockout A-549 Cell Line | EDJ-KQ61065 | Human | 202 | Details Get a Quote |
