Identity
HGNC
LOCATION
22q11.23
LOCUSID
ALIAS
CCA2,CRYB2,CRYB2A,CTRCT3,D22S665
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1415
MIM: 123620
HGNC: 2398
Ensembl: ENSG00000244752
Variants:
dbSNP: 1415
ClinVar: 1415
TCGA: ENSG00000244752
COSMIC: CRYBB2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000244752 | ENST00000398215 | P43320 |
| ENSG00000244752 | ENST00000398215 | R4UMM2 |
| ENSG00000244752 | ENST00000651629 | P43320 |
| ENSG00000244752 | ENST00000651629 | R4UMM2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38924206 | 2024 | Characterization of βB2-crystallin tryptophan mutants reveals two different folding states in solution. | 0 |
| 38924206 | 2024 | Characterization of βB2-crystallin tryptophan mutants reveals two different folding states in solution. | 0 |
| 36905841 | 2023 | Conformational stability of the deamidated and mutated human βB2-crystallin. | 1 |
| 37238733 | 2023 | Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation. | 1 |
| 37379524 | 2023 | ATCUN-like Copper Site in βB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation. | 0 |
| 36905841 | 2023 | Conformational stability of the deamidated and mutated human βB2-crystallin. | 1 |
| 37238733 | 2023 | Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation. | 1 |
| 37379524 | 2023 | ATCUN-like Copper Site in βB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation. | 0 |
| 32498547 | 2021 | A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family. | 5 |
| 33246011 | 2021 | βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif. | 8 |
| 34341513 | 2021 | CRYβB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer. | 4 |
| 32498547 | 2021 | A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family. | 5 |
| 33246011 | 2021 | βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif. | 8 |
| 34341513 | 2021 | CRYβB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer. | 4 |
| 32317624 | 2020 | Polymorphisms in CRYBB2 encoding βB2-crystallin are associated with antisaccade performance and memory function. | 2 |
Citation
Dessen P
CRYBB2 (crystallin beta B2)
Atlas Genet Cytogenet Oncol Haematol. 2015-08-01
Online version: http://atlasgeneticsoncology.org/gene/55362/crybb2-(crystallin-beta-b2)
