Identity
HGNC
LOCATION
22q12.1
LOCUSID
ALIAS
CTRCT23,CYRBA4,MCOPCT4
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: 1413
MIM: 123631
HGNC: 2396
Ensembl: ENSG00000196431
Variants:
dbSNP: 1413
ClinVar: 1413
TCGA: ENSG00000196431
COSMIC: CRYBA4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196431 | ENST00000354760 | P53673 |
| ENSG00000196431 | ENST00000354760 | A0A097PIJ6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35840783 | 2023 | A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family. | 0 |
| 35840783 | 2023 | A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family. | 0 |
| 31935276 | 2020 | In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract. | 7 |
| 31935276 | 2020 | In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract. | 7 |
| 28272538 | 2017 | Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. | 6 |
| 28272538 | 2017 | Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. | 6 |
| 22792142 | 2012 | Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus. | 7 |
| 22792142 | 2012 | Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus. | 7 |
| 20577656 | 2010 | A missense mutation in CRYBA4 associated with congenital cataract and microcornea. | 22 |
| 20577656 | 2010 | A missense mutation in CRYBA4 associated with congenital cataract and microcornea. | 22 |
| 20057906 | 2009 | Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. | 13 |
| 20057906 | 2009 | Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. | 13 |
| 16960806 | 2006 | CRYBA4, a novel human cataract gene, is also involved in microphthalmia. | 52 |
| 16960806 | 2006 | CRYBA4, a novel human cataract gene, is also involved in microphthalmia. | 52 |
Citation
Dessen P
CRYBA4 (crystallin beta A4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62103/cryba4-(crystallin-beta-a4)
