CRYBA2 (crystallin beta A2)

2014-11-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
CTRCT42
FUSION GENES

Other Information

Locus ID:

NCBI: 1412
MIM: 600836
HGNC: 2395
Ensembl: ENSG00000163499

Variants:

dbSNP: 1412
ClinVar: 1412
TCGA: ENSG00000163499
COSMIC: CRYBA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163499ENST00000295728P53672
ENSG00000163499ENST00000295728A0A024R429
ENSG00000163499ENST00000392096P53672
ENSG00000163499ENST00000392096A0A024R429
ENSG00000163499ENST00000453769C9JDH2

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
374384462023A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.0
374384462023A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.0
234969652013Cell stress molecules in the skeletal muscle of GNE myopathy.8
235087802013Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.45
234969652013Cell stress molecules in the skeletal muscle of GNE myopathy.8
235087802013Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.45
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28

Citation

Dessen P

CRYBA2 (crystallin beta A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62102/cryba2-(crystallin-beta-a2)