CRYBA2 (crystallin beta A2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1412
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin beta A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYBA2
Synonyms (NCBI Gene) Gene synonyms aliases
CTRCT42
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
Summary Summary of gene provided in NCBI Entrez Gene.
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017256 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IBA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005212 Function Structural constituent of eye lens IBA
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005515 Function Protein binding IPI 19060904, 25814554, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600836 2395 ENSG00000163499
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P53672
Protein name Beta-crystallin A2 (Beta-A2 crystallin)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 13 → 98 Beta/Gamma crystallin Domain
PF00030 Crystall 107 → 195 Beta/Gamma crystallin Domain
Sequence
Sequence length 197
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cataract early-onset anterior polar cataract, early-onset nuclear cataract N/A N/A GenCC
Diabetes Type 2 diabetes (adjusted for BMI), Type 2 diabetes, Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 19262743, 28450710, 34014271
Hyperferritinemia hereditary with congenital cataracts Associate 28450710
Pancreatic Neoplasms Associate 33164330