CRYBA2 (crystallin beta A2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 1412
Gene name Crystallin beta A2
Gene symbol CRYBA2
Synonyms (NCBI Gene)
CTRCT42
Chromosome 2
Chromosome location 2q35
Summary 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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600836 2395 ENSG00000163499
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CRYBA2-related disorder Uncertain significance; Benign rs200129430, rs371989867, rs77427424 RCV003396936
RCV003408709
RCV003976796
Early-onset anterior polar cataract Uncertain significance rs144661907 RCV005356387
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease 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