CRYBB3 (crystallin beta B3)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1417
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin beta B3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYBB3
Synonyms (NCBI Gene) Gene synonyms aliases
CATCN2, CRYB3, CTRCT22
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.23
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 vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells l
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs74315490 G>A,C Pathogenic 3 prime UTR variant, coding sequence variant, missense variant
rs587777601 T>A Pathogenic 3 prime UTR variant, coding sequence variant, missense variant
rs864309700 T>C Likely-pathogenic Stop lost, 3 prime UTR variant, terminator codon variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IBA
GO:0005212 Function Structural constituent of eye lens IBA
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 32296183, 32814053, 33961781
GO:0007601 Process Visual perception IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123630 2400 ENSG00000100053
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID P26998
Protein name Beta-crystallin B3 (Beta-B3 crystallin) [Cleaved into: Beta-crystallin B3, N-terminally processed]
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 3QK3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 25 → 107 Beta/Gamma crystallin Domain
PF00030 Crystall 115 → 197 Beta/Gamma crystallin Domain
Sequence
Sequence length 211
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 SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 22 multiple types, Developmental cataract rs74315490, rs587777601, rs864309700 N/A
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 18587492, 27307692, 33594837, 33923544, 34356085
Cerulean cataract Associate 8812489
Genetic Diseases Inborn Associate 28418495
Microphthalmos Associate 34356085