CRYBB2 (crystallin beta B2)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1415
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin beta B2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYBB2
Synonyms (NCBI Gene) Gene synonyms aliases
CCA2, CRYB2, CRYB2A, CTRCT3, D22S665
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(8)
SNP ID Visualize variation Clinical significance Consequence
rs74315489 C>T Likely-pathogenic, pathogenic Stop gained, coding sequence variant
rs147344332 T>G Likely-pathogenic Coding sequence variant, missense variant
rs864309683 T>C Likely-pathogenic Missense variant, coding sequence variant
rs864309697 C>A Likely-pathogenic Missense variant, coding sequence variant
rs864309698 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence 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(13)
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IBA
GO:0005198 Function Structural molecule activity NAS 8224918
GO:0005212 Function Structural constituent of eye lens IBA
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005515 Function Protein binding IPI 32296183
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
123620 2398 ENSG00000244752
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID P43320
Protein name Beta-crystallin B2 (Beta-B2 crystallin) (Beta-crystallin Bp)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 1YTQ , 7K7U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 18 → 100 Beta/Gamma crystallin Domain
PF00030 Crystall 108 → 190 Beta/Gamma crystallin Domain
Sequence
Sequence length 205
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 3 multiple types, Developmental cataract rs74315489, rs745938679, rs864309698, rs864309683, rs886041410, rs1555889308, rs1555888762 N/A
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bantu siderosis Stimulate 34083737
Breast Neoplasms Associate 26109344
Breast Neoplasms Stimulate 30706176, 39838415
Cataract Associate 15889016, 16179907, 17653036, 18449377, 18587492, 19649175, 21031021, 21245961, 21264232, 22312185, 23236454, 25489230, 28839118, 29259299, 29386872
View all (11 more)
Cataract Autosomal Dominant Associate 19649175, 22312185, 29259299
Cataract microcornea syndrome Associate 37076855
Cerulean cataract Associate 29395391, 8812489
Colorectal Neoplasms Associate 22276153
Exfoliation Syndrome Stimulate 30842085
Hereditary macular coloboma Associate 29386872