CRYBB1 (crystallin beta B1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1414
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin beta B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYBB1
Synonyms (NCBI Gene) Gene synonyms aliases
CATCN3, CTRCT17
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
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 miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs74315488 C>A Pathogenic Stop gained, coding sequence variant
rs1114167432 A>G Pathogenic Terminator codon variant, stop lost
rs1569203234 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT911171 hsa-miR-296-3p CLIP-seq
MIRT911172 hsa-miR-3154 CLIP-seq
MIRT911173 hsa-miR-3185 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA 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 17662718, 21044950, 21516116, 25416956, 25910212, 31254514, 32296183
GO:0007601 Process Visual perception IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600929 2397 ENSG00000100122
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P53674
Protein name Beta-crystallin B1 (Beta-B1 crystallin)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 1OKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 60 → 142 Beta/Gamma crystallin Domain
PF00030 Crystall 150 → 232 Beta/Gamma crystallin Domain
Sequence
Sequence length 252
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 miRNA 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 17 multiple types, Developmental cataract rs1569203234, rs74315488, rs864309682, rs1064793935, rs1114167433 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
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Pulverulent Cataract pulverulent cataract N/A N/A GenCC
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 34402193
Cataract Associate 12360425, 16110300, 18432316, 19071118, 21264232, 24319337, 26622071, 27318838, 28272538, 28928627, 29386872, 29914532, 32854469, 33243271, 33594837
View all (2 more)
Cataract Autosomal Dominant Associate 28928627
Cataract microcornea syndrome Associate 16110300, 21972112, 23159606
Cataract Nuclear Progressive Associate 18432316, 27318838
Cataract Pulverulent Associate 19461930, 26622071
Chromosome Aberrations Associate 18432316
Colorectal Neoplasms Associate 25117815
Hereditary macular coloboma Associate 29386872
Neoplastic Syndromes Hereditary Associate 23159606