CRYBB1 (crystallin beta B1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 1414
Gene name Crystallin beta B1
Gene symbol CRYBB1
Synonyms (NCBI Gene)
CATCN3CTRCT17
Chromosome 22
Chromosome location 22q12.1
Summary 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.
3
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.
3
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600929 2397 ENSG00000100122
Protein Protein information from UniProt database.
Gene SNPs 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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataract 17 Likely pathogenic; Pathogenic rs1064793935 RCV001254599
Cataract 17 multiple types Likely pathogenic; Pathogenic rs752315498, rs2518949706, rs74315488, rs575368335, rs1929354169, rs1064793935, rs1114167433, rs1569203234 RCV002237200
RCV004548308
RCV000009224
RCV003509038
RCV003990190
RCV000009225
RCV000490646
RCV000696435
Developmental cataract Likely pathogenic rs864309682 RCV000203364
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CRYBB1-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs748025775, rs372169881, rs142495368, rs200292741, rs760235124, rs77431464 RCV003911259
RCV003418549
RCV003910338
RCV003957758
RCV003963088
RCV003953532
Hepatocellular carcinoma Uncertain significance rs760235124 RCV005913893
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease 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