CRYBA1 (crystallin beta A1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1411
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin beta A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYBA1
Synonyms (NCBI Gene) Gene synonyms aliases
CRYB1, CTRCT10
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
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(6)
SNP ID Visualize variation Clinical significance Consequence
rs775038545 G>A,C,T Likely-pathogenic Splice donor variant
rs786205628 AGAG>-,AG Uncertain-significance, likely-pathogenic Coding sequence variant, frameshift variant
rs1064797219 GAG>- Likely-pathogenic Coding sequence variant, inframe deletion
rs1264025914 G>A,T Pathogenic Splice donor variant
rs1555547008 GTGGGTATC>- Likely-pathogenic Inframe deletion, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT018067 hsa-miR-335-5p Microarray 18185580
MIRT1970193 hsa-miR-214 CLIP-seq
MIRT1970194 hsa-miR-3143 CLIP-seq
MIRT1970195 hsa-miR-3619-5p CLIP-seq
MIRT1970196 hsa-miR-4291 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(14)
GO ID Ontology Definition Evidence Reference
GO:0001818 Process Negative regulation of cytokine production IEA
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
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
123610 2394 ENSG00000108255
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P05813
Protein name Beta-crystallin A3 [Cleaved into: Beta-crystallin A3, isoform A1, Delta4 form; Beta-crystallin A3, isoform A1, Delta7 form; Beta-crystallin A3, isoform A1, Delta8 form]
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 32 → 116 Beta/Gamma crystallin Domain
PF00030 Crystall 125 → 213 Beta/Gamma crystallin Domain
Sequence
Sequence length 215
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 10 multiple types rs775038545, rs1064797219, rs1555547008, rs1264025914, rs1567671947 N/A
Show/Hide Unknown Diseases (1)
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
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 14693780, 18587492, 20142846, 21139983, 21850182, 22665976, 22919269, 24319337, 29914532, 31488069, 37165913, 38216115, 9788845
Cataract Autosomal Dominant Associate 28120589
Cataract Autosomal Dominant Nuclear Associate 21139983, 22665976, 33243271
Cataract congenital dominant non nuclear Associate 22919269
Cataract Congenital Zonular with Sutural Opacities Associate 9788845
Cataract Nuclear Progressive Associate 21686330, 22665976
Chromosome Aberrations Associate 21686330
Esotropia Associate 31488069
Leukemia Promyelocytic Acute Associate 2491776
Male sterility due to Y chromosome deletions Associate 21850182