CRYBB3 (crystallin beta B3)

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Gene Gene information from NCBI Gene database.
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Entrez ID 1417
Gene name Crystallin beta B3
Gene symbol CRYBB3
Synonyms (NCBI Gene)
CATCN2CRYB3CTRCT22
Chromosome 22
Chromosome location 22q11.23
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
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6 Show/Hide all (6)
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
123630 2400 ENSG00000100053
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 115 → 197 Beta/Gamma crystallin Domain
PF00030 Crystall 25 → 107 Beta/Gamma crystallin Domain
Sequence 
MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQ
VESGPWLAFESRAFRGEQFVLEKGDYPRWDAWSNSRDSDSLLSLRPLNIDSPHHKLHLFE
NPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVGYEFPGYRGRQYVFERGEYRH
WNEWDASQPQLQSVRRIRDQKWHKRGRFPSS
Sequence length 211
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cataract Pathogenic rs1432148373 RCV002282971
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 22 multiple types Pathogenic; Likely pathogenic rs587777601, rs199791142, rs74315490 RCV000132765
RCV002838462
RCV000018457
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract Likely pathogenic; Pathogenic rs864309700, rs74315490 RCV000203319
RCV000203352
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia Pathogenic rs1432148373 RCV002282971
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (23)
Phenotype Name Clinical Significance Source Reference Evidence Score
CATARACT 22 MULTIPLE TYPE S — ClinVar, GWAS catalog 15914629, 19182255, 23508780, 27326458
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT 22, MULTIPLE TYPE S — HPO 15914629,19182255,23508780,27326458
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT, ANTERIOR POLAR — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 — CTD, Disgenet
CTD, Disgenet 		—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (20)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cataract Cataract LHGDN 15914629
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract Cataract Pubtator 18587492, 27307692, 33594837, 33923544, 34356085 Associate
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract Cataract BEFREE 19262743, 21873656, 27307692
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CATARACT, ANTERIOR POLAR Cataract ORPHANET_DG 23508780
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2 Congenital Cataract UNIPROT_DG 15914629, 23508780
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2 Congenital Cataract GENOMICS_ENGLAND_DG 15914629
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2 Congenital Cataract CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2 Congenital Cataract CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital cataract Congenital Cataract BEFREE 15914629, 27326458
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital cataract Congenital Cataract CLINVAR_DG 26694549
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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CRYBA2 4 shared diseasesCataract, Congenital cataract, Anterior polar cataract, Nuclear cataract 9 shared evidence sourcesGWAS catalog (Cataract), Disgenet (Cataract), ClinVar (Cataract), HPO (Cataract), Disgenet (Congenital cataract), GWAS catalog (Anterior polar cataract), Orphanet (Anterior polar cataract), GWAS catalog (Nuclear cataract), Orphanet (Nuclear cataract) Related via 4 shared diseases including Cataract, Congenital cataract — evidence mostly GWAS catalog. FYCO1 3 shared diseasesCataract, Congenital cataract, Nuclear cataract 7 shared evidence sourcesGWAS catalog (Cataract), ClinVar (Cataract), HPO (Cataract), Disgenet (Congenital cataract), CTD (Congenital cataract), GWAS catalog (Nuclear cataract), Orphanet (Nuclear cataract) Related via 3 shared diseases including Cataract, Congenital cataract — evidence mostly GWAS catalog. BFSP1 3 shared diseasesCataract, Congenital cataract, Nuclear cataract 8 shared evidence sourcesGWAS catalog (Cataract), Disgenet (Cataract), ClinVar (Cataract), HPO (Cataract), Disgenet (Congenital cataract), CTD (Congenital cataract), GWAS catalog (Nuclear cataract), Orphanet (Nuclear cataract) Related via 3 shared diseases including Cataract, Congenital cataract — evidence mostly GWAS catalog. CRYBB1 3 shared diseasesCataract, Congenital cataract, Nuclear cataract 8 shared evidence sourcesGWAS catalog (Cataract), Disgenet (Cataract), ClinVar (Cataract), HPO (Cataract), Disgenet (Congenital cataract), CTD (Congenital cataract), GWAS catalog (Nuclear cataract), Orphanet (Nuclear cataract) Related via 3 shared diseases including Cataract, Congenital cataract — evidence mostly GWAS catalog. CRYGC 3 shared diseasesCataract, Congenital cataract, Nuclear cataract 8 shared evidence sourcesGWAS catalog (Cataract), Disgenet (Cataract), ClinVar (Cataract), HPO (Cataract), Disgenet (Congenital cataract), CTD (Congenital cataract), GWAS catalog (Nuclear cataract), Orphanet (Nuclear cataract) Related via 3 shared diseases including Cataract, Congenital cataract — evidence mostly GWAS catalog.
Major depressive disorder Linked via 2 of 5 related genesFYCO1, CRYBB1 Cataract-microcornea syndrome Linked via 2 of 5 related genesCRYBB1, CRYGC Coronary artery disease Linked via 1 of 5 related genesCRYBA2 Diabetes mellitus type 2 Linked via 1 of 5 related genesCRYBA2 Congenital total cataract Linked via 1 of 5 related genesFYCO1