HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CRYBB1
crystallin beta B1
Chromosome 22 Β· 22q12.1
NCBI Gene: 1414Ensembl: ENSG00000100122.8HGNC: HGNC:2397UniProt: P53674
59PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingstructural constituent of eye lenslens development in camera-type eyevisual perceptionearly-onset non-syndromic cataractearly-onset nuclear cataractalcohol drinkingCataract-microcornea syndrome
✦AI Summary

CRYBB1 encodes crystallin beta B1, a major structural protein component of the vertebrate eye lens 1. The gene is located on human chromosome 22.2-q12.1 and is closely linked to other beta crystallin genes 1. CRYBB1 functions as a structural constituent of the eye lens and plays a critical role in lens development and visual perception. The protein exhibits bidirectional transcriptional regulation, with CRYBB1 and the adjacent CRYBA4 gene frequently co-transcribed simultaneously from the same allele during lens fiber cell differentiation 2. Disease-wise, mutations in CRYBB1 cause autosomal dominant and recessive congenital cataracts. Several pathogenic mutations have been identified, including novel missense mutations c.209A>C (p.Q70P) 3, c.279C>G (p.S93R) associated with cataracts and microphthalmia 4, and c.755A>G (p.Lys252Arg) causing autosomal recessive cataracts 5. Interestingly, CRYBB1 expression is upregulated in diabetic retinopathy in males 6, and the gene has been implicated in neurological disorders including schizophrenia 7, suggesting broader roles beyond lens function. These findings establish CRYBB1 as essential for normal lens development and highlight its clinical significance in inherited eye diseases.

Sources cited
1
CRYBB1 gene location on chromosome 22q11.2-q12.1 and linkage to other beta crystallin genes
PMID: 8575764
2
Bidirectional transcriptional regulation with CRYBA4 and simultaneous co-transcription
PMID: 30646012
3
Novel missense mutation c.209A>C (p.Q70P) causing congenital nuclear cataract
PMID: 32223445
4
Novel mutation p.S93R associated with dominant congenital cataracts and microphthalmia
PMID: 31566446
5
Variant c.755A>G (p.Lys252Arg) causing autosomal recessive cataract
PMID: 32854469
6
Upregulated expression in diabetic retinopathy in males
PMID: 39354039
7
Involvement in neurological disorders including schizophrenia
PMID: 26593886
Disease Associationsβ“˜21
early-onset non-syndromic cataractOpen Targets
0.68Moderate
early-onset nuclear cataractOpen Targets
0.60Moderate
alcohol drinkingOpen Targets
0.39Weak
cataract - microcornea syndromeOpen Targets
0.37Weak
Cataract-microcornea syndromeOpen Targets
0.37Weak
pulverulent cataractOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
Developmental cataractOpen Targets
0.29Weak
mathematical abilityOpen Targets
0.26Weak
adverse effectOpen Targets
0.22Weak
infectious arthritisOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
color vision disorderOpen Targets
0.19Weak
Abnormality of the integumentOpen Targets
0.18Weak
aortic diseaseOpen Targets
0.18Weak
male reproductive organ cancerOpen Targets
0.18Weak
Abruptio PlacentaeOpen Targets
0.18Weak
frozen shoulderOpen Targets
0.17Weak
neuroendocrine neoplasmOpen Targets
0.16Weak
drug allergyOpen Targets
0.16Weak
Cataract 17, multiple typesUniProt
Pathogenic Variants14
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)Pathogenic
Cataract 17 multiple types|not provided|Cataract 17
β˜…β˜…β˜†β˜†2025β†’ Residue 58
NM_001887.4(CRYBB1):c.683C>A (p.Ser228Tyr)Likely pathogenic
not provided|Cataract 17 multiple types
β˜…β˜…β˜†β˜†2024β†’ Residue 228
NM_001887.4(CRYBB1):c.576-637_587delPathogenic
Early-onset non-syndromic cataract
β˜…β˜†β˜†β˜†2025
NM_001887.4(CRYBB1):c.601_604del (p.Tyr201fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 201
NM_001887.4(CRYBB1):c.698G>A (p.Arg233His)Likely pathogenic
Cataract 17 multiple types
β˜…β˜†β˜†β˜†2024β†’ Residue 233
NM_001887.4(CRYBB1):c.2T>A (p.Met1Lys)Likely pathogenic
Cataract 17 multiple types
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_001887.4(CRYBB1):c.387C>G (p.Ser129Arg)Likely pathogenic
Cataract 17 multiple types
β˜…β˜†β˜†β˜†2024β†’ Residue 129
NM_001887.4(CRYBB1):c.482del (p.Gly161fs)Likely pathogenic
Cataract 17 multiple types
β˜…β˜†β˜†β˜†2022β†’ Residue 161
NM_001887.4(CRYBB1):c.419G>C (p.Arg140Pro)Likely pathogenic
Cataract 17 multiple types
β˜…β˜†β˜†β˜†2022β†’ Residue 140
NM_001887.4(CRYBB1):c.211G>A (p.Gly71Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 71
NM_001887.4(CRYBB1):c.585del (p.Tyr196fs)Pathogenic
Cataract 17 multiple types
β˜…β˜†β˜†β˜†2018β†’ Residue 196
NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg)Pathogenic
Cataract 17 multiple types
β˜†β˜†β˜†β˜†2017β†’ Residue 129
NM_001887.4(CRYBB1):c.368G>A (p.Arg123His)Likely pathogenic
Developmental cataract
β˜†β˜†β˜†β˜†2015β†’ Residue 123
NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter)Pathogenic
Cataract 17 multiple types
β˜†β˜†β˜†β˜†2002β†’ Residue 220
View on ClinVar β†—
Related Genes
CRYBA2Shared pathway100%CRYGNShared pathway100%CRYBG3Shared pathway100%CRYGSShared pathway100%CRYGCShared pathway100%CRYGBShared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
69%
Heart
23%
Liver
11%
Lung
11%
Ovary
9%
Gene Interaction Network
Click a node to explore
CRYBB1CRYBA2CRYGNCRYBG3CRYGSCRYGCCRYGB
PROTEIN STRUCTURE
Preparing viewer…
PDB1OKI Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.52 [0.35–0.79]
RankingsWhere CRYBB1 stands among ~20K protein-coding genes
  • #7,756of 20,598
    Most Researched59
  • #2,525of 5,498
    Most Pathogenic Variants14
  • #6,515of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCRYBB1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5.
PMID: 8575764
Genomics Β· 1995
1.00
2
Sex differences in the development of experimental diabetic retinopathy.
PMID: 39354039
Sci Rep Β· 2024
0.90
3
Molecular cloning, sequence identification, and tissue expression profile analysis of three novel porcine genes: SDHB, SNRPA and CRYBB1.
PMID: 18360780
Mol Biol Rep Β· 2009
0.80
4
Bidirectional Analysis of Cryba4-Crybb1 Nascent Transcription and Nuclear Accumulation of Crybb3 mRNAs in Lens Fibers.
PMID: 30646012
Invest Ophthalmol Vis Sci Β· 2019
0.70
5
A novel missense mutation of
PMID: 32223445
Eur J Ophthalmol Β· 2021
0.60