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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CRYBA2
crystallin beta A2
Chromosome 2 · 2q35
NCBI Gene: 1412Ensembl: ENSG00000163499.13HGNC: HGNC:2395UniProt: P53672
16PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingstructural constituent of eye lenslens development in camera-type eyevisual perceptioncataractcataract 42early-onset anterior polar cataractearly-onset nuclear cataract
✦AI Summary

CRYBA2 encodes β-crystallin A2, a structural protein that serves as a dominant component of the vertebrate eye lens 1. The protein belongs to the β/γ-crystallin superfamily and is characterized by four Greek key motifs, with each motif encoded by individual exons 1. CRYBA2 is localized on human chromosome 2-q36 and plays a critical role in lens development and transparency 2. The gene exhibits high expression during early lens development, as demonstrated in zebrafish models 3. Multiple studies have identified CRYBA2 mutations as causative factors in autosomal dominant congenital cataracts, including missense mutations such as p.Val50Met, p.Tyr75His, and p.Tyr153His 345. These mutations can cause structural destabilization of the βA2-crystallin protein, disrupting hydrogen bond formation and leading to lens opacity 5. The gene shows reduced expression in cataract-related conditions and age-related lens degeneration 67. Clinically, CRYBA2 mutations are associated with Cataract 42 and represent a significant cause of hereditary cataracts, highlighting its importance as a candidate gene for genetic screening in congenital and presenile cataract cases 23.

Sources cited
1
CRYBA2 encodes a structural protein of the vertebrate eye lens and belongs to the β/γ-crystallin superfamily with four Greek key motifs
PMID: 19007775
2
CRYBA2 is localized on human chromosome 2q34-q36 and is a candidate gene for hereditary cataract
PMID: 7490092
3
CRYBA2 is expressed during early lens development and mutations cause autosomal dominant congenital cataracts
PMID: 23508780
4
Novel missense mutation p.Tyr75His in CRYBA2 causes autosomal dominant congenital bilateral cataract
PMID: 38909969
5
Missense mutation p.Tyr153His disrupts protein structure and causes presenile cataract
PMID: 37438446
6
CRYBA2 shows reduced expression in cataract-related lens defects
PMID: 37048143
7
CRYBA2 expression is downregulated in age-related cataract models
PMID: 39019784
Disease Associationsⓘ21
cataractOpen Targets
0.51Moderate
cataract 42Open Targets
0.41Moderate
early-onset anterior polar cataractOpen Targets
0.41Moderate
early-onset nuclear cataractOpen Targets
0.40Weak
Anterior polar cataractOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
coronary artery diseaseOpen Targets
0.15Weak
essential hypertensionOpen Targets
0.14Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.11Weak
Cataract-microcornea syndromeOpen Targets
0.11Weak
early-onset zonular cataractOpen Targets
0.10Weak
Partial congenital cataractOpen Targets
0.10Suggestive
pulverulent cataractOpen Targets
0.10Suggestive
cataract 13 with adult I phenotypeOpen Targets
0.09Suggestive
cataract 38Open Targets
0.09Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.09Suggestive
isolated ectopia lentisOpen Targets
0.09Suggestive
Posterior polar cataractOpen Targets
0.09Suggestive
cataract 35Open Targets
0.08Suggestive
Cataract 42UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CRYGNShared pathway100%CRYBG3Shared pathway100%CRYGCShared pathway100%CRYGBShared pathway100%CRYBB1Shared pathway100%BFSP1Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
7%
Ovary
0%
Liver
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CRYBA2CRYGNCRYBG3CRYGCCRYGBCRYBB1BFSP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P53672
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.66–1.37]
RankingsWhere CRYBA2 stands among ~20K protein-coding genes
  • #15,236of 20,598
    Most Researched16
  • #14,306of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedCRYBA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1.
PMID: 7490092
Genomics · 1995
1.00
2
A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract.
PMID: 38909969
Gene · 2024
0.90
3
Genetics of crystallins: cataract and beyond.
PMID: 19007775
Exp Eye Res · 2009
0.80
4
High-Throughput Transcriptomics of
PMID: 37048143
Cells · 2023
0.70
5
Identification of spontaneous age-related cataract in
PMID: 39019784
Zhong Nan Da Xue Xue Bao Yi Xue Ban · 2024
0.60