Gene
CRYBB3
crystallin beta B3
- HGNC 2400↗(opens in a new tab)
- Ensembl gene ENSG00000100053↗(opens in a new tab)
- NCBI Gene 1417↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q11.23
- Coordinates
- Chromosome 22: 25,199,858–25,207,359 (GRCh38)
- Exons
- 6 exons across 7.5 kb
- Protein
- 211 amino acids
- Previous symbols
- CRYB3
- MANE Select transcript
- ENST00000215855.7NM_004076.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Congenital & Juvenile Cataract
- Early-Onset Non-Syndromic Cataract
Cataract that appears at birth or early in life without other features, caused by changes in lens genes such as the crystallins (CRYAA, CRYBB2, CRYGD and others), GJA3, GJA8 and MIP.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Early detection and surgery in children help prevent permanent vision loss from amblyopia, and family members can be offered eye checks.
How CRYBB3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.9 kb of the gene's 7.5 kb; 636 of those bases code for the protein.
How a genome test reads CRYBB3
5
positions in CRYBB3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 7.5 kb of CRYBB3, introns included, not only the 0.9 kb of exons.
Genes linked to the same conditions
- BFSP1beaded filament structural protein 1Shares 1 condition
- CHMP4Bcharged multivesicular body protein 4BShares 1 condition
- CRYABcrystallin alpha BShares 1 condition
- CRYBA1crystallin beta A1Shares 1 condition
- CRYBA2crystallin beta A2Shares 1 condition
- CRYBA4crystallin beta A4Shares 1 condition
- CRYBB1crystallin beta B1Shares 1 condition
- CRYGScrystallin gamma SShares 1 condition
- EPHA2EPH receptor A2Shares 1 condition
- GCNT2glucosaminyl (N-acetyl) transferase 2 (I blood group)Shares 1 condition
- GJA3gap junction protein alpha 3Shares 1 condition
- HSF4heat shock transcription factor 4Shares 1 condition
Traits linked to CRYBB3
The Human Phenotype Ontology lists these as features of the rare conditions CRYBB3 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CRYBB3 gene: crystallin beta B3. Retrieved 16 October 2026, from https://dantelabs.com/genes/crybb3
Dante Labs. CRYBB3 gene: crystallin beta B3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/crybb3
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