Gene
CRYAB
crystallin alpha B
- HGNC 2389↗(opens in a new tab)
- Ensembl gene ENSG00000109846↗(opens in a new tab)
- NCBI Gene 1410↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q23.1
- Coordinates
- Chromosome 11: 111,908,564–111,911,770 (GRCh38)
- Exons
- 3 exons across 3.2 kb
- Protein
- 175 amino acids
- Also known as
- HSPB5
- Previous symbols
- CRYA2
- MANE Select transcript
- ENST00000650687.2NM_001289808.2
- 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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Get my Genome TestCurated reports relevant to this gene
Distal Myopathies
- Distal myopathy
A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.
- 2 GenCC submitters rate it definitive or strong
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.
- 1 GenCC submitter rates 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.
Myofibrillar Myopathies
- Myofibrillar myopathy
A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.
How CRYAB is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 0.8 kb of the gene's 3.2 kb; 528 of those bases code for the protein.
How a genome test reads CRYAB
13
positions in CRYAB 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 3.2 kb of CRYAB, introns included, not only the 0.8 kb of exons.
Genes linked to the same conditions
- FLNCfilamin CShares 2 conditions
- LDB3LIM domain binding 3Shares 2 conditions
- MYOTmyotilinShares 2 conditions
- TTNtitinShares 2 conditions
- UNC45Bunc-45 myosin chaperone BShares 2 conditions
- ADSS1adenylosuccinate synthase 1Shares 1 condition
- ANO5anoctamin 5Shares 1 condition
- BAG3BAG cochaperone 3Shares 1 condition
- BFSP1beaded filament structural protein 1Shares 1 condition
- CHMP4Bcharged multivesicular body protein 4BShares 1 condition
- CRYBA1crystallin beta A1Shares 1 condition
- CRYBA2crystallin beta A2Shares 1 condition
Traits linked to CRYAB
The Human Phenotype Ontology lists these as features of the rare conditions CRYAB can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Increased left ventricular end-diastolic volume
- Mitral regurgitation
- Moderately reduced left ventricular ejection fraction
- Stretched and thinned heart muscle
- Ventricular tachycardia
- Left ventricular systolic dysfunction
- Abnormal heart rate
- Cardiac failure
Show 1 more trait
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.). CRYAB gene: crystallin alpha B. Retrieved 16 October 2026, from https://dantelabs.com/genes/cryab
Dante Labs. CRYAB gene: crystallin alpha B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cryab
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