CRYBA2 (crystallin beta A2)

Gene

• Entrez ID: 1412
• Gene name: Crystallin beta A2
• Gene symbol: CRYBA2
• Synonyms (NCBI Gene): CTRCT42
• Chromosome: 2
• Chromosome location: 2q35
• Summary: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017256	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	19060904, 25814554, 32296183, 32814053
GO:0007601	Process	Visual perception	IBA
GO:0042802	Function	Identical protein binding	IEA

Other IDs

• MIM: 600836
• HGNC: 2395
• e!Ensembl: ENSG00000163499

Protein

• UniProt ID: P53672
• Protein name: Beta-crystallin A2 (Beta-A2 crystallin)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	13 → 98	Beta/Gamma crystallin	Domain
  PF00030	Crystall	107 → 195	Beta/Gamma crystallin	Domain

• Sequence:

  MSSAPAPGPAPASLTLWDEEDFQGRRCRLLSDCANVCERGGLPRVRSVKVENGVWVAFEY
  PDFQGQQFILEKGDYPRWSAWSGSSSHNSNQLLSFRPVLCANHNDSRVTLFEGDNFQGCK
  FDLVDDYPSLPSMGWASKDVGSLKVSSGAWVAYQYPGYRGYQYVLERDRHSGEFCTYGEL
  GTQAHTGQLQSIRRVQH

• Sequence length: 197

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CATARACT 42	—	CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ANTERIOR POLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYBA2-related disorder	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset anterior polar cataract	Uncertain significance	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cataract	Cataract	Pubtator	19262743, 28450710, 34014271	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT 42	Cataract	UNIPROT_DG	23508780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 42	Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ANTERIOR POLAR	Cataract	ORPHANET_DG	23508780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	23508780, 24940039		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset anterior polar cataract	Cataract	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia hereditary with congenital cataracts	Hyperferritinemia	Pubtator	28450710	Associate	★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	23508780		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	23508780		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33164330	Associate	★☆☆☆☆ Found in Text Mining only