Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

7 Show/Hide all (7)

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

MIM	HGNC	e!Ensembl
600836	2395	ENSG00000163499

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

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
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	23508780, 28450710	★★★★★ ★★☆☆☆ 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	38062574	★★★★★ ★★☆☆☆ 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	23508780, 23508780	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	23508780, 23508780	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30297969, 32541925, 38062574	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (11)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CRYBB3	4	["Cataract","Congenital cataract","Anterior polar cataract","Nuclear cataract"]	[]	9	["GWAS catalog (Cataract)","Disgenet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","GWAS catalog (Anterior polar cataract)","Orphanet (Anterior polar cataract)","GWAS catalog (Nuclear cataract)","Orphanet (Nuclear cataract)"]
FYCO1	3	["Cataract","Congenital cataract","Nuclear cataract"]	[]	6	["GWAS catalog (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","GWAS catalog (Nuclear cataract)","Orphanet (Nuclear cataract)"]
CRYGB	3	["Cataract","Congenital cataract","Anterior polar cataract"]	[]	8	["GWAS catalog (Cataract)","CTD (Cataract)","Disgenet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","GWAS catalog (Anterior polar cataract)","Orphanet (Anterior polar cataract)"]
CRYBB1	3	["Cataract","Congenital cataract","Nuclear cataract"]	[]	8	["GWAS catalog (Cataract)","CTD (Cataract)","Disgenet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","GWAS catalog (Nuclear cataract)","Orphanet (Nuclear cataract)"]
CRYGC	3	["Cataract","Congenital cataract","Nuclear cataract"]	[]	8	["GWAS catalog (Cataract)","CTD (Cataract)","Disgenet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","GWAS catalog (Nuclear cataract)","Orphanet (Nuclear cataract)"]

CRYBA2 (crystallin beta A2)

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