MultifacetedProtDB - Bologna Biocomputing Group

Summary of P43320

Gene: CRYBB2, CRYB2, CRYB2A
Protein: Beta-crystallin B2

Protein family
Protein sequence
Protein function

Catalytic activity

The protein has not catalytic activity

Publications

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
cataract 3 multiple types	MONDO:0011104	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601547	Orphanet:1377
cataract 3 multiple types	MONDO:0011104	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601547	Orphanet:91492
cataract 3 multiple types	MONDO:0011104	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601547	Orphanet:98985
cataract 3 multiple types	MONDO:0011104	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601547	Orphanet:98989
cataract 3 multiple types	MONDO:0011104	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601547	Orphanet:98991
cataract 3 multiple types	MONDO:0011104	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601547	Orphanet:98994
pulverulent cataract	MONDO:0011430	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98984
pulverulent cataract	MONDO:0011430	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98986
pulverulent cataract	MONDO:0011430	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98995
cataract - microcornea syndrome	MONDO:0015300	Q13	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:1377
early-onset posterior subcapsular cataract	MONDO:0018610	H26	chapter7, Diseases of the eye and adnexa		Orphanet:441447
early-onset sutural cataract	MONDO:0020372	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98985
cerulean cataract	MONDO:0020374	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98989
early-onset nuclear cataract	MONDO:0020376	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98991
total early-onset cataract	MONDO:0021548	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98994