CRYBB2 (crystallin beta B2)

Gene

• Entrez ID: 1415
• Gene name: Crystallin beta B2
• Gene symbol: CRYBB2
• Synonyms (NCBI Gene): CCA2, CRYB2, CRYB2A, CTRCT3, D22S665
• Chromosome: 22
• Chromosome location: 22q11.23
• Summary: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells l

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315489	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs147344332	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs864309683	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs864309697	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs864309698	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041410	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555888762	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555889308	T>G	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0005198	Function	Structural molecule activity	NAS	8224918
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9158139
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16319073, 17662718
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEA

Other IDs

• MIM: 123620
• HGNC: 2398
• e!Ensembl: ENSG00000244752

Protein

• UniProt ID: P43320
• Protein name: Beta-crystallin B2 (Beta-B2 crystallin) (Beta-crystallin Bp)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 1YTQ, 7K7U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	18 → 100	Beta/Gamma crystallin	Domain
  PF00030	Crystall	108 → 190	Beta/Gamma crystallin	Domain

• Sequence:

  MASDHQTQAGKPQSLNPKIIIFEQENFQGHSHELNGPCPNLKETGVEKAGSVLVQAGPWV
  GYEQANCKGEQFVFEKGEYPRWDSWTSSRRTDSLSSLRPIKVDSQEHKIILYENPNFTGK
  KMEIIDDDVPSFHAHGYQEKVSSVRVQSGTWVGYQYPGYRGLQYLLEKGDYKDSSDFGAP
  HPQVQSVRRIRDMQWHQRGAFHPSN

• Sequence length: 205

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cataract 3 multiple types	Likely pathogenic; Pathogenic	rs2146095454, rs763268420, rs2517858504, rs2517857101, rs864309698, rs886041410, rs74315489, rs745938679, rs1555889308, rs1555888762, rs1935496594	RCV001580383 RCV001580617 RCV002287290 RCV002466935 RCV000531121 RCV000688533 RCV000018458 RCV000018462 RCV000546156 RCV000531609 RCV001224685	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRYBB2-related disorder	Pathogenic	rs74315489	RCV003398538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Likely pathogenic; Pathogenic	rs864309683, rs886041410, rs74315489	RCV000203398 RCV000490791 RCV000490780	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT - MICROCORNEA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 3 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 3, MULTIPLE TYPE S	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT MICROCORNEA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL, CERULEAN TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL, CERULEAN TYPE, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, PULVERULENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT-MICROCORNEA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR SUBCAPSULAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SUTURAL CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	20565250		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	21850155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26109344	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30706176, 39838415	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11857735, 15452067, 16179907, 17653036, 18449377, 18617901, 19262743, 19321936, 24312286, 24704203, 29725372, 30219234, 30291584		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	15889016, 16179907, 17653036, 18449377, 18587492, 19649175, 21031021, 21245961, 21264232, 22312185, 23236454, 25489230, 28839118, 29259299, 29386872, 29395391, 31523120, 32883240, 33494148, 33594837, 34014271, 34304179, 37076855, 37165913, 37238733, 38216115	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	LHGDN	16179907, 17653036, 18449377		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT 2, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	8812489		★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	19649175, 22312185, 29259299	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract	ORPHANET_DG	21402992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	37076855	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, AUTOSOMAL DOMINANT	Cataract	BEFREE	17234267, 22312185, 22846113, 29395391		★☆☆☆☆ Found in Text Mining only
Cataract, Central Saccular, With Sutural Opacities	Cataract	ORPHANET_DG	11424921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, cerulean type 1	Cataract	BEFREE	19321936, 29395391, 9158139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, cerulean type 1	Cataract	ORPHANET_DG	19321936, 9158139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, cerulean type 1	Cataract	CTD_human_DG	9158139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, cerulean type 1	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital, Cerulean Type, 2	Cataract	CLINVAR_DG	24120835, 24704203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital, Cerulean Type, 2	Cataract	GENOMICS_ENGLAND_DG	29386872, 8812489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital, Cerulean Type, 2	Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	10634616		★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	ORPHANET_DG	10634616		★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	21031021		★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	ORPHANET_DG	10634616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract-microcornea syndrome	Cataract-microcornea syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerulean cataract	Cataract	Orphanet			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22276153	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	15452067, 16179907, 17653036, 18449377, 19321936, 19649175, 21245961, 21402992, 22312185, 23236454, 29259299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29142067		★☆☆☆☆ Found in Text Mining only
Congenital total cataract	Congenital Cataract	ORPHANET_DG	21031021		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	20565250		★☆☆☆☆ Found in Text Mining only
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset posterior subcapsular cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset sutural cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	30842085		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28384305		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25964531		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	21402992		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	16960806		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	37076855	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1384671, 25964531, 26109344		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	1496982		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	1496982	Associate	★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	15452067		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	19649175, 24384146		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	15452067		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	19649175, 24384146		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	21245961		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25964531		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25964531	Associate	★☆☆☆☆ Found in Text Mining only
Pulverulent cataract	Pulverulent Cataract	Orphanet			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	7669732		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30291584		★☆☆☆☆ Found in Text Mining only
Sutural cataract	Sutural cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Total early-onset cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39838415	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	CTD_human_DG	19578012, 21850155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitelliform Macular Dystrophy	Vitelliform macular dystrophy	Pubtator	37076855	Associate	★☆☆☆☆ Found in Text Mining only