CRYBB3 (crystallin beta B3)

Gene

• Entrez ID: 1417
• Gene name: Crystallin beta B3
• Gene symbol: CRYBB3
• Synonyms (NCBI Gene): CATCN2, CRYB3, CTRCT22
• 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
rs74315490	G>A,C	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs587777601	T>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs864309700	T>C	Likely-pathogenic	Stop lost, 3 prime UTR variant, terminator codon variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32296183, 32814053, 33961781
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	TAS	8999933

Other IDs

• MIM: 123630
• HGNC: 2400
• e!Ensembl: ENSG00000100053

Protein

• UniProt ID: P26998
• Protein name: Beta-crystallin B3 (Beta-B3 crystallin) [Cleaved into: Beta-crystallin B3, N-terminally processed]
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 3QK3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	25 → 107	Beta/Gamma crystallin	Domain
  PF00030	Crystall	115 → 197	Beta/Gamma crystallin	Domain

• Sequence:

  MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQ
  VESGPWLAFESRAFRGEQFVLEKGDYPRWDAWSNSRDSDSLLSLRPLNIDSPHHKLHLFE
  NPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVGYEFPGYRGRQYVFERGEYRH
  WNEWDASQPQLQSVRRIRDQKWHKRGRFPSS

• Sequence length: 211

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	Pathogenic	rs1432148373	RCV002282971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 22 multiple types	Pathogenic; Likely pathogenic	rs587777601, rs199791142, rs74315490	RCV000132765 RCV002838462 RCV000018457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Likely pathogenic; Pathogenic	rs864309700, rs74315490	RCV000203319 RCV000203352	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia	Pathogenic	rs1432148373	RCV002282971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CATARACT 22 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 22, MULTIPLE TYPE S	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ANTERIOR POLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital nuclear cataract	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYBB3-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ANTERIOR POLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NON-SYNDROMIC CATARACT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMBRYONAL NUCLEAR CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cataract	Cataract	LHGDN	15914629		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract	Cataract	Pubtator	18587492, 27307692, 33594837, 33923544, 34356085	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract	Cataract	BEFREE	19262743, 21873656, 27307692		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CATARACT, ANTERIOR POLAR	Cataract	ORPHANET_DG	23508780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2	Congenital Cataract	GENOMICS_ENGLAND_DG	15914629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2	Congenital Cataract	UNIPROT_DG	15914629, 23508780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2	Congenital Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 2	Congenital Cataract	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	15914629, 27326458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset anterior polar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	34356085	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis 2	Neurofibromatosis	BEFREE	2055112		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	15914629, 23508780		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	15914629, 23508780		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only