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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract	Pathogenic	rs1432148373	RCV002282971
Cataract 22 multiple types	Pathogenic; Likely pathogenic	rs587777601, rs199791142, rs74315490	RCV000132765 RCV002838462 RCV000018457
Developmental cataract	Likely pathogenic; Pathogenic	rs864309700, rs74315490	RCV000203319 RCV000203352
Microphthalmia	Pathogenic	rs1432148373	RCV002282971

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs147831812	RCV005897525
Colorectal cancer	Benign; Likely benign	rs17670506	RCV005892677
Congenital nuclear cataract	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs17670506, rs9608378, rs13055430, rs2269672, rs144842183, rs147831812, rs79515519	RCV000263766 RCV000318939 RCV000260093 RCV000340029 RCV000388450 RCV000305024 RCV000384941
CRYBB3-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs558451033, rs201028562, rs147328317, rs139487214	RCV003924059 RCV003943963 RCV003431088 RCV004755960
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs17670506, rs147831812	RCV005892678 RCV005897526
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs17670506, rs147831812	RCV005892674 RCV005897524
Malignant tumor of esophagus	Benign; Likely benign	rs17670506	RCV005892675
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs17670506	RCV005892676
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs147831812	RCV005897527
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs147831812	RCV005897528
Uterine carcinosarcoma	Benign; Likely benign	rs17670506	RCV005892679
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs17670506	RCV005892680

Associations from Text Mining
Disease Name	Relationship Type	References
Cataract	Associate	18587492, 27307692, 33594837, 33923544, 34356085
Cerulean cataract	Associate	8812489
Genetic Diseases Inborn	Associate	28418495
Microphthalmos	Associate	34356085