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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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
CRYBB2-related disorder	Pathogenic	rs74315489	RCV003398538
Developmental cataract	Likely pathogenic; Pathogenic	rs864309683, rs886041410, rs74315489	RCV000203398 RCV000490791 RCV000490780

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs864309697	-

Associations from Text Mining
Disease Name	Relationship Type	References
Bantu siderosis	Stimulate	34083737
Breast Neoplasms	Associate	26109344
Breast Neoplasms	Stimulate	30706176, 39838415
Cataract	Associate	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
Cataract Autosomal Dominant	Associate	19649175, 22312185, 29259299
Cataract microcornea syndrome	Associate	37076855
Cerulean cataract	Associate	29395391, 8812489
Colorectal Neoplasms	Associate	22276153
Exfoliation Syndrome	Stimulate	30842085
Hereditary macular coloboma	Associate	29386872
Lens Diseases	Associate	18449377
Microphthalmos	Associate	37076855
Neoplasm Metastasis	Associate	21800289
Neoplasms	Associate	25964531, 26109344, 39838415
Neurofibromatosis 2	Associate	1496982
Prostatic Neoplasms	Associate	25964531
Triple Negative Breast Neoplasms	Associate	39838415
Vitelliform Macular Dystrophy	Associate	37076855