CRYBB2 (crystallin beta B2)

Gene

• Entrez ID: 1415
• Gene name: Crystallin beta B2
• Gene symbol: CRYBB2
• Synonyms: 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	21873635
GO:0005198	Function	Structural molecule activity	NAS	8224918
GO:0005212	Function	Structural constituent of eye lens	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0007601	Process	Visual perception	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	16319073, 17662718
GO:0050896	Process	Response to stimulus	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
Disease name	Disease term	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	21850155
Cataract	Cataract, Cataract, congenital, cerulean type 1, Nuclear cataract, Nuclear non-senile cataract, Cataract, Congenital, Cerulean Type, 2, Cataract, Pulverulent, CATARACT, COPPOCK-LIKE, Cataract, Central Saccular, With Sutural Opacities, Cataract microcornea syndrome, CATARACT 2, MULTIPLE TYPES, Early-onset posterior subcapsular cataract, Cerulean cataract, Early-onset sutural cataract, Early-onset nuclear cataract, Total early-onset cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692	9158139, 19321936, 24384146, 19649175, 29386872, 24704203, 24120835, 8812489, 10634616, 11424921, 21402992, 8812489
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Cataract-microcornea syndrome	Cataract-microcornea syndrome
Congenital cataract	Congenital cataract, Congenital total cataract		26694549, 21031021
Congenital coloboma of iris	Congenital coloboma of iris
Microcornea	Microcornea
Pulverulent cataract	Pulverulent cataract
Sutural cataract	Sutural cataract
Uveitis	Uveitis		19578012, 21850155