CRYBB1 (crystallin beta B1)

Gene

• Entrez ID: 1414
• Gene name: Crystallin beta B1
• Gene symbol: CRYBB1
• Synonyms: CATCN3, CTRCT17
• Chromosome: 22
• Chromosome location: 22q12.1
• 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
rs74315488	C>A	Pathogenic	Stop gained, coding sequence variant
rs1114167432	A>G	Pathogenic	Terminator codon variant, stop lost
rs1569203234	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT911171	hsa-miR-296-3p	CLIP-seq
MIRT911172	hsa-miR-3154	CLIP-seq
MIRT911173	hsa-miR-3185	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA	21873635
GO:0005212	Function	Structural constituent of eye lens	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17662718, 21044950, 21516116, 25416956, 25910212, 31254514, 32296183
GO:0007601	Process	Visual perception	IBA	21873635

Other IDs

• MIM: 600929
• HGNC: 2397
• e!Ensembl: ENSG00000100122

Protein

• UniProt ID: P53674
• Protein name: Beta-crystallin B1 (Beta-B1 crystallin)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 1OKI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	60 → 142	Beta/Gamma crystallin	Domain
  PF00030	Crystall	150 → 232	Beta/Gamma crystallin	Domain

• Sequence:

  MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYR
  LVVFELENFQGRRAEFSGECSNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGE
  YPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFKGNTIEIQGDDAPSLWVYGFS
  DRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
  GSFPVLATEPPK

• Sequence length: 252

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, Embryonal nuclear cataract (disorder), Nuclear cataract, Pseudoaphakia, Nuclear non-senile cataract, Cataract, Pulverulent, CATARACT, COPPOCK-LIKE, Cataract microcornea syndrome, CATARACT 17, MULTIPLE TYPES, Early-onset nuclear 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	12360425, 18432316, 17460281, 24384146, 12360425, 22267527, 19461930, 19461930, 22267527, 12360425, 16110300, 21972112, 23508780, 12360425, 29386872, 17460281
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, Cataract, Congenital Nuclear, Autosomal Recessive 3		26694549
Congenital coloboma of iris	Congenital coloboma of iris
Microcornea	Microcornea
Pulverulent cataract	Pulverulent cataract