CRYBA4 (crystallin beta A4)

Gene

• Entrez ID: 1413
• Gene name: Crystallin beta A4
• Gene symbol: CRYBA4
• Synonyms: CTRCT23, CYRBA4, MCOPCT4
• 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
rs74315486	T>C	Pathogenic	Coding sequence variant, missense variant
rs74315487	T>C	Pathogenic	Coding sequence variant, missense variant
rs1114167427	G>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT911165	hsa-miR-3612	CLIP-seq
MIRT911166	hsa-miR-377	CLIP-seq
MIRT911167	hsa-miR-4716-3p	CLIP-seq
MIRT911168	hsa-miR-4723-5p	CLIP-seq
MIRT911169	hsa-miR-5095	CLIP-seq
MIRT911170	hsa-miR-650	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA	21873635
GO:0003674	Function	Molecular_function	ND
GO:0005212	Function	Structural constituent of eye lens	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17662718, 25416956, 25910212, 31254514, 31515488
GO:0005575	Component	Cellular_component	ND
GO:0007601	Process	Visual perception	IBA	21873635
GO:0007601	Process	Visual perception	IMP	16960806
GO:0007601	Process	Visual perception	NAS	8999933
GO:0042802	Function	Identical protein binding	IPI	31254514
GO:0043010	Process	Camera-type eye development	IMP	16960806

Other IDs

• MIM: 123631
• HGNC: 2396
• e!Ensembl: ENSG00000196431

Protein

• UniProt ID: P53673
• Protein name: Beta-crystallin A4 (Beta-A4 crystallin)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 3LWK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	13 → 97	Beta/Gamma crystallin	Domain
  PF00030	Crystall	106 → 194	Beta/Gamma crystallin	Domain

• Sequence:

  MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETVRSLKVLSGAWVGFEHA
  GFQGQQYILERGEYPSWDAWGGNTAYPAERLTSFRPAACANHRDSRLTIFEQENFLGKKG
  ELSDDYPSLQAMGWEGNEVGSFHVHSGAWVCSQFPGYRGFQYVLECDHHSGDYKHFREWG
  SHAPTFQVQSIRRIQQ

• Sequence length: 196

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, CATARACT, MARNER TYPE, Cataract microcornea syndrome, CATARACT 23, MULTIPLE TYPES, Early-onset lamellar 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	20577656, 16960806, 20577656
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 lamellar cataract
Congenital coloboma of iris	Congenital coloboma of iris
Microcornea	Microcornea