CRYAA (crystallin alpha A)

Gene

• Entrez ID: 1409
• Gene name: Crystallin alpha A
• Gene symbol: CRYAA
• Synonyms (NCBI Gene): CRYA1, CTRCT9, HSPB4
• Disease Acronyms (UniProt): CTRCT9
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of th

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025225	hsa-miR-34a-5p	Proteomics	21566225
MIRT025225	hsa-miR-34a-5p	Proteomics	21566225
MIRT025225	hsa-miR-34a-5p	Proteomics	21566225
MIRT030179	hsa-miR-26b-5p	Microarray	19088304
MIRT732894	hsa-miR-551b-3p	Western blotting, qRT-PCR	32835529
MIRT911153	hsa-miR-1304	CLIP-seq
MIRT911154	hsa-miR-1915	CLIP-seq
MIRT911155	hsa-miR-214	CLIP-seq
MIRT911156	hsa-miR-219-1-3p	CLIP-seq
MIRT911157	hsa-miR-3197	CLIP-seq
MIRT911158	hsa-miR-3619-5p	CLIP-seq
MIRT911159	hsa-miR-4291	CLIP-seq
MIRT911160	hsa-miR-4755-3p	CLIP-seq
MIRT911161	hsa-miR-566	CLIP-seq
MIRT911162	hsa-miR-761	CLIP-seq
MIRT911163	hsa-miR-922	CLIP-seq
MIRT911164	hsa-miR-939	CLIP-seq
MIRT2206128	hsa-miR-1205	CLIP-seq
MIRT2206129	hsa-miR-1909	CLIP-seq
MIRT911164	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IDA	16303126
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	11700327, 12235146, 12601044, 14752512, 19651604, 22085609, 22153508, 23188086, 25416956, 25910212, 29892012, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	19464326
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	14752512, 19464326
GO:0005829	Component	Cytosol	IDA
GO:0007601	Process	Visual perception	IMP	9467006, 14512969, 18587492
GO:0032387	Process	Negative regulation of intracellular transport	IDA	14752512
GO:0032991	Component	Protein-containing complex	IDA	16303126
GO:0042026	Process	Protein refolding	ISS
GO:0042802	Function	Identical protein binding	IPI	12601044, 16303126, 19651604, 22085609, 25416956, 32296183
GO:0043066	Process	Negative regulation of apoptotic process	IDA	14752512
GO:0043066	Process	Negative regulation of apoptotic process	IMP	14512969
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IMP	12235146
GO:0050896	Process	Response to stimulus	IEA
GO:0051082	Function	Unfolded protein binding	IMP	18407550
GO:0051082	Function	Unfolded protein binding	IPI	8943244

Other IDs

• MIM: 123580
• HGNC: 2388
• e!Ensembl: ENSG00000160202

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases	rs869025224	21850155
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Cataract	Cataract, Nuclear cataract, Pseudoaphakia, Nuclear non-senile cataract, CATARACT, ANTERIOR POLAR, CATARACT, AUTOSOMAL DOMINANT, Cataract microcornea syndrome, Cataract, Autosomal Recessive Congenital 1, Early-onset lamellar cataract, Early-onset anterior polar 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	9467006, 24074001, 24384146, 19390652, 22065922, 14512969, 20079887, 17296897, 11123904, 22045060, 23508780, 18085469, 18302245, 16453125, 18407550, 10684623, 22216983, 19182255, 22347476, 22140512, 17724170, 16735993, 19503744, 21686328, 21612679
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
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 term	Disease name	Evidence	References	Source
Microcornea	cataract - microcornea syndrome			GenCC
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
AIDS Related Complex	Associate	28755661
Anterior segment mesenchymal dysgenesis	Associate	32791987
Axial osteomalacia	Associate	21686328
Capsule Opacification	Associate	28640093
Cataract	Associate	16862070, 18587492, 19390652, 20029648, 21686328, 22065922, 23288997, 23441109, 25729975, 26004348, 26867756, 26984531, 28640093, 28839118, 29259299, 29914532, 30340470, 31523120, 34304179, 36161833, 38216115
Cataract Age Related Nuclear	Associate	19595763, 26984531, 27507241, 28146420, 28755661, 30286462
Cataract Autosomal Dominant	Associate	29259299
Cataract Autosomal Dominant Nuclear	Associate	19390652, 28146420, 33243271
Cataract microcornea syndrome	Associate	16735993, 21686328, 23441109, 28640093, 32791987
Cataract Nuclear Progressive	Associate	28755661
Corneal Opacity	Associate	28640093
Iris Diseases	Associate	32791987
Left Right Axis Malformations	Associate	28640093
Machado Joseph Disease	Associate	25729975
Microcephaly Retinitis Pigmentosa and Sutural Cataract	Associate	23288997
Microphthalmos	Associate	30340470
Multiple Pterygium Syndrome Autosomal Dominant	Associate	23288997
Myopia	Associate	21686328, 24312600, 32010934
Nystagmus Pathologic	Associate	28640093