CRYGC (crystallin gamma C)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1420 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Crystallin gamma C |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CRYGC |
SynonymsGene synonyms aliases
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CCL, CRYG3, CTRCT2 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q33.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present i |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
HSF4 |
Unknown |
19250318 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P07315 |
Protein name |
Gamma-crystallin C (Gamma-C-crystallin) (Gamma-crystallin 2-1) (Gamma-crystallin 3) |
Protein function |
Crystallins are the dominant structural components of the vertebrate eye lens. |
PDB |
2NBR
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00030 |
Crystall |
3 → 82 |
Beta/Gamma crystallin |
Domain |
PF00030 |
Crystall |
89 → 170 |
Beta/Gamma crystallin |
Domain |
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Sequence |
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Sequence length |
174 |
Interactions |
View interactions |
Associated diseases
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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, AUTOSOMAL DOMINANT, Cataract microcornea syndrome, CATARACT 2, MULTIPLE TYPES, Early-onset lamellar cataract, 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 |
10914683, 11773036, 24384146, 18618005, 18618005, 24384146, 23954869, 10914683, 28298635, 19204787, 10914683, 23954869, 10914683, 22876111, 19204787, 10914683, 22052681, 18587492, 22876111, 10521291, 12011157, 12601044, 24281366 |
Corneal dystrophy |
Corneal dystrophy |
rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878 |
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Microphthalmos |
Microphthalmos |
rs794726862, rs1329285216 |
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Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
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Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cataract-microcornea syndrome |
Cataract-microcornea syndrome |
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Congenital cataract |
Congenital cataract |
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26694549 |
Congenital coloboma of iris |
Congenital coloboma of iris |
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Microcornea |
Microcornea |
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Pulverulent cataract |
Pulverulent cataract |
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