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CRYGC (crystallin gamma C)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1420
Gene nameGene Name - the full gene name approved by the HGNC.
Crystallin gamma C
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CRYGC
SynonymsGene synonyms aliases
CCL, CRYG3, CTRCT2
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.3
SummarySummary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT016711 hsa-miR-335-5p Microarray 18185580
MIRT028758 hsa-miR-26b-5p Microarray 19088304
Transcription factors
Transcription factor Regulation Reference
HSF4 Unknown 19250318
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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:0005212 Function Structural constituent of eye lens NAS 12507494
GO:0005515 Function Protein binding IPI 11700327, 12601044, 16303126, 32296183
GO:0005634 Component Nucleus IDA 16303126
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
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
Sequence
Sequence length 174
Interactions View interactions
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, 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
Microphthalmos Microphthalmos rs794726862, rs1329285216
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Unknown
Disease name Disease term dbSNP ID References
Cataract-microcornea syndrome Cataract-microcornea syndrome
Congenital cataract Congenital cataract 26694549
Congenital coloboma of iris Congenital coloboma of iris
Microcornea Microcornea

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