CRYGD (crystallin gamma D)

Gene

• Entrez ID: 1421
• Gene name: Crystallin gamma D
• Gene symbol: CRYGD
• Synonyms: CACA, CCA3, CCP, CRYG4, CTRCT4, PCC, cry-g-D
• Chromosome: 2
• Chromosome location: 2q33.3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2678681	hsa-miR-3653	CLIP-seq
MIRT2678682	hsa-miR-3658	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA	21873635
GO:0002088	Process	Lens development in camera-type eye	ISS
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	8943244, 22289178
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0007601	Process	Visual perception	IBA	21873635
GO:0007601	Process	Visual perception	IMP	9927684, 12011157, 12676897
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	8943244
GO:0070306	Process	Lens fiber cell differentiation	ISS

Other IDs

• MIM: 123690
• HGNC: 2411
• e!Ensembl: ENSG00000118231

Protein

• UniProt ID: P07320
• Protein name: Gamma-crystallin D (Gamma-D-crystallin) (Gamma-crystallin 4)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 1H4A, 1HK0, 2G98, 2KFB, 2KLJ, 4GR7, 4JGF, 6ETA, 6ETC, 6W5B, 6WCY, 7P53, 8BD0, 8BPI, 8Q3L
• 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:

  MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRR
  GDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNE
  IHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS

• Sequence length: 174

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, Cataract, congenital, cerulean type 1, Nuclear cataract, Pseudoaphakia, Nuclear non-senile cataract, Cataract, Pulverulent, CATARACT, COPPOCK-LIKE, CATARACT, AUTOSOMAL DOMINANT, Cataract microcornea syndrome, CATARACT 4, MULTIPLE TYPES, Early-onset lamellar cataract, Cerulean 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	9927684, 30242128, 12676897, 21031598, 26147294, 24384146, 26147294, 24384146, 21031598, 21866214, 9927684, 17724170, 12676897, 10688888, 11371638, 10521291, 12011157, 9927684, 17564961, 15709761, 21031598, 16943771, 10915766
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		26694549
Congenital coloboma of iris	Congenital coloboma of iris
Coralliform cataract	Coralliform cataract		18334953, 21552497
Microcornea	Microcornea
Pulverulent cataract	Pulverulent cataract