InnateDB Protein
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IDBP-79694.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CRYGD
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Protein Name
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crystallin, gamma D
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Synonyms
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CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4; PCC;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000264376
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InnateDB Gene
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IDBG-79692 (CRYGD)
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Protein Structure
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Function |
Crystallins are the dominant structural components of the vertebrate eye lens.
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Subcellular Localization |
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Disease Associations |
Cataract 4, multiple types (CTRCT4) [MIM:115700]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. {ECO:0000269PubMed:10521291, ECO:0000269PubMed:10915766, ECO:0000269PubMed:12011157, ECO:0000269PubMed:12676897, ECO:0000269PubMed:16943771, ECO:0000269PubMed:17564961, ECO:0000269PubMed:21031598, ECO:0000269PubMed:9927684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001064
Beta/gamma crystallin
IPR011024
Gamma-crystallin-related
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PFAM |
PF00030
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PRINTS |
PR01367
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PIRSF |
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SMART |
SM00247
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TIGRFAMs |
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Modification |
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SwissProt |
P07320
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PhosphoSite |
PhosphoSite-P07320
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1421
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UniGene |
Hs.546247
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RefSeq |
NP_008822
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HUGO |
HGNC:2411
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OMIM |
123690
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CCDS |
CCDS2378
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HPRD |
00436
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IMGT |
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EMBL |
AC093698
BC117338
BC117340
K03005
K03006
U66583
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GenPept |
AAA52112
AAB38686
AAI17339
AAI17341
AAY24041
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