Property Summary

NCBI Gene PubMed Count 35
PubMed Score 605.09
PubTator Score 48.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count P-value
subependymal giant cell astrocytoma 2287 2.7e-02
Disease Target Count Z-score Confidence
Cataract 104 4.961 2.5
Disease Target Count Z-score Confidence
Blindness 84 3.642 1.8
Microphthalmia 79 3.277 1.6
Disease Target Count
cataract 20 multiple types 1

Expression

  Differential Expression (1)

Disease log2 FC p
subependymal giant cell astrocytoma 4.044 2.7e-02

Gene RIF (19)

PMID Text
26158710 The data suggest that enhanced attractive protein-protein interactions, arising from the deamidation of HGS, promote protein aggregation, thereby leading to increased light scattering and opacity over time.
24328668 novel mutation (G57W) in CRYGS in this Chinese family is associated with autosomal dominant pulverulent cataract.
24287181 The effects of the V41M mutation on the structural changes of gamma S-crystallin were studied.
23761725 The cataract-associated mutant D26G of human gammaS-crystallin is remarkably close to the wild type molecule in structural features, with only a microenvironmental change in the packing around the mutation site.
23284690 replacement of valine in position 42 by the longer and bulkier methionine in human gammaS-crystallin perturbs the compact beta-sheet core packing topology in the N-terminal domain of the molecule
22995907 age-dependent cleavage of gammaS-crystallin generates a peptide that binds to cell membranes
22858140 A crystallin variant, derived from the C-terminal domain of the eye lens protein human gammaS-crystallin, interacts with the integrase C-terminal domain and inhibits integrase substrate affinity
22593035 The degree of deamidation for Gln92 and Gln170 was found to increase from birth to teen-age years and then to remain constant for four decades.
21866213 Novel mutations in the crystalline genes have been identified in Chinese families with congenital cataracts.
21447408 The presence of significant amounts of small peptides derived from gammaS- and betaB1-crystallins in the water-insoluble fraction of the lens indicates that these interact tightly with cytoskeletal or membrane components.
21244846 Molecular dynamics (MD) simulations, circular dichroism (CD), and dynamic light scattering (DLS) measurements were used to investigate the aggregation propensity of the eye-lens protein gammaS-crystallin.
20621668 Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin.
19558189 Results confirm the high stability of wild-type HgammaS-crystallin and demonstrates that the G18V mutation destabilizes the protein toward heat and GuHCl-induced unfolding.
19358562 Fast charge transfer quenching is an evolved property of the gamma S-crystallin fold, probably protecting it from ultraviolet-induced photodamage.
19262743 report a novel missense mutation, p.V42M, in CRYGS associated with bilateral congenital cataract in a family of Indian origin
17905830 analysis of folding and stability of the isolated Greek key domains of the long-lived human lens proteins gammaD-crystallin and gammaS-crystallin
14763903 when glutathione becomes bound to gammaS-crystallin, it causes it to bind in turn to the beta-crystallin polypeptides to form a dimer
12475213 A lens gamma S-crystallin has been identified with an in vivo modification, S-methylation of cysteine residues, that may block intermolecular disulfide bondng and serve as a form of protection against cataract.
12093281 Deamidation in cataractous lenses is influenced by surface exposure.

AA Sequence

MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMYILPQGEYPEY      1 - 70
QRWMGLNDRLSSCRAVHLPSGGQYKIQIFEKGDFSGQMYETTEDCPSIMEQFHMREIHSCKVLEGVWIFY     71 - 140
ELPNYRGRQYLLDKKEYRKPIDWGAASPAVQSFRRIVE                                    141 - 178
//

Text Mined References (36)

PMID Year Title
26158710 2015 Deamidation of Human ?S-Crystallin Increases Attractive Protein Interactions: Implications for Cataract.
24328668 2015 A G57W Mutation of CRYGS Associated with Autosomal Dominant Pulverulent Cataracts in a Chinese Family.
24287181 2014 The cataract-associated V41M mutant of human ?S-crystallin shows specific structural changes that directly enhance local surface hydrophobicity.
23942779 2013 A genome-wide association study of behavioral disinhibition.
23761725 2013 Structural analysis of the mutant protein D26G of human ?S-crystallin, associated with Coppock cataract.
23284690 2012 The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.
22995907 2012 Degradation of an old human protein: age-dependent cleavage of ?S-crystallin generates a peptide that binds to cell membranes.
22593035 2012 Age-dependent deamidation of glutamine residues in human ?S crystallin: deamidation and unstructured regions.
21866213 2011 Mutation analysis of 12 genes in Chinese families with congenital cataracts.
21447408 2011 Truncation, cross-linking and interaction of crystallins and intermediate filament proteins in the aging human lens.
21244846 2011 Separating instability from aggregation propensity in ?S-crystallin variants.
20621668 2010 Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.
19558189 2009 The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.
19358562 2009 Mechanism of the very efficient quenching of tryptophan fluorescence in human gamma D- and gamma S-crystallins: the gamma-crystallin fold may have evolved to protect tryptophan residues from ultraviolet photodamage.
19262743 2009 Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
17905830 2007 Folding and stability of the isolated Greek key domains of the long-lived human lens proteins gammaD-crystallin and gammaS-crystallin.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
16141006 2005 Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14763903 2004 The identification of a reaction site of glutathione mixed-disulphide formation on gammaS-crystallin in human lens.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12529503 2003 Observation of liquid-liquid phase separation for eye lens gammaS-crystallin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12475213 2002 S-methylated cysteines in human lens gamma S-crystallins.
12060738 2002 Shotgun identification of protein modifications from protein complexes and lens tissue.
11706012 2002 The X-ray crystal structure of human gamma S-crystallin C-terminal domain.
10837510 2000 The human gene for gammaS-crystallin: alternative transcripts and expressed sequences from the first intron.
10627816 1999 Structure of the crystallins.
9426193 1997 The crystallins: genes, proteins and diseases.
8999933 1997 Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.
7849599 1994 Three-dimensional model and quaternary structure of the human eye lens protein gamma S-crystallin based on beta- and gamma-crystallin X-ray coordinates and ultracentrifugation.
7733876 1995 The complete sequence of human lens gamma s-crystallin.
3670288 1987 Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.
2258929 1990 Human gamma-crystallin genes. A gene family on its way to extinction.
1445197 1992 Primary structure of beta s-crystallin from human lens.