CRYGS (crystallin gamma S)

2018-11-01  

Identity

HGNC
LOCATION
3q27.3
LOCUSID
ALIAS
CRYG8,CTRCT20
FUSION GENES

Other Information

Locus ID:

NCBI: 1427
MIM: 123730
HGNC: 2417
Ensembl: ENSG00000213139

Variants:

dbSNP: 1427
ClinVar: 1427
TCGA: ENSG00000213139
COSMIC: CRYGS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213139ENST00000307944P22914
ENSG00000213139ENST00000307944A0A140CTX8
ENSG00000213139ENST00000392499P22914
ENSG00000213139ENST00000392499A0A140CTX8

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179058302007Folding and stability of the isolated Greek key domains of the long-lived human lens proteins gammaD-crystallin and gammaS-crystallin.39
193585622009Mechanism 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.36
206216682010Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.29
120932812002Deamidation in human gamma S-crystallin from cataractous lenses is influenced by surface exposure.23
195581892009The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.23
212448462011Separating instability from aggregation propensity in γS-crystallin variants.23
218662132011Mutation analysis of 12 genes in Chinese families with congenital cataracts.21
192627432009Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.16
124752132002S-methylated cysteines in human lens gamma S-crystallins.14
147639032004The identification of a reaction site of glutathione mixed-disulphide formation on gammaS-crystallin in human lens.13

Citation

Dessen P

CRYGS (crystallin gamma S)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57635/crygs