CRYGS (crystallin gamma S)

2018-11-01  

Identity

HGNC
CRYGS
LOCATION
3q27.3
LOCUSID
1427
ALIAS
CRYG8,CTRCT20
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
eye
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375866302023The 18th amino acid glycine plays an essential role in maintaining the structural stabilities of γS-crystallin linking with congenital cataract.0
377626332023Human γS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract.0
375866302023The 18th amino acid glycine plays an essential role in maintaining the structural stabilities of γS-crystallin linking with congenital cataract.0
377626332023Human γS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract.0
350216232022Human γS-Crystallin Resists Unfolding Despite Extensive Chemical Modification from Exposure to Ionizing Radiation.0
350216232022Human γS-Crystallin Resists Unfolding Despite Extensive Chemical Modification from Exposure to Ionizing Radiation.0
334543292021A novel F30S mutation in γS-crystallin causes autosomal dominant congenital nuclear cataract by increasing susceptibility to stresses.3
334543292021A novel F30S mutation in γS-crystallin causes autosomal dominant congenital nuclear cataract by increasing susceptibility to stresses.3
318125422020Human αB-crystallin discriminates between aggregation-prone and function-preserving variants of a client protein.5
322342362020The cataract-related S39C variant increases γS-crystallin sensitivity to environmental stress by destroying the intermolecular disulfide cross-links.4
323070802020ATP antagonizes the crowding-induced destabilization of the human eye-lens protein γS-crystallin.7
326974052020Cumulative deamidations of the major lens protein γS-crystallin increase its aggregation during unfolding and oxidation.20
327533162020Cataract-causing G18V eliminates the antagonization by ATP against the crowding-induced destabilization of human γS-crystallin.2
330041752020ATP differentially antagonizes the crowding-induced destabilization of human γS-crystallin and its four cataract-causing mutants.6
318125422020Human αB-crystallin discriminates between aggregation-prone and function-preserving variants of a client protein.5

Citation

Dessen P

CRYGS (crystallin gamma S)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57635/cancer-prone-explorer/case-report-explorer/css/lib/dataTables.bootstrap.min.css