CRYGS (crystallin gamma S)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1427
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin gamma S
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYGS
Synonyms (NCBI Gene) Gene synonyms aliases
CRYG8, CTRCT20
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q27.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs104893736 C>A Pathogenic Missense variant, coding sequence variant
rs1114167312 AG>TT Pathogenic Missense variant, coding sequence variant
rs1184398243 G>C Pathogenic Missense variant, coding sequence variant
rs1578956689 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT018053 hsa-miR-335-5p Microarray 18185580
MIRT023836 hsa-miR-1-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0002088 Process Lens development in camera-type eye IBA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005212 Function Structural constituent of eye lens IBA
GO:0005212 Function Structural constituent of eye lens IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123730 2417 ENSG00000213139
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P22914
Protein name Gamma-crystallin S (Beta-crystallin S) (Gamma-S-crystallin)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 1HA4 , 2M3T , 2M3U , 6FD8 , 6IF9 , 7N36 , 7N37 , 7N38 , 7N39 , 7N3A , 7N3B , 7NJE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 7 → 86 Beta/Gamma crystallin Domain
PF00030 Crystall 95 → 176 Beta/Gamma crystallin Domain
Sequence
Sequence length 178
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 20 multiple types, Developmental cataract rs104893736, rs1114167312, rs1184398243, rs1578956689 N/A
Retinitis Pigmentosa retinitis pigmentosa rs104893736 N/A
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 18587492, 19190732, 19262743, 27440995, 28450710, 28839118, 37762633
Cataract Autosomal Dominant Associate 19262743
Cataract zonular Associate 37762633
Glaucoma Open Angle Associate 29449654
Hyperferritinemia hereditary with congenital cataracts Associate 28450710
Lens Subluxation Associate 28450710