CRYGS (crystallin gamma S)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 1427
Gene name Crystallin gamma S
Gene symbol CRYGS
Synonyms (NCBI Gene)
CRYG8CTRCT20
Chromosome 3
Chromosome location 3q27.3
Summary 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.
4
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.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123730 2417 ENSG00000213139
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataract 20 multiple types Pathogenic; Likely pathogenic rs104893736, rs1184398243, rs1578956689 RCV003581435
RCV000018444
RCV000754763
RCV000754764
Developmental cataract Pathogenic rs1114167312 RCV000490776
Retinitis pigmentosa Pathogenic rs104893736 RCV003315504
See cases Likely pathogenic rs2108743641 RCV001420307
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CRYGS-related disorder Uncertain significance; Likely benign rs570966753, rs376653275 RCV003412236
RCV003912080
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease 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