Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018053	hsa-miR-335-5p	Microarray	18185580
MIRT023836	hsa-miR-1-3p	Microarray	18668037

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
GO:0005515	Function	Protein binding	IPI	24183572
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA

MIM	HGNC	e!Ensembl
123730	2417	ENSG00000213139

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

MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMY
ILPQGEYPEYQRWMGLNDRLSSCRAVHLPSGGQYKIQIFEKGDFSGQMYETTEDCPSIME
QFHMREIHSCKVLEGVWIFYELPNYRGRQYLLDKKEYRKPIDWGAASPAVQSFRRIVE

Sequence length

178

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 20 multiple types	Pathogenic; Likely pathogenic	rs104893736, rs1184398243, rs1578956689	RCV003581435 RCV000018444 RCV000754763 RCV000754764	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Pathogenic	rs1114167312	RCV000490776	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs104893736	RCV003315504	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CATARACT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 20 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 20, MULTIPLE TYPE S	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYGS-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SUTURAL CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cataract	Cataract	CTD_human_DG	16141006		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	18587492, 19190732, 19262743, 27440995, 28450710, 28839118, 37762633	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	19224648, 19558189, 23761725, 24183572, 29857103, 30769148, 31084934, 31738854		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 20, MULTIPLE TYPES	Cataract	UNIPROT_DG	16141006		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 20, MULTIPLE TYPES	Cataract	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 20, MULTIPLE TYPES	Cataract	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 20, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	19262743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract zonular	Congenital cataract	Pubtator	37762633	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, AUTOSOMAL DOMINANT	Cataract	BEFREE	16141006, 19262743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, Central Saccular, With Sutural Opacities	Cataract	ORPHANET_DG	16141006, 18587492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, MARNER TYPE	Cataract	BEFREE	28450710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	23284690, 27440995, 29964096, 30769148, 30827504		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital lamellar cataract	Congenital Cataract	BEFREE	28450710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	16141006, 24183572, 28450710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset lamellar cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset sutural cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	29449654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperferritinemia hereditary with congenital cataracts	Hyperferritinemia	Pubtator	28450710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lens Subluxation	Lens Subluxation	BEFREE	28450710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	16141006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CRYGS (crystallin gamma S)