Gene id |
1427 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
CRYGS Gene UCSC Ensembl |
Aliases |
CRYG8, CTRCT20 |
Gene name |
crystallin gamma S |
Alternate names |
gamma-crystallin S, beta-crystallin S, crystallin, gamma 8, |
Gene location |
3q27.3 (8943032: 8937571) Exons: 2 NC_000011.10
|
Gene summary(Entrez) |
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
|
OMIM |
123730 |
Protein Summary
|
Protein general information
| P22914
Name: Gamma crystallin S (Beta crystallin S) (Gamma S crystallin)
Length: 178 Mass: 21007
|
Sequence |
MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMYILPQGEYPEYQRWMG LNDRLSSCRAVHLPSGGQYKIQIFEKGDFSGQMYETTEDCPSIMEQFHMREIHSCKVLEGVWIFYELPNYRGRQY LLDKKEYRKPIDWGAASPAVQSFRRIVE
|
Structural information |
|
Other Databases |
GeneCards: CRYGS  Malacards: CRYGS |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0007601 |
visual perception
|
IBA |
biological process |
GO:0002088 |
lens development in camer a-type eye
|
IBA |
biological process |
GO:0005212 |
structural constituent of eye lens
|
IBA |
molecular function |
GO:0005212 |
structural constituent of eye lens
|
IEA |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005212 |
structural constituent of eye lens
|
IEA |
molecular function |
GO:0002009 |
morphogenesis of an epith elium
|
IEA |
biological process |
GO:0002088 |
lens development in camer a-type eye
|
IEA |
biological process |
|
|
Associated diseases |
References |
Cataract | KEGG:H01202 |
Cataract | KEGG:H01202 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|