CRYGS
Gamma-crystallin S
Also known as: CRYG8, CRYGS_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P22914
- Gene
- CRYGS
- Ensembl
- ENSG00000213139
- Chromosome
- 3
- Canonical length
- 178 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI 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 lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
178 residues, UniProt reviewed canonical sequence.
>P22914|CRYGS
1 MSKTGTKITF YEDKNFQGRR YDCDCDCADF HTYLSRCNSI KVEGGTWAVY ERPNFAGYMY
61 ILPQGEYPEY QRWMGLNDRL SSCRAVHLPS GGQYKIQIFE KGDFSGQMYE TTEDCPSIME
121 QFHMREIHSC KVLEGVWIFY ELPNYRGRQY LLDKKEYRKP IDWGAASPAV QSFRRIVELocalizationUniProt · AlphaFold · HPA
Whether an antibody against CRYGS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 12 nTPM
- retina: 7.5 nTPM
- thymus: 4.5 nTPM
- hippocampal formation: 3.7 nTPM
- midbrain: 3.7 nTPM
- hypothalamus: 3.5 nTPM
Single-cell type
- choroid plexus epithelial cells: 12 nCPM
- medullary thymic epithelial cells: 9.6 nCPM
- podocytes: 8.5 nCPM
- retinal pigment epithelial cells: 8.5 nCPM
- proximal tubule cells: 8.4 nCPM
- pituicytes/fscs: 8.3 nCPM
Immune cell
- MAIT T-cell: 0.4 nTPM
- memory CD4 T-cell: 0.3 nTPM
- gdT-cell: 0.2 nTPM
- memory CD8 T-cell: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- cerebellum: 5.9 nTPM
- hypothalamus: 4.3 nTPM
- white matter: 4.2 nTPM
- pons: 3.8 nTPM
- cerebral cortex: 3.7 nTPM
- choroid plexus: 3.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CRYGS.
Disease | AllUniProt
Conditions CRYGS is implicated in, by any mechanism.
- Cataract 20, multiple types (CTRCT20) MIM:116100
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 68 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 20 multiple types
- Retinitis pigmentosa
- Developmental cataract
- See cases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.98
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.24
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CRYGS as an antibody target. Whether an autoantibody or antibody against CRYGS could matter depends on whether native CRYGS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CRYGS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CRYGS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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