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Aliases for CRYGS Gene

Aliases for CRYGS Gene

  • Crystallin, Gamma S 2 3
  • Gamma-Crystallin S 3 4
  • Gamma-S-Crystallin 3 4
  • CRYG8 3 4
  • Crystallin, Gamma 8 3
  • Crystallin 2
  • Gamma 8 2
  • CTRCT20 3

External Ids for CRYGS Gene

Previous HGNC Symbols for CRYGS Gene

  • CRYG8

Previous GeneCards Identifiers for CRYGS Gene

  • GC03M183027
  • GC03M187513
  • GC03M187658
  • GC03M187577
  • GC03M187738
  • GC03M186256
  • GC03M183665

Summaries for CRYGS Gene

Entrez Gene Summary for CRYGS 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]

GeneCards Summary for CRYGS Gene

CRYGS (Crystallin, Gamma S) is a Protein Coding gene. Diseases associated with CRYGS include autosomal dominant childhood-onset cortical cataract and cataract 20, multiple types. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGC.

UniProtKB/Swiss-Prot for CRYGS Gene

  • Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYGS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYGS Gene

Genomics for CRYGS Gene

Regulatory Elements for CRYGS Gene

Genomic Location for CRYGS Gene

Chromosome:
3
Start:
186,538,441 bp from pter
End:
186,546,702 bp from pter
Size:
8,262 bases
Orientation:
Minus strand

Genomic View for CRYGS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for CRYGS Gene

Proteins for CRYGS Gene

  • Protein details for CRYGS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22914-CRBS_HUMAN
    Recommended name:
    Beta-crystallin S
    Protein Accession:
    P22914
    Secondary Accessions:
    • B2RAF8

    Protein attributes for CRYGS Gene

    Size:
    178 amino acids
    Molecular mass:
    21007 Da
    Quaternary structure:
    • Monomer

    Three dimensional structures from OCA and Proteopedia for CRYGS Gene

neXtProt entry for CRYGS Gene

Proteomics data for CRYGS Gene at MOPED

Post-translational modifications for CRYGS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYGS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYGS Gene

Domains & Families for CRYGS Gene

Protein Domains for CRYGS Gene

Suggested Antigen Peptide Sequences for CRYGS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22914

UniProtKB/Swiss-Prot:

CRBS_HUMAN :
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs
  • Belongs to the beta/gamma-crystallin family.
Domain:
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs
  • Contains 4 beta/gamma crystallin Greek key domains.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYGS: view

No data available for Gene Families for CRYGS Gene

Function for CRYGS Gene

Molecular function for CRYGS Gene

GENATLAS Biochemistry:
crystallin,gamma S polypeptide
UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens

Gene Ontology (GO) - Molecular Function for CRYGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
genes like me logo Genes that share ontologies with CRYGS: view

Phenotypes for CRYGS Gene

MGI mutant phenotypes for CRYGS:
inferred from 3 alleles
GenomeRNAi human phenotypes for CRYGS:
genes like me logo Genes that share phenotypes with CRYGS: view

Animal Models for CRYGS Gene

MGI Knock Outs for CRYGS:

miRNA for CRYGS Gene

miRTarBase miRNAs that target CRYGS

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYGS

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CRYGS Gene

Localization for CRYGS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYGS Gene COMPARTMENTS Subcellular localization image for CRYGS gene
Compartment Confidence
cytoskeleton 2
nucleus 2
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CRYGS Gene

Pathways & Interactions for CRYGS Gene

SuperPathways for CRYGS Gene

No Data Available

Interacting Proteins for CRYGS Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312099%0d%0a9606.ENSP00000350249%0d%0a9606.ENSP00000300086%0d%0a9606.ENSP00000267415%0d%0a
Selected Interacting proteins: ENSP00000312099 for CRYGS Gene via STRING

Gene Ontology (GO) - Biological Process for CRYGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IEA --
GO:0002088 lens development in camera-type eye IEA --
genes like me logo Genes that share ontologies with CRYGS: view

No data available for Pathways by source and SIGNOR curated interactions for CRYGS Gene

Drugs & Compounds for CRYGS Gene

No Compound Related Data Available

Transcripts for CRYGS Gene

mRNA/cDNA for CRYGS Gene

Unigene Clusters for CRYGS Gene

Crystallin, gamma S:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYGS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYGS Gene

No ASD Table

Relevant External Links for CRYGS Gene

GeneLoc Exon Structure for
CRYGS
ECgene alternative splicing isoforms for
CRYGS

Expression for CRYGS Gene

mRNA expression in normal human tissues for CRYGS Gene

Protein differential expression in normal tissues from HIPED for CRYGS Gene

This gene is overexpressed in Vitreous humor (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CRYGS Gene



SOURCE GeneReport for Unigene cluster for CRYGS Gene Hs.376209

genes like me logo Genes that share expression patterns with CRYGS: view

Protein tissue co-expression partners for CRYGS Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CRYGS Gene

Orthologs for CRYGS Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYGS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CRYGS 35
  • 91.39 (n)
  • 91.57 (a)
CRYGS 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYGS 35
  • 91.57 (n)
  • 93.26 (a)
CRYGS 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crygs 35
  • 87.45 (n)
  • 89.89 (a)
Crygs 16
Crygs 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRYGS 35
  • 99.63 (n)
  • 98.88 (a)
CRYGS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crygs 35
  • 87.45 (n)
  • 89.89 (a)
oppossum
(Monodelphis domestica)
Mammalia CRYGS 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYGS 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYGS 35
  • 76.22 (n)
  • 72.32 (a)
CRYGS 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRYGS 36
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii crygs1 35
  • 69.77 (n)
  • 70.93 (a)
Dr.15246 35
crygs1 36
  • 70 (a)
OneToMany
crygs2 36
  • 66 (a)
OneToMany
crygs3 36
  • 52 (a)
OneToMany
crygs4 36
  • 53 (a)
OneToMany
Species with no ortholog for CRYGS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYGS Gene

ENSEMBL:
Gene Tree for CRYGS (if available)
TreeFam:
Gene Tree for CRYGS (if available)

Paralogs for CRYGS Gene

(14) SIMAP similar genes for CRYGS Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CRYGS: view

Variants for CRYGS Gene

Sequence variations from dbSNP and Humsavar for CRYGS Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs12483 -- 186,541,012(-) CTAAG(C/T)CCAAC intron-variant
rs1374808 -- 186,538,344(+) GGAGA(A/G)AATGA downstream-variant-500B
rs3774802 -- 186,540,207(+) TAACA(A/G)AATGA intron-variant
rs3774803 -- 186,542,170(+) TGATA(C/T)GGTCA intron-variant
rs4686429 -- 186,543,558(+) CAACT(A/G)GAGAA intron-variant

Variation tolerance for CRYGS Gene

Residual Variation Intolerance Score: 42.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYGS Gene

HapMap Linkage Disequilibrium report
CRYGS
Human Gene Mutation Database (HGMD)
CRYGS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CRYGS Gene

Disorders for CRYGS Gene

MalaCards: The human disease database

(12) MalaCards diseases for CRYGS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant childhood-onset cortical cataract
  • autosomal dominant childhood-onset progressive cortical cataract
cataract 20, multiple types
  • ctrct20
cataract, total congenital
  • cataract, congenital, with microcornea or slight microphthalmia
lens disease
  • disorder of lens
non-syndromic congenital cataract
- elite association
Search CRYGS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRBS_HUMAN
  • Cataract 20, multiple types (CTRCT20) [MIM:116100]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical. {ECO:0000269 PubMed:16141006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRYGS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYGS
genes like me logo Genes that share disorders with CRYGS: view

No data available for Genatlas for CRYGS Gene

Publications for CRYGS Gene

  1. [Progress in pathogenic genes and their functions of congenital cataract]. (PMID: 20450675) Wang K.J. … Cheng J. (Zhonghua Yan Ke Za Zhi 2010) 23 67
  2. Genetics of crystallins: cataract and beyond. (PMID: 19007775) Graw J. (Exp. Eye Res. 2009) 23 67
  3. Mechanism of the very efficient quenching of tryptophan fluorescence in human gamma D- and gamma S-crystallins: the gamma-crystallin fold may have evolved to protect tryptophan residues from ultraviolet photodamage. (PMID: 19358562) Chen J. … King J. (Biochemistry 2009) 23 67
  4. Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression. (PMID: 19224648) Shi X. … Hu L. (BMC Mol. Biol. 2009) 23 67
  5. Crystallin gene mutations in Indian families with inherited pediatric cataract. (PMID: 18587492) Devi R.R. … Hejtmancik J.F. (Mol. Vis. 2008) 23 67

Products for CRYGS Gene

Sources for CRYGS Gene

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