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Aliases for CRYGS Gene

Aliases for CRYGS Gene

  • Crystallin Gamma S 2 3 5
  • Crystallin, Gamma 8 2 3
  • CRYG8 3 4
  • Crystallin, Gamma S 2
  • Gamma-S-Crystallin 4
  • Gamma-Crystallin S 4
  • Beta-Crystallin S 3
  • 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 Cataract 20, Multiple Types and Cataract 16, Multiple Types. Gene Ontology (GO) annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGB.

UniProtKB/Swiss-Prot for CRYGS Gene

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

Gene Wiki entry for CRYGS Gene

Additional gene information for CRYGS Gene

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

Genomics for CRYGS Gene

GeneHancer (GH) Regulatory Elements for CRYGS Gene

Promoters and enhancers for CRYGS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I186544 Promoter 0.8 EPDnew 550.8 +2.3 2302 0.1 ZNF316 MAFG MAFK EMSY CRYGS LINC02052
GH03I186570 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.1 -24.0 -23994 2.3 HNRNPUL1 PKNOX1 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 TBCCD1 DNAJB11 TRA2B ENSG00000200418 SNORA4 SNORA81 RFC4 RPS20P14 SNORA63 CRYGS
GH03I186588 Enhancer 1.1 Ensembl ENCODE 5.1 -43.2 -43212 3.2 PKNOX1 FOXA2 ARNT BRCA1 RAD21 RARA GTF3C2 SLC30A9 ZNF366 SCRT2 AHSG SNORD2 EIF4A2 SNORA81 SNORA63 ENSG00000200418 ENSG00000231724 RFC4 FETUB KNG1
GH03I186540 Enhancer 1 Ensembl ENCODE 0.4 +5.7 5718 1.7 BATF IRF4 RAD21 RFX5 ZNF213 ARID2 ZNF366 SCRT2 ZNF143 FOS TRA2B EIF4A2 ENSG00000200418 SNORA63 SNORA81 RFC4 CRYGS LINC02052
GH03I186532 Enhancer 1 FANTOM5 ENCODE 0.4 +13.1 13108 2.8 HDGF PKNOX1 BMI1 BATF IRF4 ZBTB40 ATF7 RCOR1 ETV6 BCLAF1 ST6GAL1 TBCCD1 EIF4A2 CRYGS LINC02052
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRYGS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYGS gene promoter:

Genomic Locations for CRYGS Gene

Genomic Locations for CRYGS Gene
chr3:186,538,441-186,546,702
(GRCh38/hg38)
Size:
8,262 bases
Orientation:
Minus strand
chr3:186,256,230-186,264,491
(GRCh37/hg19)

Genomic View for CRYGS Gene

Genes around CRYGS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYGS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYGS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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

Post-translational modifications for CRYGS Gene

No Post-translational modifications

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

Gene Families for CRYGS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYGS: view

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.

Phenotypes From GWAS Catalog for CRYGS Gene

Gene Ontology (GO) - Molecular Function for CRYGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 24183572
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

Human Phenotype Ontology for CRYGS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRYGS Gene

MGI Knock Outs for CRYGS:

miRNA for CRYGS Gene

miRTarBase miRNAs that target CRYGS

Clone Products

  • Addgene plasmids for CRYGS

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

Localization for CRYGS Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYGS gene
Compartment Confidence
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

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:

Clone Products

  • Addgene plasmids for CRYGS

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for CRYGS Gene



Protein tissue co-expression partners for CRYGS Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYGS Gene:

CRYGS

SOURCE GeneReport for Unigene cluster for CRYGS Gene:

Hs.376209

Evidence on tissue expression from TISSUES for CRYGS Gene

  • Eye(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYGS Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CRYGS: view

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
chimpanzee
(Pan troglodytes)
Mammalia CRYGS 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia CRYGS 33 34
  • 91.57 (n)
cow
(Bos Taurus)
Mammalia CRYGS 33 34
  • 91.39 (n)
mouse
(Mus musculus)
Mammalia Crygs 33 16 34
  • 87.45 (n)
rat
(Rattus norvegicus)
Mammalia Crygs 33
  • 87.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CRYGS 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRYGS 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYGS 33 34
  • 76.22 (n)
lizard
(Anolis carolinensis)
Reptilia CRYGS 34
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii crygs1 33 34
  • 69.77 (n)
crygs2 34
  • 66 (a)
OneToMany
crygs4 34
  • 53 (a)
OneToMany
crygs3 34
  • 52 (a)
OneToMany
Dr.15246 33
Species where no ortholog for CRYGS was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs104893736 pathogenic, Cataract 20, multiple types, Cataract 20, multiple types (CTRCT20) [MIM:116100] 186,539,566(-) C/A coding_sequence_variant, missense_variant
rs1000161382 -- 186,540,819(-) T/C intron_variant
rs1000194585 -- 186,545,321(-) A/T upstream_transcript_variant
rs1000683533 -- 186,540,539(-) G/A intron_variant
rs1001614252 -- 186,546,185(-) T/C upstream_transcript_variant

Variation tolerance for CRYGS Gene

Residual Variation Intolerance Score: 42.3% 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)

Additional Variant Information for CRYGS Gene

Human Gene Mutation Database (HGMD)
CRYGS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 20, multiple types
  • ctrct20
cataract 16, multiple types
  • ctrct16
cataract 25
  • ctrct25
cataract
  • cataracts
nuclear senile cataract
  • senile nuclear cataract
- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for 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. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. (PMID: 16141006) Sun H … Shen Y (Journal of medical genetics 2005) 3 4 22 58
  2. The complete sequence of human lens gamma s-crystallin. (PMID: 7733876) Smith JB … Russell P (The Biochemical journal 1995) 3 4 22 58
  3. Primary structure of beta s-crystallin from human lens. (PMID: 1445197) Zarina S … Zaidi ZH (The Biochemical journal 1992) 3 4 22 58
  4. 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) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for CRYGS Gene

Sources for CRYGS Gene

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