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Aliases for CRYBB3 Gene

Aliases for CRYBB3 Gene

  • Crystallin, Beta B3 2 3
  • CRYB3 3 4
  • Eye Lens Structural Protein 3
  • Beta-B3 Crystallin 4
  • CTRCT22 3
  • CATCN2 3

External Ids for CRYBB3 Gene

Previous HGNC Symbols for CRYBB3 Gene

  • CRYB3

Previous GeneCards Identifiers for CRYBB3 Gene

  • GC22P022291
  • GC22P023920
  • GC22P025595
  • GC22P008543

Summaries for CRYBB3 Gene

Entrez Gene Summary for CRYBB3 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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]

GeneCards Summary for CRYBB3 Gene

CRYBB3 (Crystallin, Beta B3) is a Protein Coding gene. Diseases associated with CRYBB3 include cataract 22, autosomal recessive and cataract anterior polar dominant. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGC.

UniProtKB/Swiss-Prot for CRYBB3 Gene

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

Gene Wiki entry for CRYBB3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBB3 Gene

Genomics for CRYBB3 Gene

Regulatory Elements for CRYBB3 Gene

Genomic Location for CRYBB3 Gene

Chromosome:
22
Start:
25,198,686 bp from pter
End:
25,207,363 bp from pter
Size:
8,678 bases
Orientation:
Plus strand

Genomic View for CRYBB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRYBB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBB3 Gene

Proteins for CRYBB3 Gene

  • Protein details for CRYBB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26998-CRBB3_HUMAN
    Recommended name:
    Beta-crystallin B3
    Protein Accession:
    P26998
    Secondary Accessions:
    • Q3B7S9
    • Q3T1B7
    • Q6ISK6
    • Q92965
    • Q9UH09

    Protein attributes for CRYBB3 Gene

    Size:
    211 amino acids
    Molecular mass:
    24252 Da
    Quaternary structure:
    • Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity).

    Three dimensional structures from OCA and Proteopedia for CRYBB3 Gene

neXtProt entry for CRYBB3 Gene

Proteomics data for CRYBB3 Gene at MOPED

Post-translational modifications for CRYBB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYBB3 Gene

Domains & Families for CRYBB3 Gene

Protein Domains for CRYBB3 Gene

Suggested Antigen Peptide Sequences for CRYBB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P26998

UniProtKB/Swiss-Prot:

CRBB3_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 CRYBB3: view

No data available for Gene Families for CRYBB3 Gene

Function for CRYBB3 Gene

Molecular function for CRYBB3 Gene

GENATLAS Biochemistry:
crystallin,beta polypeptide B3 (see CRYB@)
UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens

Gene Ontology (GO) - Molecular Function for CRYBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CRYBB3: view

Phenotypes for CRYBB3 Gene

genes like me logo Genes that share phenotypes with CRYBB3: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYBB3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CRYBB3 Gene

Localization for CRYBB3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYBB3 Gene COMPARTMENTS Subcellular localization image for CRYBB3 gene
Compartment Confidence
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CRYBB3 Gene

Pathways & Interactions for CRYBB3 Gene

SuperPathways for CRYBB3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS 8999933
genes like me logo Genes that share ontologies with CRYBB3: view

No data available for Pathways by source and SIGNOR curated interactions for CRYBB3 Gene

Drugs & Compounds for CRYBB3 Gene

(1) Drugs for CRYBB3 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473

(1) Additional Compounds for CRYBB3 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Pancreozymin
genes like me logo Genes that share compounds with CRYBB3: view

Transcripts for CRYBB3 Gene

mRNA/cDNA for CRYBB3 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CRYBB3 Gene

Crystallin, beta B3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYBB3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBB3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2:

Relevant External Links for CRYBB3 Gene

GeneLoc Exon Structure for
CRYBB3
ECgene alternative splicing isoforms for
CRYBB3

Expression for CRYBB3 Gene

mRNA expression in normal human tissues for CRYBB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYBB3 Gene

This gene is overexpressed in Kidney - Cortex (x6.2) and Liver (x5.3).

Protein differential expression in normal tissues from HIPED for CRYBB3 Gene

This gene is overexpressed in Vitreous humor (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRYBB3 Gene



SOURCE GeneReport for Unigene cluster for CRYBB3 Gene Hs.533022

genes like me logo Genes that share expression patterns with CRYBB3: view

Protein tissue co-expression partners for CRYBB3 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 Expression by UniProt/SwissProt for CRYBB3 Gene

Orthologs for CRYBB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBB3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CRYBB3 35
  • 88.63 (n)
  • 91 (a)
CRYBB3 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYBB3 35
  • 90.21 (n)
  • 92.42 (a)
CRYBB3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crybb3 35
  • 89.1 (n)
  • 91.94 (a)
Crybb3 16
Crybb3 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRYBB3 35
  • 98.89 (n)
  • 97.63 (a)
CRYBB3 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crybb3 35
  • 87.05 (n)
  • 90.05 (a)
oppossum
(Monodelphis domestica)
Mammalia CRYBB3 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYBB3 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYBB3 35
  • 75.67 (n)
  • 75.36 (a)
CRYBB3 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crybb3 35
  • 69.23 (n)
  • 70.19 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26349 35
zebrafish
(Danio rerio)
Actinopterygii crybb3 35
  • 70.03 (n)
  • 68.75 (a)
crybb3 36
  • 55 (a)
OneToOne
Species with no ortholog for CRYBB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYBB3 Gene

ENSEMBL:
Gene Tree for CRYBB3 (if available)
TreeFam:
Gene Tree for CRYBB3 (if available)

Paralogs for CRYBB3 Gene

Paralogs for CRYBB3 Gene

(16) SIMAP similar genes for CRYBB3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CRYBB3: view

Variants for CRYBB3 Gene

Sequence variations from dbSNP and Humsavar for CRYBB3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs732706 -- 25,204,732(+) ACTTT(A/G)AACAC intron-variant
rs739314 -- 25,202,134(+) ATGAC(A/G/T)AGAAC intron-variant
rs2001159 -- 25,200,903(+) ATTTG(C/T)TGAAT intron-variant
rs2007042 -- 25,204,610(+) GTGGC(A/G)TTTTG intron-variant
rs2027889 -- 25,201,659(+) TGCTG(C/T)ATCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRYBB3 Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
dgv1392e1 CNV Complex 17122850
dgv24e196 CNV Duplication 17116639
nsv834162 CNV Loss 17160897
nsv428388 CNV Loss 18775914
dgv1393e1 CNV Complex 17122850
nsv469659 CNV Complex 16826518
nsv9888 CNV Gain 18304495

Variation tolerance for CRYBB3 Gene

Residual Variation Intolerance Score: 91.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.26; 62.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYBB3 Gene

HapMap Linkage Disequilibrium report
CRYBB3
Human Gene Mutation Database (HGMD)
CRYBB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBB3 Gene

Disorders for CRYBB3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CRYBB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
cataract 22, autosomal recessive
  • cataract, congenital nuclear, autosomal recessive 2
cataract anterior polar dominant
  • anterior polar cataracts 1
nuclear cataract
cataract
non-syndromic congenital cataract
- elite association

UniProtKB/Swiss-Prot

CRBB3_HUMAN
  • Cataract 22, multiple types (CTRCT22) [MIM:609741]: 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. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. {ECO:0000269 PubMed:15914629, ECO:0000269 PubMed:23508780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRYBB3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYBB3
genes like me logo Genes that share disorders with CRYBB3: view

No data available for Genatlas for CRYBB3 Gene

Publications for CRYBB3 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. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. (PMID: 19262743) Vanita V. … Sperling K. (Mol. Vis. 2009) 23 67
  3. Crystallin gene mutations in Indian families with inherited pediatric cataract. (PMID: 18587492) Devi R.R. … Hejtmancik J.F. (Mol. Vis. 2008) 23 67
  4. Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. (PMID: 17234267) Bateman J.B. … Spence M.A. (Ophthalmology 2007) 23 67
  5. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. (PMID: 15914629) Riazuddin S.A. … Hejtmancik J.F. (Invest. Ophthalmol. Vis. Sci. 2005) 23 67

Products for CRYBB3 Gene

Sources for CRYBB3 Gene

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