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Aliases for CRYBB2 Gene

Aliases for CRYBB2 Gene

  • Crystallin, Beta B2 2 3
  • CRYB2 3 4 6
  • Beta-B2 Crystallin 3 4
  • Beta-Crystallin Bp 3 4
  • CRYB2A 3 4
  • CTRCT3 3 6
  • CCA2 3 6
  • Eye Lens Structural Protein 3
  • Beta-Crystallin B2 3
  • D22S665 3

External Ids for CRYBB2 Gene

Previous HGNC Symbols for CRYBB2 Gene

  • CCA2
  • CRYB2A
  • CRYB2

Previous GeneCards Identifiers for CRYBB2 Gene

  • GC22P022313
  • GC22P023940
  • GC22P023941
  • GC22P025615
  • GC22P008563

Summaries for CRYBB2 Gene

Entrez Gene Summary for CRYBB2 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-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRYBB2 Gene

CRYBB2 (Crystallin, Beta B2) is a Protein Coding gene. Diseases associated with CRYBB2 include cataract 3, multiple types and cerulean cataract. Among its related pathways are Wnt signaling pathway (KEGG). GO annotations related to this gene include protein homodimerization activity and structural molecule activity. An important paralog of this gene is CRYGC.

UniProtKB/Swiss-Prot for CRYBB2 Gene

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

Gene Wiki entry for CRYBB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBB2 Gene

Genomics for CRYBB2 Gene

Regulatory Elements for CRYBB2 Gene

Genomic Location for CRYBB2 Gene

Start:
25,212,828 bp from pter
End:
25,231,869 bp from pter
Size:
19,042 bases
Orientation:
Plus strand

Genomic View for CRYBB2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRYBB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBB2 Gene

Proteins for CRYBB2 Gene

  • Protein details for CRYBB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43320-CRBB2_HUMAN
    Recommended name:
    Beta-crystallin B2
    Protein Accession:
    P43320
    Secondary Accessions:
    • Q9UCM8

    Protein attributes for CRYBB2 Gene

    Size:
    205 amino acids
    Molecular mass:
    23380 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 CRYBB2 Gene

neXtProt entry for CRYBB2 Gene

Proteomics data for CRYBB2 Gene at MOPED

Post-translational modifications for CRYBB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYBB2 Gene

Domains for CRYBB2 Gene

Protein Domains for CRYBB2 Gene

Suggested Antigen Peptide Sequences for CRYBB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P43320

UniProtKB/Swiss-Prot:

CRBB2_HUMAN :
  • P43320
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 CRYBB2: view

No data available for Gene Families for CRYBB2 Gene

Function for CRYBB2 Gene

Molecular function for CRYBB2 Gene

GENATLAS Biochemistry: crystallin,beta polypeptide B2
UniProtKB/Swiss-Prot Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Ontology (GO) - Molecular Function for CRYBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 8224918
GO:0005212 structural constituent of eye lens IEA --
GO:0042802 identical protein binding IPI 16319073
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with CRYBB2: view

Phenotypes for CRYBB2 Gene

genes like me logo Genes that share phenotypes with CRYBB2: view

Animal Models for CRYBB2 Gene

MGI Knock Outs for CRYBB2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CRYBB2 Gene

Localization for CRYBB2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYBB2 Gene COMPARTMENTS Subcellular localization image for CRYBB2 gene
Compartment Confidence
cytosol 2
nucleus 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CRYBB2 Gene

Pathways for CRYBB2 Gene

SuperPathways for CRYBB2 Gene

Superpath Contained pathways
1 Wnt signaling pathway (KEGG)
genes like me logo Genes that share pathways with CRYBB2: view

Pathways by source for CRYBB2 Gene

1 BioSystems pathway for CRYBB2 Gene

Gene Ontology (GO) - Biological Process for CRYBB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0043010 camera-type eye development IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with CRYBB2: view

Transcripts for CRYBB2 Gene

mRNA/cDNA for CRYBB2 Gene

Unigene Clusters for CRYBB2 Gene

Crystallin, beta B2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBB2 Gene

No ASD Table

Relevant External Links for CRYBB2 Gene

GeneLoc Exon Structure for
CRYBB2
ECgene alternative splicing isoforms for
CRYBB2

Expression for CRYBB2 Gene

mRNA expression in normal human tissues for CRYBB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYBB2 Gene

This gene is overexpressed in Testis (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CRYBB2 Gene

SOURCE GeneReport for Unigene cluster for CRYBB2 Gene Hs.373074

genes like me logo Genes that share expressions with CRYBB2: view

No data available for mRNA Expression by UniProt/SwissProt for CRYBB2 Gene

Orthologs for CRYBB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYBB2 35
  • 99.51 (n)
  • 100 (a)
CRYBB2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRYBB2 35
  • 91.38 (n)
  • 97.07 (a)
CRYBB2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYBB2 35
  • 93.5 (n)
  • 98.54 (a)
CRYBB2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crybb2 35
  • 89.27 (n)
  • 97.07 (a)
Crybb2 16
Crybb2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRYBB2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYBB2 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crybb2 35
  • 87.97 (n)
  • 97.07 (a)
chicken
(Gallus gallus)
Aves CRYBB2 35
  • 81.14 (n)
  • 82.93 (a)
CRYBB2 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.17581 35
tropical clawed frog
(Silurana tropicalis)
Amphibia crybb2 35
  • 76.14 (n)
  • 83.82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2640 35
zebrafish
(Danio rerio)
Actinopterygii crybb2 35
  • 75.45 (n)
  • 75.12 (a)
crybb2 36
  • 74 (a)
OneToOne
Species with no ortholog for CRYBB2:
  • 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)
  • 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 CRYBB2 Gene

ENSEMBL:
Gene Tree for CRYBB2 (if available)
TreeFam:
Gene Tree for CRYBB2 (if available)

Paralogs for CRYBB2 Gene

Paralogs for CRYBB2 Gene

Selected SIMAP similar genes for CRYBB2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CRYBB2 Gene

genes like me logo Genes that share paralogs with CRYBB2: view

Variants for CRYBB2 Gene

Sequence variations from dbSNP and Humsavar for CRYBB2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs713825 -- 25,214,088(+) aactc(A/T)agtac intron-variant
rs739315 -- 25,221,635(+) GTTGG(A/G)GCTGA intron-variant
rs969623 -- 25,220,246(+) CCAAG(C/T)GCTTC intron-variant
rs1054476 -- 25,213,605(+) cctgt(A/G)ataag intron-variant
rs1058055 -- 25,224,944(+) AACTT(C/T)CAAGG synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for CRYBB2 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
dgv175e55 CNV Gain 17911159
dgv1394e1 CNV Complex 17122850
nsv834163 CNV Gain+Loss 17160897
esv23681 CNV Gain+Loss 19812545
dgv575n27 CNV Loss 19166990
dgv576n27 CNV Gain 19166990
dgv778e201 CNV Deletion 23290073

Relevant External Links for CRYBB2 Gene

HapMap Linkage Disequilibrium report
CRYBB2
Human Gene Mutation Database (HGMD)
CRYBB2
Locus Specific Mutation Databases (LSDB)
CRYBB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBB2 Gene

Disorders for CRYBB2 Gene

(1) OMIM Diseases for CRYBB2 Gene (123620)

UniProtKB/Swiss-Prot

CRBB2_HUMAN
  • Cataract 3, multiple types (CTRCT3) [MIM:601547]: 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. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. {ECO:0000269 PubMed:10634616, ECO:0000269 PubMed:9158139}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CRYBB2 Gene

(3) Novoseek inferred disease relationships for CRYBB2 Gene

Disease -log(P) Hits PubMed IDs
cataract, autosomal dominant 93.9 2
congenital cataract 86.3 1
cataract 68.7 7
genes like me logo Genes that share disorders with CRYBB2: view

Publications for CRYBB2 Gene

  1. Sequence of the human lens beta B2-crystallin-encoding cDNA. (PMID: 8224918) Chambers C. … Russell P. (Gene 1993) 2 3 4 23
  2. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. (PMID: 9158139) Litt M. … Maumenee I.H. (Hum. Mol. Genet. 1997) 2 3 4
  3. Post-translational modifications of water-soluble human lens crystallins from young adults. (PMID: 8175657) Miesbauer L.R. … Smith J.B. (J. Biol. Chem. 1994) 3 4 23
  4. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PMID: 8999933) Lampi K.J. … David L.L. (J. Biol. Chem. 1997) 3 4
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4

Products for CRYBB2 Gene

Sources for CRYBB2 Gene

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