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CRYBB2 Gene(Protein Coding)

Crystallin Beta B2

GCID:
GC22P025213
GIFtS:
46
Genes Participants
UDN Logo

Aliases for CRYBB2 Gene

Aliases for CRYBB2 Gene

  • Crystallin Beta B2 2 3 5
  • Beta-B2 Crystallin 3 4
  • Beta-Crystallin Bp 3 4
  • CRYB2A 3 4
  • CRYB2 3 4
  • Eye Lens Structural Protein 3
  • Crystallin, Beta B2 2
  • Beta-Crystallin B2 3
  • CTA-221G9.7 3
  • D22S665 3
  • CTRCT3 3
  • CCA2 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. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and structural molecule activity. An important paralog of this gene is CRYBB3.

UniProtKB/Swiss-Prot for CRYBB2 Gene

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

Gene Wiki entry for CRYBB2 Gene

Additional gene information for CRYBB2 Gene

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

Genomics for CRYBB2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CRYBB2 Gene

Promoters and enhancers for CRYBB2 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
GH22J025212 Promoter 0.7 EPDnew 650.7 +0.9 883 0.1 GABPB1 ELF1 GABPA CRYBB2 ENSG00000236641 CRYBB3
GH22J025219 Promoter 0.5 EPDnew 650.4 +8.0 7950 0.1 CRYBB2 ENSG00000236641 ENSG00000279298
GH22J025110 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 7 -98.8 -98838 5.6 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 SLC30A9 LOC100128531 CRYBB2P1 SNRPD3 SPECC1L CRYBB3 ENSG00000236641 CRYBB2 GC22M026570 KIAA1671
GH22J025158 Enhancer 0.7 ENCODE dbSUPER 18.4 -52.5 -52488 1.7 GLIS2 GLIS1 MNT FOS ZNF600 ZIC2 CRYBB2 LOC100128531 CRYBB3 ENSG00000236641 GC22M026570 KIAA1671
GH22J025067 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.4 -142.4 -142412 4.4 MEIS2 PKNOX1 EBF1 PLRG1 BATF ZIC2 POLR2A ZSCAN5C ATF7 RCOR1 LOC100128531 TMEM211 KIAA1671 CRYBB2 ENSG00000236641 ENSG00000279110
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYBB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYBB2 gene promoter:
  • Brachyury
  • Lmo2
  • Zic3
  • Zic1
  • E47

Genomic Locations for CRYBB2 Gene

Genomic Locations for CRYBB2 Gene
chr22:25,211,670-25,231,869
(GRCh38/hg38)
Size:
20,200 bases
Orientation:
Plus strand
chr22:25,615,489-25,627,836
(GRCh37/hg19)
Size:
12,348 bases
Orientation:
Plus strand

Genomic View for CRYBB2 Gene

Genes around CRYBB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBB2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CRYBB2 Gene

Proteins for CRYBB2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CRYBB2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 & Families for CRYBB2 Gene

Gene Families for CRYBB2 Gene

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

Protein Domains for CRYBB2 Gene

Blocks:
InterPro:
ProtoNet:

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 :
  • 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 CRYBB2: view

Function for CRYBB2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CRYBB2 Gene

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

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:0005515 protein binding IPI 11700327
GO:0042802 identical protein binding IPI 16319073
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with CRYBB2: view
genes like me logo Genes that share phenotypes with CRYBB2: view

Human Phenotype Ontology for CRYBB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRYBB2 Gene

MGI Knock Outs for CRYBB2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for CRYBB2 Gene

Localization for CRYBB2 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 CRYBB2 gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

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

Pathways & Interactions for CRYBB2 Gene

SuperPathways for CRYBB2 Gene

PathCards logo More details on SuperPathways for CRYBB2
No Data Available

Gene Ontology (GO) - Biological Process for CRYBB2 Gene

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

No data available for Pathways by source and SIGNOR curated interactions for CRYBB2 Gene

Drugs & Compounds for CRYBB2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CRYBB2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CRYBB2 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(354) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CRYBB2 Gene

Crystallin, beta B2:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRYBB2 Gene

mRNA expression in normal human tissues for CRYBB2 Gene
mRNA expression by GTEx for CRYBB2 GenemRNA expression by BioGPS 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 (x4.0).

Protein differential expression in normal tissues from HIPED for CRYBB2 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 CRYBB2 Gene



Protein tissue co-expression partners for CRYBB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBB2 Gene:

CRYBB2

SOURCE GeneReport for Unigene cluster for CRYBB2 Gene:

Hs.373074

Evidence on tissue expression from TISSUES for CRYBB2 Gene

  • Eye(5)
  • Nervous system(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYBB2 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 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 34 33
  • 99.51 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CRYBB2 34 33
  • 93.5 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CRYBB2 34 33
  • 91.38 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CRYBB2 34
  • 91 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Crybb2 16 34 33
  • 89.27 (n)
rat
(Rattus norvegicus)
 Mammalia Crybb2 33
  • 87.97 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CRYBB2 34
  • 83 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CRYBB2 34 33
  • 81.14 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia crybb2 33
  • 76.14 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.17581 33
zebrafish
(Danio rerio)
 Actinopterygii crybb2 34 33
  • 75.45 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2640 33
Species where no ortholog for CRYBB2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CRYBB2: view image

Paralogs for CRYBB2 Gene

Paralogs for CRYBB2 Gene

(15) SIMAP similar genes for CRYBB2 Gene using alignment to 2 proteins:

  • CRBB2_HUMAN
  • R4UMM2_HUMAN

Pseudogenes.org Pseudogenes for CRYBB2 Gene

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

Variants for CRYBB2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CRYBB2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs146763276 uncertain-significance, Cataract 3, multiple types 25,227,921(+) G/A coding_sequence_variant, missense_variant
rs147344332 likely-pathogenic, Congenital cataract 25,231,737(+) T/G coding_sequence_variant, missense_variant
rs16986560 benign, not specified, Cataract 3, multiple types 25,227,872(+) G/T coding_sequence_variant, missense_variant
rs74315489 pathogenic, likely-pathogenic, Cataract 3, multiple types, Congenital cataract 25,231,617(+) C/T coding_sequence_variant, stop_gained
rs864309683 likely-pathogenic, Congenital cataract 25,231,710(+) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CRYBB2 Gene

Variant ID Type Subtype PubMed ID
dgv175e55 CNV gain 17911159
dgv24e196 CNV duplication 17116639
dgv575n27 CNV loss 19166990
dgv576n27 CNV gain 19166990
dgv731e201 CNV deletion 23290073
dgv8071n54 CNV gain 21841781
esv23681 CNV gain+loss 19812545
esv2758829 CNV gain+loss 17122850
esv3575452 CNV gain 25503493
nsv1110863 OTHER inversion 24896259
nsv428388 CNV loss 18775914
nsv469659 CNV gain+loss 16826518
nsv588756 CNV gain+loss 21841781
nsv7350 OTHER inversion 18451855
nsv834162 CNV loss 17160897
nsv834163 CNV gain+loss 17160897
nsv962779 CNV duplication 23825009
nsv9888 CNV gain 18304495

Variation tolerance for CRYBB2 Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYBB2 Gene

Human Gene Mutation Database (HGMD)
CRYBB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBB2

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

Disorders for CRYBB2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CRYBB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 3, multiple types
  • ctrct3
cerulean cataract
  • cataract, congenital, blue dot type 1
early-onset posterior subcapsular cataract
cataract 25
  • ctrct25
cataract microcornea syndrome
  • microcornea cataract syndrome
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for CRYBB2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CRYBB2: view

No data available for Genatlas for CRYBB2 Gene

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 22 58
  2. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. (PMID: 9158139) Litt M … Maumenee IH (Human molecular genetics 1997) 2 3 4 58
  3. Post-translational modifications of water-soluble human lens crystallins from young adults. (PMID: 8175657) Miesbauer LR … Smith JB (The Journal of biological chemistry 1994) 3 4 22 58
  4. Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin. (PMID: 19321936) Wang L … Qi Y (Ophthalmic research 2009) 3 22 58
  5. Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. (PMID: 17234267) Bateman JB … Spence MA (Ophthalmology 2007) 3 22 58

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