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Aliases for CRYBB3 Gene

Aliases for CRYBB3 Gene

  • Crystallin Beta B3 2 3 5
  • CRYB3 3 4
  • Eye Lens Structural Protein 3
  • Crystallin, Beta B3 2
  • Beta-Crystallin B3 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, Multiple Types and Cataract 24. Gene Ontology (GO) annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYBB2.

UniProtKB/Swiss-Prot for CRYBB3 Gene

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

Gene Wiki entry for CRYBB3 Gene

Additional gene information for CRYBB3 Gene

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

Genomics for CRYBB3 Gene

GeneHancer (GH) Regulatory Elements for CRYBB3 Gene

Promoters and enhancers for CRYBB3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J025200 Promoter 0.8 EPDnew 650.7 +1.8 1765 0.1 ZFHX2 ZSCAN4 ZIC2 EGR2 CRYBB3 CRYBB2
GH22J025199 Promoter 0.6 EPDnew 650.7 +1.2 1153 0.1 SCRT2 CRYBB3 CRYBB2
GH22J025192 Promoter 0.5 EPDnew 650.4 -6.2 -6225 0.1 CRYBB3 LOC100128531 GC22P025196 PIR34921 LOC101232810 KIAA1671
GH22J025110 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 10 -85.9 -85854 5.6 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 SLC30A9 LOC100128531 CRYBB2P1 SNRPD3 SPECC1L CRYBB3 ENSG00000236641 CRYBB2 GC22M026570 KIAA1671
GH22J025164 Enhancer 0.7 Ensembl dbSUPER 17 -33.6 -33585 0.6 SCRT1 ZFP69B RXRA ZSCAN4 INSM2 ZXDB CRYBB3 LOC100128531 ENSG00000236641 CRYBB2 GC22M026570 KIAA1671
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYBB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYBB3 gene promoter:
  • Brachyury
  • Lmo2
  • AML1a
  • AP-4
  • HFH-3
  • FOXI1
  • Spz1
  • Arnt
  • AhR
  • E47

Genomic Locations for CRYBB3 Gene

Genomic Locations for CRYBB3 Gene
8,678 bases
Plus strand
7,514 bases
Plus strand

Genomic View for CRYBB3 Gene

Genes around CRYBB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Beta-crystallin B3
    Protein Accession:
    Secondary Accessions:
    • Q3B7S9
    • Q3T1B7
    • Q6ISK6
    • Q92965
    • Q9UH09

    Protein attributes for CRYBB3 Gene

    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

Post-translational modifications for CRYBB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBB3 Gene

Antibody Products

  • Boster Bio Antibodies for CRYBB3

No data available for DME Specific Peptides for CRYBB3 Gene

Domains & Families for CRYBB3 Gene

Gene Families for CRYBB3 Gene

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

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



  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYBB3: view

Function for CRYBB3 Gene

Molecular function for CRYBB3 Gene

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

Phenotypes From GWAS Catalog for CRYBB3 Gene

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

Human Phenotype Ontology for CRYBB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRYBB3 Gene

MGI Knock Outs for CRYBB3:
  • Crybb3 Crybb3<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBB3

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

Localization for CRYBB3 Gene

Subcellular locations from

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 CRYBB3 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) 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 IEA --
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

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

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

Transcripts for CRYBB3 Gene

mRNA/cDNA for CRYBB3 Gene

(3) 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBB3

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

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

Relevant External Links for CRYBB3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CRYBB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CRYBB3 Gene

Protein tissue co-expression partners for CRYBB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBB3 Gene:


SOURCE GeneReport for Unigene cluster for CRYBB3 Gene:


Evidence on tissue expression from TISSUES for CRYBB3 Gene

  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYBB3 Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with CRYBB3: view

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
(Pan troglodytes)
Mammalia CRYBB3 34 33
  • 98.89 (n)
(Canis familiaris)
Mammalia CRYBB3 34 33
  • 90.21 (n)
(Mus musculus)
Mammalia Crybb3 16 34 33
  • 89.1 (n)
(Bos Taurus)
Mammalia CRYBB3 34 33
  • 88.63 (n)
(Rattus norvegicus)
Mammalia Crybb3 33
  • 87.05 (n)
(Ornithorhynchus anatinus)
Mammalia CRYBB3 34
  • 77 (a)
(Monodelphis domestica)
Mammalia CRYBB3 34
  • 59 (a)
(Gallus gallus)
Aves CRYBB3 34 33
  • 75.67 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia crybb3 33
  • 69.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26349 33
(Danio rerio)
Actinopterygii crybb3 34 33
  • 70.03 (n)
Species where no ortholog for CRYBB3 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)
  • 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

Gene Tree for CRYBB3 (if available)
Gene Tree for CRYBB3 (if available)
Evolutionary constrained regions (ECRs) for CRYBB3: view image

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 Variation AA Info Type
rs13055430 benign, likely-benign, not specified, Congenital nuclear cataract 25,207,041(+) C/T intron_variant
rs139487214 likely-benign, Cataract, congenital nuclear, autosomal recessive 2 25,207,068(+) C/A/T 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs142897070 uncertain-significance, Congenital nuclear cataract 25,207,179(+) G/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs144842183 likely-benign, Congenital nuclear cataract 25,207,143(+) G/A 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs147328317 uncertain-significance, Cataract, congenital nuclear, autosomal recessive 2 25,207,123(+) G/T 3_prime_UTR_variant, coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
dgv24e196 CNV duplication 17116639
esv2758829 CNV gain+loss 17122850
nsv1110863 OTHER inversion 24896259
nsv428388 CNV loss 18775914
nsv469659 CNV gain+loss 16826518
nsv7350 OTHER inversion 18451855
nsv834162 CNV loss 17160897
nsv9888 CNV gain 18304495

Variation tolerance for CRYBB3 Gene

Residual Variation Intolerance Score: 91.1% 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)

Additional Variant Information for CRYBB3 Gene

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 22, multiple types
  • ctrct22
cataract 24
  • ctrct24
early-onset nuclear cataract
  • cataracts
warburg micro syndrome
  • micro syndrome
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for 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. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. (PMID: 15914629) Riazuddin SA … Hejtmancik JF (Investigative ophthalmology & visual science 2005) 3 4 22 58
  2. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PMID: 8999933) Lampi KJ … David LL (The Journal of biological chemistry 1997) 2 3 4 58
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  4. 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
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 58

Products for CRYBB3 Gene

Sources for CRYBB3 Gene

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