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    CRYBB2 crystallin beta B2 [ Homo sapiens (human) ]

    Gene ID: 1415, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CRYBB2provided by HGNC
    Official Full Name
    crystallin beta B2provided by HGNC
    Primary source
    HGNC:HGNC:2398
    See related
    Ensembl:ENSG00000244752 MIM:123620; AllianceGenome:HGNC:2398
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCA2; CRYB2; CRYB2A; CTRCT3; D22S665
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CRYBB2 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25211661..25231869)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25672859..25693033)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25615606..25627836)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene KIAA1671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63172 Neighboring gene STMN3 pseudogene 1 Neighboring gene crystallin beta B3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:25673044-25673734 Neighboring gene uncharacterized LOC105372969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25677730-25678664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25678665-25679597 Neighboring gene immunoglobulin lambda like polypeptide 3, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene. Pauli S, et al. Mol Vis, 2007 Jun 19. PMID 17653036, Free PMC Article
    2. The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly. Zhang K, et al. Biochim Biophys Acta, 2014 Jan. PMID 24120835
    3. The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin. Xu J, et al. PLoS One, 2012. PMID 23236454, Free PMC Article
    4. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Faletra F, et al. Ophthalmic Genet, 2013 Mar-Jun. PMID 22846113
    5. Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Weisschuh N, et al. Mol Vis, 2012. PMID 22312185, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of betaB2-crystallin tryptophan mutants reveals two different folding states in solution.
      Title: Characterization of βB2-crystallin tryptophan mutants reveals two different folding states in solution.
    2. ATCUN-like Copper Site in betaB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation.
      Title: ATCUN-like Copper Site in βB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation.
    3. Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by betaB2-G149V Mutation.
      Title: Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.
    4. Conformational stability of the deamidated and mutated human betaB2-crystallin.
      Title: Conformational stability of the deamidated and mutated human βB2-crystallin.
    5. CRYbetaB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer.
      Title: CRYβB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer.
    6. A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
      Title: A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
    7. Polymorphisms in CRYBB2 encoding betaB2-crystallin are associated with antisaccade performance and memory function.
      Title: Polymorphisms in CRYBB2 encoding βB2-crystallin are associated with antisaccade performance and memory function.
    8. betaB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif.
      Title: βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif.
    9. Cataract-Associated New Mutants S175G/H181Q of betaBeta2-Crystallin and P24S/S31G of gammaD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
      Title: Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
    10. Crystallin beta B2 (CRYbetaB2) overexpression in triple-negative breast cancers increases invasive cellular behaviors, tumor growth, IL6 production, immune cell chemoattraction, and the expression of metastasis-associated genes. Combined overexpression of both CRYbetaB2 and the pseudogene, CRYbetaB2P1, is found to suppress cell growth.
      Title: A functional role for the cancer disparity-linked genes, CRYβB2 and CRYβB2P1, in the promotion of breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cataract 3 multiple types
    MedGen: C1832175 OMIM: 601547 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2023-01-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2023-01-10)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of eye lens IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural molecule activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    beta-crystallin B2
    Names
    CTA-221G9.7
    beta-B2 crystallin
    beta-crystallin Bp
    eye lens structural protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009827.1 RefSeqGene

      Range
      4995..17225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000496.3 → NP_000487.1  beta-crystallin B2

      See identical proteins and their annotated locations for NP_000487.1

      Status: REVIEWED

      Source sequence(s)
      BC069535, BF847403, BM667912, Z99916
      Consensus CDS
      CCDS13831.1
      UniProtKB/Swiss-Prot
      P43320, Q9UCM8
      UniProtKB/TrEMBL
      A0A0H3W5U0, R4UMM2
      Related
      ENSP00000381273.2, ENST00000398215.3
      Conserved Domains (2) summary
      smart00247
      Location:18 → 100
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:108 → 190
      Crystall; Beta/Gamma crystallin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      25211661..25231869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724141.4 → XP_006724204.1  beta-crystallin B2 isoform X1

      See identical proteins and their annotated locations for XP_006724204.1

      UniProtKB/Swiss-Prot
      P43320, Q9UCM8
      UniProtKB/TrEMBL
      A0A0H3W5U0, R4UMM2
      Related
      ENSP00000498905.1, ENST00000651629.1
      Conserved Domains (2) summary
      smart00247
      Location:18 → 100
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:108 → 190
      Crystall; Beta/Gamma crystallin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25672859..25693033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325114.1 → XP_054181089.1  beta-crystallin B2 isoform X1

      UniProtKB/Swiss-Prot
      P43320, Q9UCM8
      UniProtKB/TrEMBL
      R4UMM2

    2. XM_054325115.1 → XP_054181090.1  beta-crystallin B2 isoform X1

      UniProtKB/Swiss-Prot
      P43320, Q9UCM8
      UniProtKB/TrEMBL
      R4UMM2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43320.2 GenPept UniProtKB/Swiss-Prot:P43320

    Gene LinkOut

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