Details for: CRYBB2
Associated with
Other Information
Genular Protein ID: 3093944648
Symbol: CRBB2_HUMAN
Name: Beta-crystallin B2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8224918
Title: Sequence of the human lens beta B2-crystallin-encoding cDNA.
PubMed ID: 8224918
PubMed ID: 9158139
Title: Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
PubMed ID: 9158139
DOI: 10.1093/hmg/6.5.665
PubMed ID: 15461802
Title: A genome annotation-driven approach to cloning the human ORFeome.
PubMed ID: 15461802
PubMed ID: 10591208
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8443605
Title: Amino acid sequence of human lens beta B2-crystallin.
PubMed ID: 8443605
PubMed ID: 8999933
Title: Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.
PubMed ID: 8999933
PubMed ID: 1521468
Title: Two-dimensional gel electrophoretic analysis of human lens proteins.
PubMed ID: 1521468
PubMed ID: 8175657
Title: Post-translational modifications of water-soluble human lens crystallins from young adults.
PubMed ID: 8175657
PubMed ID: 10930324
Title: The major in vivo modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage.
PubMed ID: 10930324
PubMed ID: 10634616
Title: Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.
PubMed ID: 10634616
PubMed ID: 28839118
Title: High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
PubMed ID: 28839118
PubMed ID: 29386872
Title: Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
PubMed ID: 29386872
PubMed ID: 29259299
Title: Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.
PubMed ID: 29259299
PubMed ID: 31523120
Title: Mutation screening of crystallin genes in Chinese families with congenital cataracts.
PubMed ID: 31523120
PubMed ID: 17327390
Title: Mutation of interfaces in domain-swapped human betaB2-crystallin.
PubMed ID: 17327390
DOI: 10.1110/ps.062659107
Sequence Information:
- Length: 205
- Mass: 23380
- Checksum: FD95C354724A67D0
- Sequence:
MASDHQTQAG KPQSLNPKII IFEQENFQGH SHELNGPCPN LKETGVEKAG SVLVQAGPWV GYEQANCKGE QFVFEKGEYP RWDSWTSSRR TDSLSSLRPI KVDSQEHKII LYENPNFTGK KMEIIDDDVP SFHAHGYQEK VSSVRVQSGT WVGYQYPGYR GLQYLLEKGD YKDSSDFGAP HPQVQSVRRI RDMQWHQRGA FHPSN
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.