LOCUS       NM_007773                916 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus crystallin, beta B2 (Crybb2), mRNA.
ACCESSION   NM_007773 XM_001479469
VERSION     NM_007773.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 916)
  AUTHORS   Xiao,W., Yang,W., Zhang,X., Deng,X. and Chen,X.
  TITLE     Endoplasmic Reticulum Stress and the Lysosomal Pathway Play Crucial
            Roles in the Progression of betaB2-Crystallin Mutation-Induced
            Congenital Cataracts in Mice
  JOURNAL   Invest Ophthalmol Vis Sci 64 (4), 34 (2023)
   PUBMED   37103007
  REMARK    GeneRIF: Endoplasmic Reticulum Stress and the Lysosomal Pathway
            Play Crucial Roles in the Progression of betaB2-Crystallin
            Mutation-Induced Congenital Cataracts in Mice.
REFERENCE   2  (bases 1 to 916)
  AUTHORS   Schmid,P.W.N., Lim,N.C.H., Peters,C., Back,K.C., Bourgeois,B.,
            Pirolt,F., Richter,B., Peschek,J., Puk,O., Amarie,O.V., Dalke,C.,
            Haslbeck,M., Weinkauf,S., Madl,T., Graw,J. and Buchner,J.
  TITLE     Imbalances in the eye lens proteome are linked to cataract
            formation
  JOURNAL   Nat Struct Mol Biol 28 (2), 143-151 (2021)
   PUBMED   33432246
REFERENCE   3  (bases 1 to 916)
  AUTHORS   Heermann,T., Garrett,L., Wurst,W., Fuchs,H., Gailus-Durner,V.,
            Hrabe de Angelis,M., Graw,J. and Holter,S.M.
  TITLE     Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes
            in Mice
  JOURNAL   Mol Neurobiol 56 (6), 4215-4230 (2019)
   PUBMED   30291584
  REMARK    GeneRIF: mutated Crybb2 is implicated in the development of
            schizophrenia.
REFERENCE   4  (bases 1 to 916)
  AUTHORS   Sun,M., Ahmad,N., Zhang,R. and Graw,J.
  TITLE     Crybb2 associates with Tmsb4X and is crucial for dendrite
            morphogenesis
  JOURNAL   Biochem Biophys Res Commun 503 (1), 123-130 (2018)
   PUBMED   29864422
  REMARK    GeneRIF: Tmsb4X was up-regulated in Crybb2 mutant brain.
            Additionally, Tmsb4X was co-expressed with Crybb2 at actin-enriched
            cell ruffles. Over-expression of Tmsb4X in cultured hippocampal
            neurons inhibited dendritogenesis, which phenocopied Crybb2
            knock-down.
REFERENCE   5  (bases 1 to 916)
  AUTHORS   Logan,C.M., Rajakaruna,S., Bowen,C., Radice,G.L., Robinson,M.L. and
            Menko,A.S.
  TITLE     N-cadherin regulates signaling mechanisms required for lens fiber
            cell elongation and lens morphogenesis
  JOURNAL   Dev Biol 428 (1), 118-134 (2017)
   PUBMED   28552735
REFERENCE   6  (bases 1 to 916)
  AUTHORS   Chambers,C., Cvekl,A., Sax,C.M. and Russell,P.
  TITLE     Sequence, initial functional analysis and protein-DNA binding sites
            of the mouse beta B2-crystallin-encoding gene
  JOURNAL   Gene 166 (2), 287-292 (1995)
   PUBMED   8543177
REFERENCE   7  (bases 1 to 916)
  AUTHORS   Chambers,C. and Russell,P.
  TITLE     Deletion mutation in an eye lens beta-crystallin. An animal model
            for inherited cataracts
  JOURNAL   J Biol Chem 266 (11), 6742-6746 (1991)
   PUBMED   1707874
REFERENCE   8  (bases 1 to 916)
  AUTHORS   Carper,D., Smith-Gill,S.J. and Kinoshita,J.H.
  TITLE     Immunocytochemical localization of the 27K beta-crystallin
            polypeptide in the mouse lens during development using a specific
            monoclonal antibody: implications for cataract formation in the
            Philly mouse
  JOURNAL   Dev Biol 113 (1), 104-109 (1986)
   PUBMED   3943659
REFERENCE   9  (bases 1 to 916)
  AUTHORS   Kador,P.F., Fukui,H.N., Fukushi,S., Jernigan,H.M. Jr. and
            Kinoshita,J.H.
  TITLE     Philly mouse: a new model of hereditary cataract
  JOURNAL   Exp Eye Res 30 (1), 59-68 (1980)
   PUBMED   7363969
REFERENCE   10 (bases 1 to 916)
  AUTHORS   Piatigorsky,J., Kador,P.F. and Kinoshita,J.H.
  TITLE     Differential synthesis and degradation of protein in the hereditary
            Philly mouse cataract
  JOURNAL   Exp Eye Res 30 (1), 69-78 (1980)
   PUBMED   6767618
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC085185.1.
            
            On Feb 11, 2015 this sequence version replaced NM_007773.3.
            
            Summary: This gene is a member of the beta-crystallin family. Beta
            crystallins, along with alpha and gamma crystallins, are the major
            proteins found in the eye lens. These proteins maintain the
            refractive index of the lens whilst also maintaining its
            transparency. Since lens central fiber cells lose their nuclei
            during development, crystallins are made and then retained
            throughout life, making them extremely stable proteins. Beta and
            gamma crystallins are considered be a superfamily and have a
            similar domain architecture, including four Greek Key motifs.
            Beta-crystallins form aggregates of different sizes and are able to
            self-associate to form dimers or to form heterodimers with other
            beta-crystallins. The protein encoded by this gene may have
            Ca2+-binding activity and could be associated with potential
            functions in the hippocampus and in sperm. Targeted knockout of
            this gene in mouse induces age-related cataract. A
            chain-terminating mutation in a similar gene in human was found to
            cause type 2 cerulean cataracts. [provided by RefSeq, Feb 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC085185.1, CO427954.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMN00849375,
                                           SAMN00849377 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-916               BC085185.1         1-916
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 55.38 cM"
     gene            1..916
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /note="crystallin, beta B2"
                     /db_xref="GeneID:12961"
                     /db_xref="MGI:MGI:88519"
     exon            1..67
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /inference="alignment:Splign:2.1.0"
     exon            68..170
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /inference="alignment:Splign:2.1.0"
     exon            171..250
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /inference="alignment:Splign:2.1.0"
     exon            251..369
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /inference="alignment:Splign:2.1.0"
     exon            370..502
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /inference="alignment:Splign:2.1.0"
     exon            503..645
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /inference="alignment:Splign:2.1.0"
     exon            646..906
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      884..889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /note="hexamer: AATAAA"
     polyA_site      905
                     /gene="Crybb2"
                     /gene_synonym="Cryb-2"
                     /note="major polyA site"
ORIGIN      
        1 tcttctttca aatcactcta ccttctatca agttgacata aaactaatca ggacagtgga
       61 tggatgggga cgcagcggtc ccccatcttg gcaccagctc ccctggggaa ggtataaata
      121 ccacctccca ccagcctggc ttcacggcac tcgcgggggc tggcgatctg gtcacctcga
      181 cgccagagag tccaccatgg cctcagacca ccagacacag gcgggcaagc cccagcccct
      241 taaccccaag atcatcatct tcgaacagga gaacttccag ggccattccc acgagctcag
      301 cgggccctgc cccaacctga aggagactgg tatggagaag gcgggctccg tcctggtgca
      361 ggctggaccc tgggtgggct acgagcaggc taattgcaag ggcgagcagt ttgtgtttga
      421 aaagggcgag tacccacgtt gggactcctg gaccagcagc cggaggacag actccctcag
      481 ctctctgagg cccatcaaag tggacagcca agagcacaag atcatcttat atgagaaccc
      541 caactttact ggcaagaaga tggagattgt agacgacgat gtgcccagct tccatgccca
      601 tggataccag gaaaaggtgt cttccgtgcg tgtgcagagc ggcacgtggg tggggtacca
      661 gtaccctggc taccgtgggc tgcagtacct gctggagaag ggggattaca aggacaacag
      721 cgacttcggg gcccctcacc cccaggtgca gtctgtgcgt cgcatccgtg acatgcagtg
      781 gcaccagcga ggtgccttcc acccctccag ctagagccct gaccctcccc ttccccaggg
      841 tccaggcccg ccacctcgga gcctcctgac acccagagtg aagaataaag tgtggcttgc
      901 aacttgaaaa aaaaaa
//
