LOCUS       NM_057093                902 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens crystallin beta A2 (CRYBA2), transcript variant 2,
            mRNA.
ACCESSION   NM_057093
VERSION     NM_057093.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 902)
  AUTHORS   Kong,Y., Yi,H., Li,F., Duan,X., Yang,L., Fan,X., Wu,G., Ma,M.,
            Zha,X. and He,Y.
  TITLE     A novel missense mutation in the CRYBA2 caused autosomal dominant
            presenile cataract in a Chinese family
  JOURNAL   Mol Genet Genomics 298 (5), 1237-1244 (2023)
   PUBMED   37438446
  REMARK    GeneRIF: A novel missense mutation in the CRYBA2 caused autosomal
            dominant presenile cataract in a Chinese family.
REFERENCE   2  (bases 1 to 902)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 902)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 902)
  AUTHORS   Grossmann,A., Benlasfer,N., Birth,P., Hegele,A., Wachsmuth,F.,
            Apelt,L. and Stelzl,U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 902)
  AUTHORS   Reis,L.M., Tyler,R.C., Muheisen,S., Raggio,V., Salviati,L.,
            Han,D.P., Costakos,D., Yonath,H., Hall,S., Power,P. and Semina,E.V.
  TITLE     Whole exome sequencing in dominant cataract identifies a new
            causative factor, CRYBA2, and a variety of novel alleles in known
            genes
  JOURNAL   Hum Genet 132 (7), 761-770 (2013)
   PUBMED   23508780
  REMARK    GeneRIF: Whole exome sequencing in dominant cataract identifies a
            new causative factor, CRYBA2, and a variety of novel alleles in
            known genes.
REFERENCE   6  (bases 1 to 902)
  AUTHORS   Zhao,J., Li,M., Bradfield,J.P., Zhang,H., Mentch,F.D., Wang,K.,
            Sleiman,P.M., Kim,C.E., Glessner,J.T., Hou,C., Keating,B.J.,
            Thomas,K.A., Garris,M.L., Deliard,S., Frackelton,E.C., Otieno,F.G.,
            Chiavacci,R.M., Berkowitz,R.I., Hakonarson,H. and Grant,S.F.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 902)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   8  (bases 1 to 902)
  AUTHORS   Lapko,V.N., Smith,D.L. and Smith,J.B.
  TITLE     Expression of betaA2-crystallin in human lenses
  JOURNAL   Exp Eye Res 77 (3), 383-385 (2003)
   PUBMED   12907171
REFERENCE   9  (bases 1 to 902)
  AUTHORS   Hulsebos,T.J., Cerosaletti,K.M., Fournier,R.E., Sinke,R.J.,
            Rocchi,M., Marzella,R., Jenkins,N.A., Gilbert,D.J. and
            Copeland,N.G.
  TITLE     Identification of the human beta A2 crystallin gene (CRYBA2):
            localization of the gene on human chromosome 2 and of the
            homologous gene on mouse chromosome 1
  JOURNAL   Genomics 28 (3), 543-548 (1995)
   PUBMED   7490092
REFERENCE   10 (bases 1 to 902)
  AUTHORS   Delaye,M. and Tardieu,A.
  TITLE     Short-range order of crystallin proteins accounts for eye lens
            transparency
  JOURNAL   Nature 302 (5907), 415-417 (1983)
   PUBMED   6835373
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097468.3 and BC006285.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_057093.1.
            
            Summary: Crystallins are separated into two classes:
            taxon-specific, or enzyme, and ubiquitous. The latter class
            constitutes the major proteins of the vertebrate eye, which
            function to maintain 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 defined 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 but absent in
            the acidic group). Beta-crystallins form aggregates of different
            sizes and are able to form homodimers through self-association or
            heterodimers with other beta-crystallins. This gene is a beta
            acidic group member. Three alternatively spliced transcript
            variants encoding identical proteins have been reported. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains an alternate 5' UTR
            region as compared to variant 1, but encodes the identical protein.
            
            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 :: BC006285.2, BE901645.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295728.7/ ENSP00000295728.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AC097468.3         73044-73060         c
            18-902              BC006285.2         1-885
FEATURES             Location/Qualifiers
     source          1..902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..902
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /note="crystallin beta A2"
                     /db_xref="GeneID:1412"
                     /db_xref="HGNC:HGNC:2395"
                     /db_xref="MIM:600836"
     exon            1..407
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /inference="alignment:Splign:2.1.0"
     CDS             247..840
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /note="eye lens structural protein"
                     /codon_start=1
                     /product="beta-crystallin A2"
                     /protein_id="NP_476434.1"
                     /db_xref="CCDS:CCDS2429.1"
                     /db_xref="GeneID:1412"
                     /db_xref="HGNC:HGNC:2395"
                     /db_xref="MIM:600836"
                     /translation="MSSAPAPGPAPASLTLWDEEDFQGRRCRLLSDCANVCERGGLPR
                     VRSVKVENGVWVAFEYPDFQGQQFILEKGDYPRWSAWSGSSSHNSNQLLSFRPVLCAN
                     HNDSRVTLFEGDNFQGCKFDLVDDYPSLPSMGWASKDVGSLKVSSGAWVAYQYPGYRG
                     YQYVLERDRHSGEFCTYGELGTQAHTGQLQSIRRVQH"
     exon            408..549
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /inference="alignment:Splign:2.1.0"
     exon            550..692
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /inference="alignment:Splign:2.1.0"
     exon            693..902
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /inference="alignment:Splign:2.1.0"
     regulatory      877..882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /note="hexamer: AATAAA"
     polyA_site      902
                     /gene="CRYBA2"
                     /gene_synonym="CTRCT42"
                     /note="major polyA site"
ORIGIN      
        1 agcctcgcag ccggtccatt tccctcgcgt gccgcgctca cccacccggt gaatgccctc
       61 tgctggggtg gggaagggag gggagcgcgg gaagactgcg agcccctggc agccgggtcc
      121 agagctaggc cgggtccagc ccccgggttc ttcatccgct acccaggttg ggcaggctgt
      181 gtgtggctcg aaacggggct cttgagacgc tgagcgcgtg gtgccaccct tcctgtccgc
      241 agcggcatga gcagcgcccc cgcgccgggc ccggcgcccg ccagcctcac gctctgggac
      301 gaggaggact tccagggccg tcgctgtcgg ctgctaagcg actgtgcgaa cgtctgcgag
      361 cgcggaggcc tgcccagggt gcgctcggtc aaggtggaaa acggcgtttg ggtggccttt
      421 gagtaccccg acttccaggg acagcagttc attctggaga agggagacta tcctcgctgg
      481 agcgcctgga gtggcagcag cagccacaac agcaaccagc tgctgtcctt ccggccagtg
      541 ctctgcgcga accacaatga cagccgtgtg acactgtttg agggggacaa cttccaaggc
      601 tgcaagtttg acctcgttga tgactaccca tccctgccct ccatgggctg ggccagcaag
      661 gatgtgggtt ccctcaaagt cagctccgga gcgtgggtgg cctaccagta cccaggctac
      721 cgaggctacc agtatgtgtt ggagcgggac cggcacagcg gagagttctg tacttacggt
      781 gagctcggca cacaggccca cactgggcag ctgcagtcca tccggagagt ccagcactag
      841 gctccacggc cccagacacc ttccctgagg acactcaata aaggttcctg aatcttcctg
      901 cc
//
