LOCUS       NM_001318496            1014 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens calcium binding protein 2 (CABP2), transcript variant
            3, mRNA.
ACCESSION   NM_001318496 XM_005274046
VERSION     NM_001318496.2
KEYWORDS    RefSeq.
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 1014)
  AUTHORS   Bharadwaj,T., Schrauwen,I., Acharya,A., Nouel-Saied,L.M.,
            Vaisanen,M.L., Kraatari,M., Rahikkala,E., Jarvela,I., Kotimaki,J.
            and Leal,S.M.
  TITLE     Autosomal recessive nonsyndromic hearing impairment in two Finnish
            families due to the population enriched CABP2 c.637+1G>T variant
  JOURNAL   Mol Genet Genomic Med 10 (3), e1866 (2022)
   PUBMED   35150090
  REMARK    GeneRIF: Autosomal recessive nonsyndromic hearing impairment in two
            Finnish families due to the population enriched CABP2 c.637+1G>T
            variant.
REFERENCE   2  (bases 1 to 1014)
  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   3  (bases 1 to 1014)
  AUTHORS   Schrauwen,I., Helfmann,S., Inagaki,A., Predoehl,F.,
            Tabatabaiefar,M.A., Picher,M.M., Sommen,M., Zazo Seco,C.,
            Oostrik,J., Kremer,H., Dheedene,A., Claes,C., Fransen,E.,
            Chaleshtori,M.H., Coucke,P., Lee,A., Moser,T. and Van Camp,G.
  TITLE     A mutation in CABP2, expressed in cochlear hair cells, causes
            autosomal-recessive hearing impairment
  JOURNAL   Am J Hum Genet 91 (4), 636-645 (2012)
   PUBMED   22981119
  REMARK    GeneRIF: Genetic defects in CABP2 cause moderate-to-severe
            sensorineural hearing impairment.
REFERENCE   4  (bases 1 to 1014)
  AUTHORS   Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
            Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1014)
  AUTHORS   Tabatabaiefar,M.A., Alasti,F., Shariati,L., Farrokhi,E.,
            Fransen,E., Nooridaloii,M.R., Chaleshtori,M.H. and Van Camp,G.
  TITLE     DFNB93, a novel locus for autosomal recessive moderate-to-severe
            hearing impairment
  JOURNAL   Clin Genet 79 (6), 594-598 (2011)
   PUBMED   21542834
REFERENCE   6  (bases 1 to 1014)
  AUTHORS   McCue,H.V., Burgoyne,R.D. and Haynes,L.P.
  TITLE     Membrane targeting of the EF-hand containing calcium-sensing
            proteins CaBP7 and CaBP8
  JOURNAL   Biochem Biophys Res Commun 380 (4), 825-831 (2009)
   PUBMED   19338761
REFERENCE   7  (bases 1 to 1014)
  AUTHORS   Kramer,B., Ferrari,D.M., Klappa,P., Pohlmann,N. and Soling,H.D.
  TITLE     Functional roles and efficiencies of the thioredoxin boxes of
            calcium-binding proteins 1 and 2 in protein folding
  JOURNAL   Biochem J 357 (Pt 1), 83-95 (2001)
   PUBMED   11415439
REFERENCE   8  (bases 1 to 1014)
  AUTHORS   Sokal,I., Li,N., Verlinde,C.L., Haeseleer,F., Baehr,W. and
            Palczewski,K.
  TITLE     Ca(2+)-binding proteins in the retina: from discovery to etiology
            of human disease(1)
  JOURNAL   Biochim Biophys Acta 1498 (2-3), 233-251 (2000)
   PUBMED   11108966
REFERENCE   9  (bases 1 to 1014)
  AUTHORS   Haeseleer,F., Sokal,I., Verlinde,C.L., Erdjument-Bromage,H.,
            Tempst,P., Pronin,A.N., Benovic,J.L., Fariss,R.N. and Palczewski,K.
  TITLE     Five members of a novel Ca(2+)-binding protein (CABP) subfamily
            with similarity to calmodulin
  JOURNAL   J Biol Chem 275 (2), 1247-1260 (2000)
   PUBMED   10625670
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001184.4, BC018476.1 and
            AF169154.1.
            
            On May 31, 2019 this sequence version replaced NM_001318496.1.
            
            Summary: This gene belongs to a subfamily of calcium binding
            proteins that share similarity to calmodulin. Like calmodulin,
            these family members can likely stimulate calmodulin-dependent
            kinase II and the protein phosphatase calcineurin. Calcium binding
            proteins are an important component of calcium mediated cellular
            signal transduction. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (3) represents the longer
            transcript and encodes the longer isoform (3).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB593136.1, BC018476.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2144120,
                                           SAMEA2152568 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AP001184.4         40008-40025         c
            19-968              BC018476.1         1-950
            969-979             AF169154.1         914-924
            980-1014            AP001184.4         35491-35525         c
FEATURES             Location/Qualifiers
     source          1..1014
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..1014
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /note="calcium binding protein 2"
                     /db_xref="GeneID:51475"
                     /db_xref="HGNC:HGNC:1385"
                     /db_xref="MIM:607314"
     exon            1..162
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..787
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /codon_start=1
                     /product="calcium-binding protein 2 isoform 3"
                     /protein_id="NP_001305425.1"
                     /db_xref="GeneID:51475"
                     /db_xref="HGNC:HGNC:1385"
                     /db_xref="MIM:607314"
                     /translation="MVQGPWGTVPSGPGAGALRTPCSGSAPHQGAPAPAPAPAPRSRG
                     TPRQASRATRCSTAWWGLPASSCGPALPPPNSYDRELRPEEIEELQVAFQEFDRDRDG
                     YIGCRELGACMRTLGYMPTEMELIEISQQISGGKVDFEDFVELMGPKLLAETADMIGV
                     RELRDAFREFDTNGDGRISVGELRAALKALLGERLSQREVDEILQDVDLNGDGLVDFE
                     EFVRMMSR"
     exon            163..337
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            338..368
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            369..503
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            504..613
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            614..761
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            762..1014
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtactccca ggctctcatc gggagcagct gggggctggc aggagtcctc aggcagcagc
       61 atccgccgag gcccacccgg gccacccccg gggttccagg cctggcatgg ttcagggccc
      121 atggggaact gtgccaagcg gccctggcgc cggggcccta aggacccctt gcagtggctc
      181 ggctccccac caaggggctc ctgccccagc cccagctcca gccccaagga gcagggggac
      241 cccgcgccag gcgtccaggg ctactcggtg ctcaacagcc tggtggggcc tgcctgcatc
      301 ttcctgcggc ccagcattgc cgccacccaa ctcgtatgac cgggagctgc ggcccgagga
      361 gattgaagag ctgcaggtcg ccttccagga gtttgaccga gaccgggacg gctacattgg
      421 ctgccgggag ctgggtgcct gcatgcggac cctgggctac atgcccaccg agatggagct
      481 catcgagatc tcacaacaaa tcagtggcgg aaaggtggac tttgaagact tcgtggagct
      541 gatgggcccc aagctgctgg cagagacggc agacatgatc ggtgtccggg agctacggga
      601 cgccttccgg gagttcgaca ccaatgggga cggccgcatc agcgtgggcg agctccgggc
      661 ggccctcaag gccctgctgg gggagcgcct cagccagcgg gaggtggacg agatcctcca
      721 ggacgtggac ctcaatgggg acggtctggt cgacttcgaa gagtttgtgc gaatgatgtc
      781 tcggtgagcc tgtacagaag ctggaggcag cataaaggac tcaaggacca cagcctctgc
      841 ccaccagcat gttccttgaa gcccatcgcc tctagcgggg accctccttt cctccccatc
      901 ccacctgtgt gcagtgccct tgcctgcctt cacccccacc accacttctc caataaagcc
      961 gcctggcctt gtctctgtct ctctgacaat aaaatatctc caagcctggg gaga
//
