LOCUS       NM_016366               1010 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens calcium binding protein 2 (CABP2), transcript variant
            1, mRNA.
ACCESSION   NM_016366
VERSION     NM_016366.3
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 1010)
  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 1010)
  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 1010)
  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 1010)
  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 1010)
  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 1010)
  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 1010)
  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 1010)
  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 1010)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_016366.2.
            
            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: Transcript Variant: This variant (1) uses an
            alternate splice junction in a coding exon compared to variant 3.
            The resulting isoform (1) has a shorter and distinct N-terminus
            compared to isoform 3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF169154.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2144120,
                                           SAMEA2152568 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294288.5/ ENSP00000294288.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AP001184.4         40008-40025         c
            19-333              BC018476.1         1-315
            334-947             BC018476.1         320-933
            948-975             AF169154.1         897-924
            976-1010            AP001184.4         35491-35525         c
FEATURES             Location/Qualifiers
     source          1..1010
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..1010
                     /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             121..783
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="calcium-binding protein 2 isoform 1"
                     /protein_id="NP_057450.2"
                     /db_xref="CCDS:CCDS8170.1"
                     /db_xref="GeneID:51475"
                     /db_xref="HGNC:HGNC:1385"
                     /db_xref="MIM:607314"
                     /translation="MGNCAKRPWRRGPKDPLQWLGSPPRGSCPSPSSSPKEQGDPAPG
                     VQGYSVLNSLVGPACIFLRPSIAATQLDRELRPEEIEELQVAFQEFDRDRDGYIGCRE
                     LGACMRTLGYMPTEMELIEISQQISGGKVDFEDFVELMGPKLLAETADMIGVRELRDA
                     FREFDTNGDGRISVGELRAALKALLGERLSQREVDEILQDVDLNGDGLVDFEEFVRMM
                     SR"
     exon            163..333
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            334..364
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            365..499
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            500..609
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            610..757
                     /gene="CABP2"
                     /gene_synonym="DFNB93"
                     /inference="alignment:Splign:2.1.0"
     exon            758..1010
                     /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 ctcgaccggg agctgcggcc cgaggagatt
      361 gaagagctgc aggtcgcctt ccaggagttt gaccgagacc gggacggcta cattggctgc
      421 cgggagctgg gtgcctgcat gcggaccctg ggctacatgc ccaccgagat ggagctcatc
      481 gagatctcac aacaaatcag tggcggaaag gtggactttg aagacttcgt ggagctgatg
      541 ggccccaagc tgctggcaga gacggcagac atgatcggtg tccgggagct acgggacgcc
      601 ttccgggagt tcgacaccaa tggggacggc cgcatcagcg tgggcgagct ccgggcggcc
      661 ctcaaggccc tgctggggga gcgcctcagc cagcgggagg tggacgagat cctccaggac
      721 gtggacctca atggggacgg tctggtcgac ttcgaagagt ttgtgcgaat gatgtctcgg
      781 tgagcctgta cagaagctgg aggcagcata aaggactcaa ggaccacagc ctctgcccac
      841 cagcatgttc cttgaagccc atcgcctcta gcggggaccc tcctttcctc cccatcccac
      901 ctgtgtgcag tgcccttgcc tgccttcacc cccaccacca cttctccaat aaagccgcct
      961 ggccttgtct ctgtctctct gacaataaaa tatctccaag cctggggaga
//
