LOCUS       NM_006383               1499 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens calcium and integrin binding family member 2 (CIB2),
            transcript variant 1, mRNA.
ACCESSION   NM_006383
VERSION     NM_006383.4
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 1499)
  AUTHORS   Dal Cortivo,G. and Dell'Orco,D.
  TITLE     Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and
            Disease: Bright and Dark Sides
  JOURNAL   Int J Mol Sci 23 (7), 3552 (2022)
   PUBMED   35408910
  REMARK    GeneRIF: Calcium- and Integrin-Binding Protein 2 (CIB2) in
            Physiology and Disease: Bright and Dark Sides.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1499)
  AUTHORS   Liang,X., Qiu,X., Dionne,G., Cunningham,C.L., Pucak,M.L., Peng,G.,
            Kim,Y.H., Lauer,A., Shapiro,L. and Muller,U.
  TITLE     CIB2 and CIB3 are auxiliary subunits of the mechanotransduction
            channel of hair cells
  JOURNAL   Neuron 109 (13), 2131-2149 (2021)
   PUBMED   34089643
  REMARK    GeneRIF: CIB2 and CIB3 are auxiliary subunits of the
            mechanotransduction channel of hair cells.
REFERENCE   3  (bases 1 to 1499)
  AUTHORS   Dal Cortivo,G., Marino,V., Iacobucci,C., Vallone,R., Arlt,C.,
            Rehkamp,A., Sinz,A. and Dell'Orco,D.
  TITLE     Oligomeric state, hydrodynamic properties and target recognition of
            human Calcium and Integrin Binding protein 2 (CIB2)
  JOURNAL   Sci Rep 9 (1), 15058 (2019)
   PUBMED   31636333
  REMARK    GeneRIF: Oligomeric state, hydrodynamic properties and target
            recognition of human Calcium and Integrin Binding protein 2 (CIB2).
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1499)
  AUTHORS   Booth,K.T., Kahrizi,K., Babanejad,M., Daghagh,H., Bademci,G.,
            Arzhangi,S., Zareabdollahi,D., Duman,D., El-Amraoui,A., Tekin,M.,
            Najmabadi,H., Azaiez,H. and Smith,R.J.
  TITLE     Variants in CIB2 cause DFNB48 and not USH1J
  JOURNAL   Clin Genet 93 (4), 812-821 (2018)
   PUBMED   29112224
  REMARK    GeneRIF: This report is the first to show that biallelic LOF
            variants in CIB2 cause ARNSHL and not USH. In the era of precision
            medicine, providing the correct diagnosis (NSHL vs USH) is
            essential for patient care as it impacts potential intervention and
            prevention options for patients
REFERENCE   5  (bases 1 to 1499)
  AUTHORS   Huang,H., Bogstie,J.N. and Vogel,H.J.
  TITLE     Biophysical and structural studies of the human calcium- and
            integrin-binding protein family: understanding their functional
            similarities and differences
  JOURNAL   Biochem Cell Biol 90 (5), 646-656 (2012)
   PUBMED   22779914
  REMARK    GeneRIF: CIB2, as binding partners for the integrin alphaIIb
            subunit, which suggests that they are potentially involved in
            regulating integrin alphaIIb subunit activation.
REFERENCE   6  (bases 1 to 1499)
  AUTHORS   Bastos-Amador,P., Royo,F., Gonzalez,E., Conde-Vancells,J.,
            Palomo-Diez,L., Borras,F.E. and Falcon-Perez,J.M.
  TITLE     Proteomic analysis of microvesicles from plasma of healthy donors
            reveals high individual variability
  JOURNAL   J Proteomics 75 (12), 3574-3584 (2012)
   PUBMED   22516433
REFERENCE   7  (bases 1 to 1499)
  AUTHORS   Ahmad,J., Khan,S.N., Khan,S.Y., Ramzan,K., Riazuddin,S.,
            Ahmed,Z.M., Wilcox,E.R., Friedman,T.B. and Riazuddin,S.
  TITLE     DFNB48, a new nonsyndromic recessive deafness locus, maps to
            chromosome 15q23-q25.1
  JOURNAL   Hum Genet 116 (5), 407-412 (2005)
   PUBMED   15711797
REFERENCE   8  (bases 1 to 1499)
  AUTHORS   Seki,N., Hattori,A., Hayashi,A., Kozuma,S., Ohira,M., Hori,T. and
            Saito,T.
  TITLE     Structure, expression profile and chromosomal location of an isolog
            of DNA-PKcs interacting protein (KIP) gene
  JOURNAL   Biochim Biophys Acta 1444 (1), 143-147 (1999)
   PUBMED   9931475
REFERENCE   9  (bases 1 to 1499)
  AUTHORS   Li,M., Squire,J.A. and Weksberg,R.
  TITLE     Overgrowth syndromes and genomic imprinting: from mouse to man
  JOURNAL   Clin Genet 53 (3), 165-170 (1998)
   PUBMED   9630066
  REMARK    Review article
REFERENCE   10 (bases 1 to 1499)
  AUTHORS   Koenekoop,R.K., Arriaga,M.A., Trzupek,K.M. and Lentz,J.J.
  TITLE     Usher Syndrome Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301442
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090260.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006383.3.
            
            Summary: The protein encoded by this gene is similar to that of
            KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a
            calcium-binding regulatory protein that interacts with
            DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it
            is involved in photoreceptor cell maintenance. Mutations in this
            gene cause deafness, autosomal recessive, 48 (DFNB48), and also
            Usher syndrome 1J (USH1J). Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            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 :: BC057292.1, SRR1163655.478959.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258930.8/ ENSP00000258930.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-281               AC090260.13        68643-68923
            282-316             AC090260.13        76349-76383
            317-428             AC090260.13        88812-88923
            429-576             AC090260.13        90706-90853
            577-772             AC090260.13        94154-94349
            773-1499            AC090260.13        94756-95482
FEATURES             Location/Qualifiers
     source          1..1499
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..1499
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /note="calcium and integrin binding family member 2"
                     /db_xref="GeneID:10518"
                     /db_xref="HGNC:HGNC:24579"
                     /db_xref="MIM:605564"
     exon            1..281
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..794
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DNA-dependent protein kinase catalytic subunit-interacting
                     protein 2"
                     /codon_start=1
                     /product="calcium and integrin-binding family member 2
                     isoform 1"
                     /protein_id="NP_006374.1"
                     /db_xref="CCDS:CCDS10296.1"
                     /db_xref="GeneID:10518"
                     /db_xref="HGNC:HGNC:24579"
                     /db_xref="MIM:605564"
                     /translation="MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPM
                     DYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESA
                     PRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
                     DGKLGFADFEDMIAKAPDFLSTFHIRI"
     exon            282..316
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /inference="alignment:Splign:2.1.0"
     exon            317..428
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /inference="alignment:Splign:2.1.0"
     exon            429..576
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /inference="alignment:Splign:2.1.0"
     exon            577..772
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /inference="alignment:Splign:2.1.0"
     exon            773..1499
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1436..1441
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /note="hexamer: AGTAAA"
     polyA_site      1456
                     /gene="CIB2"
                     /gene_synonym="DFNB48; KIP2; USH1J"
                     /note="major polyA site"
ORIGIN      
        1 ctcttcccgc cggcggcgga gtcgctgccg ctccgggttc ccgtccccgc ctccgagacc
       61 cccgcgcgcc tcctccaggc gagctgcggg gcgggaaggg tccggccacc gtgggccgct
      121 gccagccgcg gggctgccga gggccgcggg cacggggcgc tggctccggg tctggcggcc
      181 gctgatggga gtcggagccc gggcgggcga gcggcggcgc ggcggccacc atggggaaca
      241 agcagaccat cttcaccgaa gagcagctag acaactacca ggactgcacc ttcttcaata
      301 agaaggacat cctcaagctg cattcgcgat tctatgagct ggcccccaac ctcgtcccaa
      361 tggactacag gaagagcccc atcgtccacg tgcccatgag cctcatcatc cagatgccag
      421 agctccggga gaatcccttc aaagaaagga tcgtggcggc gttttccgag gatggtgagg
      481 ggaacctcac tttcaacgac tttgtggaca tgttttccgt gctctgcgag tcggctcccc
      541 gagagctcaa ggcaaactat gccttcaaga tctatgactt caacactgac aacttcatct
      601 gcaaggagga cctggagctg acgctggccc ggctcactaa gtcagagctg gatgaggagg
      661 aggtggtgct tgtgtgcgac aaggtcattg aggaggctga cttggacggt gacggcaagc
      721 tgggctttgc tgacttcgag gacatgattg ccaaggcccc tgacttcctc agcactttcc
      781 acatccggat ctgaggacac tgccgaggct gtaggggcct agaagtccac catcctgccc
      841 tgcagtcaca tgggtgtggc ctccaagctc cccaggaaag cagtggcagc ctctggggtt
      901 tacaccacaa atatatcctg tggccctttc agcaaaaaaa aaaccttaac caggaagggg
      961 gcctgtgaag gttaggaccc ttcccacagc cccgctgtgg tccagccccg ggacccatgg
     1021 cctctctcca ggccctccgc accccgcccc atgccccagt cctttcctac tccagaaatg
     1081 ctccccaccc ccccaaagag ggaaaagcag ataacccaac aggaggtggt ggggtctgac
     1141 gtgtccaagt gctggcagac accctggtca cccaggacag agcggaaaaa aaaaaaagag
     1201 gtcagggttt taacgagcta tgcaatcttt ttccaaaacc caaggttggg ctgcttccca
     1261 cccctgcctg ttccccttct cccggcctcc ttcacaatgt gaagctgtgg gtgcagtggg
     1321 cccaagggct cttgctcctg tctctgcctc tgggtcatga gtaccaccct gcctgcctcc
     1381 ccaacaccgt ggaatcctca ctggtgtgct gtccacagat ttgtgaactc ctggtagtaa
     1441 aacacttttg catccctttg ctctccatgt atgctaatgt taggaaatgt ttgagggta
//
