LOCUS       NM_001740               1454 bp    mRNA    linear   PRI 01-JUL-2024
DEFINITION  Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.
ACCESSION   NM_001740
VERSION     NM_001740.5
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 1454)
  AUTHORS   Kapur,R.P.
  TITLE     Expression of Calretinin in the Cecal Muscularis Interna:
            Observation and Hypothetical Relevance to Appendicitis
  JOURNAL   Pediatr Dev Pathol 27 (3), 241-254 (2024)
   PUBMED   38549265
  REMARK    GeneRIF: Expression of Calretinin in the Cecal Muscularis Interna:
            Observation and Hypothetical Relevance to Appendicitis.
REFERENCE   2  (bases 1 to 1454)
  AUTHORS   Machuca-Aguado,J. and McCluggage,W.G.
  TITLE     'Deciduoid' Change in Uterine Leiomyomas in Pregnancy: Aberrant
            Expression of Sex Cord Markers Inhibin and Calretinin
  JOURNAL   Int J Gynecol Pathol 43 (2), 176-181 (2024)
   PUBMED   37562064
  REMARK    GeneRIF: 'Deciduoid' Change in Uterine Leiomyomas in Pregnancy:
            Aberrant Expression of Sex Cord Markers Inhibin and Calretinin.
REFERENCE   3  (bases 1 to 1454)
  AUTHORS   Zupanc,C., Franko,A., Strbac,D., Kovac,V., Dolzan,V. and Goricar,K.
  TITLE     Serum Calretinin and Genetic Variability as a Prognostic and
            Predictive Factor in Malignant Mesothelioma
  JOURNAL   Int J Mol Sci 25 (1), 190 (2023)
   PUBMED   38203360
  REMARK    GeneRIF: Serum Calretinin and Genetic Variability as a Prognostic
            and Predictive Factor in Malignant Mesothelioma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1454)
  AUTHORS   Chu,H., Zhao,Q., Shan,Y., Zhang,S., Sui,Z., Li,X., Fang,F.,
            Zhao,B., Zhong,S., Liang,Z., Zhang,L. and Zhang,Y.
  TITLE     All-Ion Monitoring-Directed Low-Abundance Protein Quantification
            Reveals CALB2 as a Key Promoter in Hepatocellular Carcinoma
            Metastasis
  JOURNAL   Anal Chem 94 (16), 6102-6111 (2022)
   PUBMED   35333527
  REMARK    GeneRIF: All-Ion Monitoring-Directed Low-Abundance Protein
            Quantification Reveals CALB2 as a Key Promoter in Hepatocellular
            Carcinoma Metastasis.
REFERENCE   5  (bases 1 to 1454)
  AUTHORS   Schwaller,B., Celio,M.R. and Hunziker,W.
  TITLE     Alternative splicing of calretinin mRNA leads to different forms of
            calretinin
  JOURNAL   Eur J Biochem 230 (2), 424-430 (1995)
   PUBMED   7607211
REFERENCE   6  (bases 1 to 1454)
  AUTHORS   Chen,L.Z., Harris,P.C., Apostolou,S., Baker,E., Holman,K.,
            Lane,S.A., Nancarrow,J.K., Whitmore,S.A., Stallings,R.L.,
            Hildebrand,C.E. et al.
  TITLE     A refined physical map of the long arm of human chromosome 16
  JOURNAL   Genomics 10 (2), 308-312 (1991)
   PUBMED   2071140
REFERENCE   7  (bases 1 to 1454)
  AUTHORS   Parmentier,M. and Lefort,A.
  TITLE     Structure of the human brain calcium-binding protein calretinin and
            its expression in bacteria
  JOURNAL   Eur J Biochem 196 (1), 79-85 (1991)
   PUBMED   2001709
REFERENCE   8  (bases 1 to 1454)
  AUTHORS   Parmentier,M., Passage,E., Vassart,G. and Mattei,M.G.
  TITLE     The human calbindin D28k (CALB1) and calretinin (CALB2) genes are
            located at 8q21.3----q22.1 and 16q22----q23, respectively,
            suggesting a common duplication with the carbonic anhydrase isozyme
            loci
  JOURNAL   Cytogenet Cell Genet 57 (1), 41-43 (1991)
   PUBMED   1906795
REFERENCE   9  (bases 1 to 1454)
  AUTHORS   Parmentier,M.
  TITLE     The human calbindins: cDNA and gene cloning
  JOURNAL   Adv Exp Med Biol 255, 233-240 (1989)
   PUBMED   2618861
REFERENCE   10 (bases 1 to 1454)
  AUTHORS   Parmentier,M., Szpirer,J., Levan,G. and Vassart,G.
  TITLE     The human genes for calbindin 27 and 29 kDa proteins are located on
            chromosomes 8 and 16, respectively
  JOURNAL   Cytogenet Cell Genet 52 (1-2), 85-87 (1989)
   PUBMED   2612220
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK222495.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001740.4.
            
            Summary: This gene encodes an intracellular calcium-binding protein
            belonging to the troponin C superfamily. Members of this protein
            family have six EF-hand domains which bind calcium. This protein
            plays a role in diverse cellular functions, including message
            targeting and intracellular calcium buffering. It also functions as
            a modulator of neuronal excitability, and is a diagnostic marker
            for some human diseases, including Hirschsprung disease and some
            cancers. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (isoform 1), which has also been designated as the full-length
            isoform.
            
            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 :: AK222495.1, AK222648.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302628.9/ ENSP00000307508.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1454              AK222495.1         1-1454
FEATURES             Location/Qualifiers
     source          1..1454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     gene            1..1454
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /note="calbindin 2"
                     /db_xref="GeneID:794"
                     /db_xref="HGNC:HGNC:1435"
                     /db_xref="MIM:114051"
     exon            1..164
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..886
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /note="isoform 1 is encoded by transcript variant CALB2;
                     calbindin D29K; calbindin 2, (29kD, calretinin); 29 kDa
                     calbindin; testicular secretory protein Li 8"
                     /codon_start=1
                     /product="calretinin isoform 1"
                     /protein_id="NP_001731.2"
                     /db_xref="CCDS:CCDS10899.1"
                     /db_xref="GeneID:794"
                     /db_xref="HGNC:HGNC:1435"
                     /db_xref="MIM:114051"
                     /translation="MAGPQQQPPYLHLAELTASQFLEIWKHFDADGNGYIEGKELENF
                     FQELEKARKGSGMMSKSDNFGEKMKEFMQKYDKNSDGKIEMAELAQILPTEENFLLCF
                     RQHVGSSAEFMEAWRKYDTDRSGYIEANELKGFLSDLLKKANRPYDEPKLQEYTQTIL
                     RMFDLNGDGKLGLSEMSRLLPVQENFLLKFQGMKLTSEEFNAIFTFYDKDRSGYIDEH
                     ELDALLKDLYEKNKKEMNIQQLTNYRKSVMSLAEAGKLYRKDLEIVLCSEPPM"
     exon            165..241
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            242..331
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            332..412
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            413..469
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            470..547
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            548..603
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            604..643
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            644..697
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            698..769
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     exon            770..1454
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1422..1427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /note="hexamer: AATAAA"
     polyA_site      1454
                     /gene="CALB2"
                     /gene_synonym="CAB29; CAL2; CR"
                     /note="major polyA site"
ORIGIN      
        1 agcgcgagtg ccagagccca gccggcgcgg agcgggagcg gtgcaggctg aggtctccga
       61 gcggctcgcc atggctggcc cgcagcagca gcccccttac ctgcacctgg ccgagctgac
      121 ggcgtcccag ttcctggaaa tatggaagca ctttgacgca gacggaaatg ggtatattga
      181 aggtaaagag ctagaaaact ttttccaaga gctggagaag gcaaggaaag gctctggcat
      241 gatgtcaaag agtgacaact ttggagaaaa gatgaaggag ttcatgcaga agtatgataa
      301 aaactcagat gggaaaatcg agatggcaga gctggcgcag atcctgccaa ccgaagagaa
      361 cttccttctg tgcttcaggc agcacgtggg ctccagcgcc gagtttatgg aggcttggcg
      421 gaagtacgac acagacagga gtggctacat cgaagccaat gagctcaagg gattcctgtc
      481 agacctgctg aagaaggcga accggccgta cgatgagccc aagctccagg aatacaccca
      541 aaccatacta cggatgtttg acttgaacgg ggatggcaaa ttgggcctct cagagatgtc
      601 ccgactcctg cctgtccagg aaaacttcct gcttaaattt cagggcatga agctgacctc
      661 agaggagttt aacgcgatct tcacatttta cgacaaggat agaagcggct acattgacga
      721 gcatgagctg gatgcccttt tgaaggatct gtacgagaaa aacaaaaagg aaatgaatat
      781 tcaacagctc accaactaca gaaagagcgt catgtccttg gcagaggcag ggaagctcta
      841 ccgcaaggac ctggagattg tgctctgcag cgagcccccc atgtaaagtg gggacggggg
      901 ctgcttctcc acctccccca aaccctgctt ctgctgccct gatgcgtcta cccagactca
      961 gagaccgtga gcgccccgcc cccaccccta cagcctgcac acacctgcct gcagagcagg
     1021 aaatgagaga tagaggatgg gcagctgggg ggctgtcctg agccccctgc acccacccct
     1081 gcccaggcag tctttgctca gtggatcaca cacatggaag gtgatggggg catgggtgga
     1141 gggtccctaa ttctcttcgc tgtgatgcat gagctccctc gctgtatgat ttaggcttct
     1201 atgtccaaca gagtggactc ttccctctcg ctcccctctg ccggtccccc atgccaccac
     1261 ccaccccaaa cttccaggtt ccatccacca ccttgccaat ggtgtagctg tcctctcaga
     1321 actcctgtgt gtggaaggca cccgcccttt ccttgccttc tttactcggc gtgctccttt
     1381 tctctttggg tttcttgttt accaaagaag agtttacaga caataaaatg gaaaggtcct
     1441 gctgtggaaa ctta
//
