LOCUS       NM_000067               1562 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens carbonic anhydrase 2 (CA2), transcript variant 1,
            mRNA.
ACCESSION   NM_000067
VERSION     NM_000067.3
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 1562)
  AUTHORS   Neelam, Bopardikar,M. and Singh,H.
  TITLE     1H, 15N and 13C resonance assignments of the S2A and H64A double
            mutant of human carbonic anhydrase II
  JOURNAL   Biomol NMR Assign 18 (2), 299-304 (2024)
   PUBMED   39306647
  REMARK    GeneRIF: [1]H, [15]N and [13]C resonance assignments of the S2A and
            H64A double mutant of human carbonic anhydrase II.
REFERENCE   2  (bases 1 to 1562)
  AUTHORS   Neelam and Singh,H.
  TITLE     1H, 15N and13C resonance assignments of S2A mutant of human
            carbonic anhydrase II
  JOURNAL   Biomol NMR Assign 18 (1), 45-49 (2024)
   PUBMED   38520652
  REMARK    GeneRIF: [1]H, [15]N and[13]C resonance assignments of S2A mutant
            of human carbonic anhydrase II.
REFERENCE   3  (bases 1 to 1562)
  AUTHORS   Hull,J.A., Lee,C., Kim,J.K., Lim,S.W., Park,J., Park,S., Lee,S.J.,
            Park,G., Eom,I., Kim,M., Hyun,H., Combs,J.E., Andring,J.T.,
            Lomelino,C., Kim,C.U. and McKenna,R.
  TITLE     XFEL structure of carbonic anhydrase II: a comparative study of
            XFEL, NMR, X-ray and neutron structures
  JOURNAL   Acta Crystallogr D Struct Biol 80 (Pt 3), 194-202 (2024)
   PUBMED   38411550
  REMARK    GeneRIF: XFEL structure of carbonic anhydrase II: a comparative
            study of XFEL, NMR, X-ray and neutron structures.
REFERENCE   4  (bases 1 to 1562)
  AUTHORS   Maurya,N.S., Kushwaha,S., Vetukuri,R.R. and Mani,A.
  TITLE     Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures
            for the Early Detection of Colorectal Cancer: A Comprehensive
            Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms
  JOURNAL   Genes (Basel) 14 (10), 1836 (2023)
   PUBMED   37895185
  REMARK    GeneRIF: Unlocking the Potential of the CA2, CA7, and ITM2C Gene
            Signatures for the Early Detection of Colorectal Cancer: A
            Comprehensive Analysis of RNA-Seq Data by Utilizing Machine
            Learning Algorithms.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1562)
  AUTHORS   Whyte,M.P.
  TITLE     Carbonic anhydrase II deficiency
  JOURNAL   Bone 169, 116684 (2023)
   PUBMED   36709914
  REMARK    GeneRIF: Carbonic anhydrase II deficiency.
REFERENCE   6  (bases 1 to 1562)
  AUTHORS   Mangani,S. and Hakansson,K.
  TITLE     Crystallographic studies of the binding of protonated and
            unprotonated inhibitors to carbonic anhydrase using hydrogen
            sulphide and nitrate anions
  JOURNAL   Eur J Biochem 210 (3), 867-871 (1992)
   PUBMED   1336460
REFERENCE   7  (bases 1 to 1562)
  AUTHORS   Roth,D.E., Venta,P.J., Tashian,R.E. and Sly,W.S.
  TITLE     Molecular basis of human carbonic anhydrase II deficiency
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1804-1808 (1992)
   PUBMED   1542674
REFERENCE   8  (bases 1 to 1562)
  AUTHORS   Hu,P.Y., Roth,D.E., Skaggs,L.A., Venta,P.J., Tashian,R.E.,
            Guibaud,P. and Sly,W.S.
  TITLE     A splice junction mutation in intron 2 of the carbonic anhydrase II
            gene of osteopetrosis patients from Arabic countries
  JOURNAL   Hum Mutat 1 (4), 288-292 (1992)
   PUBMED   1301935
REFERENCE   9  (bases 1 to 1562)
  AUTHORS   Kumpulainen,T.
  TITLE     Immunohistochemical localization of human carbonic anhydrase
            isoenzyme C
  JOURNAL   Histochemistry 62 (3), 271-280 (1979)
   PUBMED   114507
REFERENCE   10 (bases 1 to 1562)
  AUTHORS   Henderson,L.E., Henriksson,D. and Nyman,P.O.
  TITLE     Primary structure of human carbonic anhydrase C
  JOURNAL   J Biol Chem 251 (18), 5457-5463 (1976)
   PUBMED   823150
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA431650.1, J03037.1, M36532.1
            and AC084734.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000067.2.
            
            Summary: The protein encoded by this gene is one of several
            isozymes of carbonic anhydrase, which catalyzes reversible
            hydration of carbon dioxide. Defects in this enzyme are associated
            with osteopetrosis and renal tubular acidosis. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jun 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR3476690.213300.1,
                                           SRR3476690.52551.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285379.10/ ENSP00000285379.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                DA431650.1         113-122
            11-636              J03037.1           1-626
            637-1394            M36532.1           606-1363
            1395-1561           J03037.1           1385-1551
            1562-1562           AC084734.4         50420-50420         c
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.2"
     gene            1..1562
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="carbonic anhydrase 2"
                     /db_xref="GeneID:760"
                     /db_xref="HGNC:HGNC:1373"
                     /db_xref="MIM:611492"
     exon            1..109
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..858
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /EC_number="4.2.1.1"
                     /EC_number="4.2.1.69"
                     /note="isoform 1 is encoded by transcript variant 1;
                     carbonate dehydratase II; epididymis secretory protein Li
                     282; carbonic dehydratase; carbonic anhydrase B; carbonic
                     anhydrase C; carbonic anhydrase II; epididymis luminal
                     protein 76; cyanamide hydratase CA2"
                     /codon_start=1
                     /product="carbonic anhydrase 2 isoform 1"
                     /protein_id="NP_000058.1"
                     /db_xref="CCDS:CCDS6239.1"
                     /db_xref="GeneID:760"
                     /db_xref="HGNC:HGNC:1373"
                     /db_xref="MIM:611492"
                     /translation="MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSL
                     KPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLKGGPLDGTYRLIQFHFHWGSLDG
                     QGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVV
                     DVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVS
                     SEQVLKFRKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK"
     exon            110..307
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /inference="alignment:Splign:2.1.0"
     exon            308..426
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /inference="alignment:Splign:2.1.0"
     exon            427..519
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /inference="alignment:Splign:2.1.0"
     exon            520..582
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /inference="alignment:Splign:2.1.0"
     exon            583..738
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /inference="alignment:Splign:2.1.0"
     exon            739..1562
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1514..1519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="hexamer: AATAAA"
     polyA_site      1562
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="major polyA site"
ORIGIN      
        1 acacagtgca ggcgcccaag ccgccgccgc cagatcggtg ccgattcctg ccctgccccg
       61 accgccagcg cgaccatgtc ccatcactgg gggtacggca aacacaacgg acctgagcac
      121 tggcataagg acttccccat tgccaaggga gagcgccagt cccctgttga catcgacact
      181 catacagcca agtatgaccc ttccctgaag cccctgtctg tttcctatga tcaagcaact
      241 tccctgagga tcctcaacaa tggtcatgct ttcaacgtgg agtttgatga ctctcaggac
      301 aaagcagtgc tcaagggagg acccctggat ggcacttaca gattgattca gtttcacttt
      361 cactggggtt cacttgatgg acaaggttca gagcatactg tggataaaaa gaaatatgct
      421 gcagaacttc acttggttca ctggaacacc aaatatgggg attttgggaa agctgtgcag
      481 caacctgatg gactggccgt tctaggtatt tttttgaagg ttggcagcgc taaaccgggc
      541 cttcagaaag ttgttgatgt gctggattcc attaaaacaa agggcaagag tgctgacttc
      601 actaacttcg atcctcgtgg cctccttcct gaatccttgg attactggac ctacccaggc
      661 tcactgacca cccctcctct tctggaatgt gtgacctgga ttgtgctcaa ggaacccatc
      721 agcgtcagca gcgagcaggt gttgaaattc cgtaaactta acttcaatgg ggagggtgaa
      781 cccgaagaac tgatggtgga caactggcgc ccagctcagc cactgaagaa caggcaaatc
      841 aaagcttcct tcaaataaga tggtcccata gtctgtatcc aaataatgaa tcttcgggtg
      901 tttcccttta gctaagcaca gatctacctt ggtgatttgg accctggttg ctttgtgtct
      961 agttttctag acccttcatc tcttacttga tagacttact aataaaatgt gaagactaga
     1021 ccaattgtca tgcttgacac aactgctgtg gctggttggt gctttgttta tggtagtagt
     1081 ttttctgtaa cacagaatat aggataagaa ataagaataa agtaccttga ctttgttcac
     1141 agcatgtagg gtgatgagca ctcacaattg ttgactaaaa tgctgctttt aaaacatagg
     1201 aaagtagaat ggttgagtgc aaatccatag cacaagataa attgagctag ttaaggcaaa
     1261 tcaggtaaaa tagtcatgat tctatgtaat gtaaaccaga aaaaataaat gttcatgatt
     1321 tcaagatgtt atattaaaga aaaactttaa aaattattat atatttatag caaagttatc
     1381 ttaaatatga attctgttgt aatttaatga cttttgaatt acagagatat aaatgaagta
     1441 ttatctgtaa aaattgttat aattagagtt gtgatacaga gtatatttcc attcagacaa
     1501 tatatcataa cttaataaat attgtatttt agatatattc tctaataaaa ttcagaattc
     1561 ta
//
