LOCUS       NM_001748               3366 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens calpain 2 (CAPN2), transcript variant 1, mRNA.
ACCESSION   NM_001748
VERSION     NM_001748.5
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 3366)
  AUTHORS   Qi,Z., Bai,X., Wu,L., Zhang,P., Guo,Z. and Yu,Y.
  TITLE     CAPN2 promotes apalutamide resistance in metastatic
            hormone-sensitive prostate cancer by activating protective
            autophagy
  JOURNAL   J Transl Med 22 (1), 538 (2024)
   PUBMED   38844946
  REMARK    GeneRIF: CAPN2 promotes apalutamide resistance in metastatic
            hormone-sensitive prostate cancer by activating protective
            autophagy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3366)
  AUTHORS   Blue,E.E., White,J.J., Dush,M.K., Gordon,W.W., Wyatt,B.H.,
            White,P., Marvin,C.T., Helle,E., Ojala,T., Priest,J.R.,
            Jenkins,M.M., Almli,L.M., Reefhuis,J., Pangilinan,F., Brody,L.C.,
            McBride,K.L., Garg,V., Shaw,G.M., Romitti,P.A., Nembhard,W.N.,
            Browne,M.L., Werler,M.M., Kay,D.M., Mital,S., Chong,J.X.,
            Nascone-Yoder,N.M. and Bamshad,M.J.
  CONSRTM   National Birth Defects Prevention Study; University of Washington
            Center for Mendelian Genomics
  TITLE     Rare variants in CAPN2 increase risk for isolated hypoplastic left
            heart syndrome
  JOURNAL   HGG Adv 4 (4), 100232 (2023)
   PUBMED   37663545
  REMARK    GeneRIF: Rare variants in CAPN2 increase risk for isolated
            hypoplastic left heart syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3366)
  AUTHORS   Martins,A.C., Rieck,M., Leotti,V.B., Saraiva-Pereira,M.L. and
            Jardim,L.B.
  TITLE     Variants in Genes of Calpain System as Modifiers of Spinocerebellar
            Ataxia Type 3 Phenotype
  JOURNAL   J Mol Neurosci 71 (9), 1906-1913 (2021)
   PUBMED   34191270
  REMARK    GeneRIF: Variants in Genes of Calpain System as Modifiers of
            Spinocerebellar Ataxia Type 3 Phenotype.
REFERENCE   4  (bases 1 to 3366)
  AUTHORS   Rodriguez-Fernandez,L., Company,S., Zaragoza,R., Vina,J.R. and
            Garcia-Trevijano,E.R.
  TITLE     Cleavage and activation of LIM kinase 1 as a novel mechanism for
            calpain 2-mediated regulation of nuclear dynamics
  JOURNAL   Sci Rep 11 (1), 16339 (2021)
   PUBMED   34381117
  REMARK    GeneRIF: Cleavage and activation of LIM kinase 1 as a novel
            mechanism for calpain 2-mediated regulation of nuclear dynamics.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3366)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 3366)
  AUTHORS   Adachi,Y., Kitahara-Ozawa,A., Sugamura,K., Lee,W.J., Yodoi,J.,
            Maki,M., Murachi,T. and Hatanaka,M.
  TITLE     Expression of calpain II gene in human hematopoietic system cells
            infected with human T-cell leukemia virus type I
  JOURNAL   J Biol Chem 267 (27), 19373-19378 (1992)
   PUBMED   1527057
REFERENCE   7  (bases 1 to 3366)
  AUTHORS   Ohno,S., Minoshima,S., Kudoh,J., Fukuyama,R., Shimizu,Y.,
            Ohmi-Imajoh,S., Shimizu,N. and Suzuki,K.
  TITLE     Four genes for the calpain family locate on four distinct human
            chromosomes
  JOURNAL   Cytogenet Cell Genet 53 (4), 225-229 (1990)
   PUBMED   2209092
REFERENCE   8  (bases 1 to 3366)
  AUTHORS   Hata,A., Ohno,S., Akita,Y. and Suzuki,K.
  TITLE     Tandemly reiterated negative enhancer-like elements regulate
            transcription of a human gene for the large subunit of
            calcium-dependent protease
  JOURNAL   J Biol Chem 264 (11), 6404-6411 (1989)
   PUBMED   2539381
REFERENCE   9  (bases 1 to 3366)
  AUTHORS   Imajoh,S., Aoki,K., Ohno,S., Emori,Y., Kawasaki,H., Sugihara,H. and
            Suzuki,K.
  TITLE     Molecular cloning of the cDNA for the large subunit of the
            high-Ca2+-requiring form of human Ca2+-activated neutral protease
  JOURNAL   Biochemistry 27 (21), 8122-8128 (1988)
   PUBMED   2852952
REFERENCE   10 (bases 1 to 3366)
  AUTHORS   Kopp,S.
  TITLE     Reproducibility of response to a questionnaire on symptoms of
            masticatory dysfunction
  JOURNAL   Community Dent Oral Epidemiol 4 (5), 205-209 (1976)
   PUBMED   1067155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099065.2 and AC096542.2.
            
            On Nov 22, 2018 this sequence version replaced NM_001748.4.
            
            Summary: The calpains, calcium-activated neutral proteases, are
            nonlysosomal, intracellular cysteine proteases. The mammalian
            calpains include ubiquitous, stomach-specific, and muscle-specific
            proteins. The ubiquitous enzymes consist of heterodimers with
            distinct large, catalytic subunits associated with a common small,
            regulatory subunit. This gene encodes the large subunit of the
            ubiquitous enzyme, calpain 2. Multiple heterogeneous
            transcriptional start sites in the 5' UTR have been reported. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Mar 2009].
            
            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 :: AF261089.1, SRR1660805.157304.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295006.6/ ENSP00000295006.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-339               AC099065.2         76435-76773
            340-409             AC099065.2         81658-81727
            410-528             AC099065.2         107996-108114
            529-662             AC099065.2         109202-109335
            663-831             AC099065.2         110893-111061
            832-915             AC096542.2         1522-1605
            916-1001            AC096542.2         3373-3458
            1002-1076           AC096542.2         4480-4554
            1077-1237           AC096542.2         5279-5439
            1238-1407           AC096542.2         7963-8132
            1408-1419           AC096542.2         9852-9863
            1420-1631           AC096542.2         11753-11964
            1632-1668           AC096542.2         14064-14100
            1669-1734           AC096542.2         14669-14734
            1735-1792           AC096542.2         16633-16690
            1793-1857           AC096542.2         18850-18914
            1858-1926           AC096542.2         22324-22392
            1927-2005           AC096542.2         22930-23008
            2006-2122           AC096542.2         24292-24408
            2123-2181           AC096542.2         24664-24722
            2182-3366           AC096542.2         27317-28501
FEATURES             Location/Qualifiers
     source          1..3366
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     gene            1..3366
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /note="calpain 2"
                     /db_xref="GeneID:824"
                     /db_xref="HGNC:HGNC:1479"
                     /db_xref="MIM:114230"
     exon            1..339
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..2205
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /EC_number="3.4.22.53"
                     /note="isoform 1 is encoded by transcript variant 1;
                     calpain, large polypeptide L2; calpain 2, large subunit;
                     calpain 2, large [catalytic] subunit; calpain-2 catalytic
                     subunit; calpain M-type; M-calpain; millimolar-calpain;
                     CANP 2; calcium-activated neutral proteinase 2; calpain 2,
                     (m/II) large subunit"
                     /codon_start=1
                     /product="calpain-2 catalytic subunit isoform 1"
                     /protein_id="NP_001739.3"
                     /db_xref="CCDS:CCDS31035.1"
                     /db_xref="GeneID:824"
                     /db_xref="HGNC:HGNC:1479"
                     /db_xref="MIM:114230"
                     /translation="MAGIAAKLAKDREAAEGLGSHDRAIKYLNQDYEALRNECLEAGT
                     LFQDPSFPAIPSALGFKELGPYSSKTRGIEWKRPTEICADPQFIIGGATRTDICQGAL
                     GDCWLLAAIASLTLNEEILARVVPLNQSFQENYAGIFHFQFWQYGEWVEVVVDDRLPT
                     KDGELLFVHSAEGSEFWSALLEKAYAKINGCYEALSGGATTEGFEDFTGGIAEWYELK
                     KPPPNLFKIIQKALQKGSLLGCSIDITSAADSEAITFQKLVKGHAYSVTGAEEVESNG
                     SLQKLIRIRNPWGEVEWTGRWNDNCPSWNTIDPEERERLTRRHEDGEFWMSFSDFLRH
                     YSRLEICNLTPDTLTSDTYKKWKLTKMDGNWRRGSTAGGCRNYPNTFWMNPQYLIKLE
                     EEDEDEEDGESGCTFLVGLIQKHRRRQRKMGEDMHTIGFGIYEVPEELSGQTNIHLSK
                     NFFLTNRARERSDTFINLREVLNRFKLPPGEYILVPSTFEPNKDGDFCIRVFSEKKAD
                     YQAVDDEIEANLEEFDISEDDIDDGFRRLFAQLAGEDAEISAFELQTILRRVLAKRQD
                     IKSDGFSIETCKIMVDMLDSDGSGKLGLKEFYILWTKIQKYQKIYREIDVDRSGTMNS
                     YEMRKALEEAGFKMPCQLHQVIVARFADDQLIIDFDNFVRCLVRLETLFKIFKQLDPE
                     NTGTIELDLISWLCFSVL"
     exon            340..409
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            410..528
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            529..662
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            663..831
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            832..915
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1001
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1076
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1237
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1407
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1419
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1631
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1632..1668
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1669..1734
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..1792
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1793..1857
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1858..1926
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            1927..2005
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2122
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2181
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     exon            2182..3366
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3166..3171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /note="hexamer: AATAAA"
     polyA_site      3192
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /note="major polyA site"
     regulatory      3330..3335
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /note="hexamer: ATTAAA"
     regulatory      3345..3350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /note="hexamer: TATAAA"
     polyA_site      3351
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
     polyA_site      3366
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
ORIGIN      
        1 agtggccgca gcagcgcgcc gggccctggc cgcgccccag ccgagcgcag cgcggagtcg
       61 ccccgacctt tctctgcgca gtacggccgc cgggaccgca gcatggcggg catcgcggcc
      121 aagctggcga aggaccggga ggcggccgag gggctgggct cccacgacag ggccatcaag
      181 tacctcaacc aggactacga ggcgctgcgg aacgagtgcc tggaggccgg gacgctcttc
      241 caggacccgt ccttcccggc catcccctcg gccctgggct tcaaggagtt ggggccctac
      301 tccagcaaaa cccggggcat cgagtggaag cgccccacgg agatctgcgc tgacccccag
      361 tttatcattg gaggagccac ccgcacagac atctgccaag gagccctggg tgactgctgg
      421 ctgctggcag ccattgcctc cctcaccttg aatgaagaaa tcctggctcg agtcgtcccc
      481 ctaaaccaga gcttccagga aaactatgca gggatctttc acttccagtt ctggcaatac
      541 ggcgagtggg tggaggtggt ggtggatgac aggctgccca ccaaggacgg ggagctgctc
      601 tttgtgcatt cagccgaagg gagcgagttc tggagcgccc tgctggagaa ggcatacgcc
      661 aagatcaacg gatgctatga agcgctatca gggggtgcca ccactgaggg cttcgaagac
      721 ttcaccggag gcattgctga gtggtatgag ttgaagaagc cccctcccaa cctgttcaag
      781 atcatccaga aagctctgca aaaaggctct ctccttggct gctccatcga catcaccagc
      841 gccgcggact cggaggccat cacgtttcag aagctggtga aggggcacgc gtactcggtc
      901 accggagccg aggaggttga aagtaacgga agcctacaga aactgatccg catccgaaat
      961 ccctggggag aagtggagtg gacagggcgg tggaatgaca actgcccaag ctggaacact
     1021 atagacccag aggagaggga aaggctgacc agacggcatg aagatggaga attctggatg
     1081 tctttcagtg acttcctgag gcactattcc cgcctggaga tctgtaacct gaccccagac
     1141 actctcacca gcgataccta caagaagtgg aaactcacca aaatggatgg gaactggagg
     1201 cggggctcca ccgcgggagg ttgcaggaac tacccgaaca cattctggat gaaccctcag
     1261 tacctgatca agctggagga ggaggatgag gacgaggagg atggggagag cggctgcacc
     1321 ttcctggtgg ggctcattca gaagcaccga cggcggcaga ggaagatggg cgaggacatg
     1381 cacaccatcg gctttggcat ctatgaggtt ccagaggagt taagtgggca gaccaacatc
     1441 cacctcagca aaaacttctt cctgacgaat cgcgccaggg agcgctcaga caccttcatc
     1501 aacctccggg aggtgctcaa ccgcttcaag ctgccgccag gagagtacat tctcgtgcct
     1561 tccaccttcg aacccaacaa ggatggggat ttctgcatcc gggtcttttc tgaaaagaaa
     1621 gctgactacc aagctgtcga tgatgaaatc gaggccaatc ttgaagagtt cgacatcagc
     1681 gaggatgaca ttgatgatgg attcaggaga ctgtttgccc agttggcagg agaggatgcg
     1741 gagatctctg cctttgagct gcagaccatc ctgagaaggg ttctagcaaa gcgccaagat
     1801 atcaagtcag atggcttcag catcgagaca tgcaaaatta tggttgacat gctagattcg
     1861 gacgggagtg gcaagctggg gctgaaggag ttctacattc tctggacgaa gattcaaaaa
     1921 taccaaaaaa tttaccgaga aatcgacgtt gacaggtctg gtaccatgaa ttcctatgaa
     1981 atgcggaagg cattagaaga agcaggtttc aagatgccct gtcaactcca ccaagtcatc
     2041 gttgctcggt ttgcagatga ccagctcatc atcgattttg ataattttgt tcggtgtttg
     2101 gttcggctgg aaacgctatt caagatattt aagcagctgg atcccgagaa tactggaaca
     2161 atagagctcg accttatctc ttggctctgt ttctcagtac tttgaagtta taactaatct
     2221 gcctgaagac ttctcatgat ggaaaatcag ccaaggacta agcttccata gaaatacact
     2281 ttgtatctgg acctcaaaat tatgggaaca tttacttaaa cggatgatca tagctgaaaa
     2341 taatgatact gtcaatttga gatagcagaa gtttcacaca tcaaagtaaa agatttgcat
     2401 atcattatac taaatgcaaa tgagtcgctt aacccttgac aaggtcaaag aaagctttaa
     2461 atctgtaaat agtatacact ttttactttt acacactttc ctgttcatag caatattaaa
     2521 tcaggaaaaa aaaatgcagg gaggtattta acagctgagc aaaaacattg agtcgctctc
     2581 aaaggacacg aggcccttgg cagggaatat ttaaagcaac ttcaagttta aaatgcagct
     2641 gttgattcta ccaaacaaca gtccaagatt accatttccc atgagccaac tgggaaacat
     2701 ggtatatcat gaagtaatct tgtcaaggca tctggagagt ccaggagaga agactcacct
     2761 ctgtcgcttg ggttaaacaa gagacaggtt ttgtagaata ttgattggta atagtaaatc
     2821 gttctcctta caatcaagtt cttgacccta ttcggcctta tacatctggt cttacaaaga
     2881 ccaaagggat cctgcgcttg atcaactgaa ccagtatgcc aaaaccaggc atccaatttg
     2941 taaaccaatt atgataaagg acaaaataag ctgtttgcca cctcaaaact ttatgaactt
     3001 caccaccact agtgtctgtc catggagtta gaggggacat cacttagaag ttcttataga
     3061 aaggacacaa gtttgtttcc tggctttacc ttgggaaaat gctagcaaca ttatagaaat
     3121 tttgccttgt tgccttatct tcttccaaat gtactgttaa ataaaaataa agggttaccc
     3181 catgcaatca caccatgcca tgttttcctt cctggagggc agccccacag gacggtttat
     3241 gagcacacaa ttatagcttg tttctacttt aacaaggtat gctgcctctg taaattcatg
     3301 tattcaaagg aaaagacacc ttgcctataa ttaaaatgtg gaactataaa attttttaaa
     3361 atccaa
//
