LOCUS       NM_032982               4089 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens caspase 2 (CASP2), transcript variant 1, mRNA.
ACCESSION   NM_032982
VERSION     NM_032982.4
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 4089)
  AUTHORS   Zhdanov,D.D., Gladilina,Y.A. and Shisparenok,A.N.
  TITLE     Apoptotic endonuclease EndoG induces alternative splicing of
            Caspase-2
  JOURNAL   Biomed Khim 70 (4), 218-230 (2024)
   PUBMED   39239896
  REMARK    GeneRIF: Apoptotic endonuclease EndoG induces alternative splicing
            of Caspase-2.
            Review article
REFERENCE   2  (bases 1 to 4089)
  AUTHORS   Bouchier-Hayes,L.
  TITLE     The role of caspase-2 in stress-induced apoptosis
  JOURNAL   J Cell Mol Med 14 (6A), 1212-1224 (2010)
   PUBMED   20158568
  REMARK    GeneRIF: This review discusses recent advances that have been made
            to help elucidate the true role of caspase 2 and the potential
            contribution of caspase-2 to the pathology of human diseases
            including cancer.
            Review article
REFERENCE   3  (bases 1 to 4089)
  AUTHORS   Majumder,P., Raychaudhuri,S., Chattopadhyay,B. and
            Bhattacharyya,N.P.
  TITLE     Increased caspase-2, calpain activations and decreased
            mitochondrial complex II activity in cells expressing exogenous
            huntingtin exon 1 containing CAG repeat in the pathogenic range
  JOURNAL   Cell Mol Neurobiol 27 (8), 1127-1145 (2007)
   PUBMED   17902043
REFERENCE   4  (bases 1 to 4089)
  AUTHORS   Narkilahti,S., Jutila,L., Alafuzoff,I., Karkola,K., Paljarvi,L.,
            Immonen,A., Vapalahti,M., Mervaala,E., Kalviainen,R. and
            Pitkanen,A.
  TITLE     Increased expression of caspase 2 in experimental and human
            temporal lobe epilepsy
  JOURNAL   Neuromolecular Med 9 (2), 129-144 (2007)
   PUBMED   17627033
  REMARK    GeneRIF: Data suggest that caspase 2-mediated programmed cell death
            participates in the seizure-induced degenerative process in
            experimental and human TLE.
REFERENCE   5  (bases 1 to 4089)
  AUTHORS   Martinet,W., Knaapen,M.W., De Meyer,G.R., Herman,A.G. and
            Kockx,M.M.
  TITLE     Overexpression of the anti-apoptotic caspase-2 short isoform in
            macrophage-derived foam cells of human atherosclerotic plaques
  JOURNAL   Am J Pathol 162 (3), 731-736 (2003)
   PUBMED   12598307
  REMARK    GeneRIF: The short isoform is overexpressed in macrophage-derived
            foam cells of human atherosclerotic plaques
REFERENCE   6  (bases 1 to 4089)
  AUTHORS   Logette,E., Wotawa,A., Solier,S., Desoche,L., Solary,E. and
            Corcos,L.
  TITLE     The human caspase-2 gene: alternative promoters, pre-mRNA splicing
            and AUG usage direct isoform-specific expression
  JOURNAL   Oncogene 22 (6), 935-946 (2003)
   PUBMED   12584573
  REMARK    GeneRIF: caspase-2 gene: alternative promoters, pre-mRNA splicing
            and AUG usage direct isoform-specific expression
REFERENCE   7  (bases 1 to 4089)
  AUTHORS   Droin,N., Beauchemin,M., Solary,E. and Bertrand,R.
  TITLE     Identification of a caspase-2 isoform that behaves as an endogenous
            inhibitor of the caspase cascade
  JOURNAL   Cancer Res 60 (24), 7039-7047 (2000)
   PUBMED   11156409
REFERENCE   8  (bases 1 to 4089)
  AUTHORS   Shimohama,S., Tanino,H. and Fujimoto,S.
  TITLE     Changes in caspase expression in Alzheimer's disease: comparison
            with development and aging
  JOURNAL   Biochem Biophys Res Commun 256 (2), 381-384 (1999)
   PUBMED   10079193
REFERENCE   9  (bases 1 to 4089)
  AUTHORS   Kumar,S., White,D.L., Takai,S., Turczynowicz,S., Juttner,C.A. and
            Hughes,T.P.
  TITLE     Apoptosis regulatory gene NEDD2 maps to human chromosome segment
            7q34-35, a region frequently affected in haematological neoplasms
  JOURNAL   Hum Genet 95 (6), 641-644 (1995)
   PUBMED   7789948
REFERENCE   10 (bases 1 to 4089)
  AUTHORS   Wang,L., Miura,M., Bergeron,L., Zhu,H. and Yuan,J.
  TITLE     Ich-1, an Ice/ced-3-related gene, encodes both positive and
            negative regulators of programmed cell death
  JOURNAL   Cell 78 (5), 739-750 (1994)
   PUBMED   8087842
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB455837.1, AK291274.1,
            AC073342.3 and BQ447606.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032982.3.
            
            Summary: This gene encodes a member of the cysteine-aspartic acid
            protease (caspase) family. Caspases mediate cellular apoptosis
            through the proteolytic cleavage of specific protein substrates.
            The encoded protein may function in stress-induced cell death
            pathways, cell cycle maintenance, and the suppression of
            tumorigenesis. Increased expression of this gene may play a role in
            neurodegenerative disorders including Alzheimer's disease,
            Huntington's disease and temporal lobe epilepsy. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1, also known as ICH-1L), which has been shown to function as a
            positive regulator of apoptosis (PMID:8087842).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC002427.2, SRR1163655.545966.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310447.10/ ENSP00000312664.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                DB455837.1         102-173
            73-1846             AK291274.1         1-1774
            1847-3455           AC073342.3         122136-123744
            3456-4089           BQ447606.1         18-651              c
FEATURES             Location/Qualifiers
     source          1..4089
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..4089
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /note="caspase 2"
                     /db_xref="GeneID:835"
                     /db_xref="HGNC:HGNC:1503"
                     /db_xref="MIM:600639"
     exon            1..179
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     CDS             106..1464
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /EC_number="3.4.22.55"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; caspase 2 apoptosis-related cysteine peptidase;
                     protease ICH-1; neural precursor cell expressed
                     developmentally down-regulated protein 2; protein
                     phosphatase 1, regulatory subunit 57"
                     /codon_start=1
                     /product="caspase-2 isoform 1 preproprotein"
                     /protein_id="NP_116764.2"
                     /db_xref="CCDS:CCDS5879.1"
                     /db_xref="GeneID:835"
                     /db_xref="HGNC:HGNC:1503"
                     /db_xref="MIM:600639"
                     /translation="MAAPSAGSWSTFQHKELMAADRGRRILGVCGMHPHHQETLKKNR
                     VVLAKQLLLSELLEHLLEKDIITLEMRELIQAKVGSFSQNVELLNLLPKRGPQAFDAF
                     CEALRETKQGHLEDMLLTTLSGLQHVLPPLSCDYDLSLPFPVCESCPLYKKLRLSTDT
                     VEHSLDNKDGPVCLQVKPCTPEFYQTHFQLAYRLQSRPRGLALVLSNVHFTGEKELEF
                     RSGGDVDHSTLVTLFKLLGYDVHVLCDQTAQEMQEKLQNFAQLPAHRVTDSCIVALLS
                     HGVEGAIYGVDGKLLQLQEVFQLFDNANCPSLQNKPKMFFIQACRGDETDRGVDQQDG
                     KNHAGSPGCEESDAGKEKLPKMRLPTRSDMICGYACLKGTAAMRNTKRGSWYIEALAQ
                     VFSERACDMHVADMLVKVNALIKDREGYAPGTEFHRCKEMSEYCSTLCRHLYLFPGHP
                     PT"
     exon            180..330
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            331..498
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            499..580
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            581..675
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            676..852
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            853..981
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1072
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1222
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1332
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..4089
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4065..4070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /note="hexamer: AATAAA"
     polyA_site      4089
                     /gene="CASP2"
                     /gene_synonym="CASP-2; ICH1; MRT80; NEDD-2; NEDD2;
                     PPP1R57"
                     /note="major polyA site"
ORIGIN      
        1 gcagtgtgcg tccgcgtctg aggggaggga tgtgggggaa gcgacggccc ccggtttgtt
       61 tgggctgtgg gcggtgcgca gcggagagcc cgggaaaagc gggaaatggc ggcgccgagc
      121 gcggggtctt ggtccacctt ccagcacaag gagctgatgg ccgctgacag gggacgcagg
      181 atattgggag tgtgtggcat gcatcctcat catcaggaaa ctctaaaaaa gaaccgagtg
      241 gtgctagcca aacagctgtt gttgagcgaa ttgttagaac atcttctgga gaaggacatc
      301 atcaccttgg aaatgaggga gctcatccag gccaaagtgg gcagtttcag ccagaatgtg
      361 gaactcctca acttgctgcc taagaggggt ccccaagctt ttgatgcctt ctgtgaagca
      421 ctgagggaga ccaagcaagg ccacctggag gatatgttgc tcaccaccct ttctgggctt
      481 cagcatgtac tcccaccgtt gagctgtgac tacgacttga gtctcccttt tccggtgtgt
      541 gagtcctgtc ccctttacaa gaagctccgc ctgtcgacag atactgtgga acactcccta
      601 gacaataaag atggtcctgt ctgccttcag gtgaagcctt gcactcctga attttatcaa
      661 acacacttcc agctggcata taggttgcag tctcggcctc gtggcctagc actggtgttg
      721 agcaatgtgc acttcactgg agagaaagaa ctggaatttc gctctggagg ggatgtggac
      781 cacagtactc tagtcaccct cttcaagctt ttgggctatg acgtccatgt tctatgtgac
      841 cagactgcac aggaaatgca agagaaactg cagaattttg cacagttacc tgcacaccga
      901 gtcacggact cctgcatcgt ggcactcctc tcgcatggtg tggagggcgc catctatggt
      961 gtggatggga aactgctcca gctccaagag gtttttcagc tctttgacaa cgccaactgc
     1021 ccaagcctac agaacaaacc aaaaatgttc ttcatccagg cctgccgtgg agatgagact
     1081 gatcgtgggg ttgaccaaca agatggaaag aaccacgcag gatcccctgg gtgcgaggag
     1141 agtgatgccg gtaaagaaaa gttgccgaag atgagactgc ccacgcgctc agacatgata
     1201 tgcggctatg cctgcctcaa agggactgcc gccatgcgga acaccaaacg aggttcctgg
     1261 tacatcgagg ctcttgctca agtgttttct gagcgggctt gtgatatgca cgtggccgac
     1321 atgctggtta aggtgaacgc acttatcaag gatcgggaag gttatgctcc tggcacagaa
     1381 ttccaccggt gcaaggagat gtctgaatac tgcagcactc tgtgccgcca cctctacctg
     1441 ttcccaggac accctcccac atgatgtcac ctccccatca tccacgccaa gtggaagcca
     1501 ctggaccaca ggaggtgtga tagagccttt gatcttcagg atgcacggtt tctgttctgc
     1561 cccctcaggg atgtgggaat ctcccagact tgtttcctgt gcccatcatc tctgcctttg
     1621 agtgtgggac tccaggccag ctccttttct gtgaagccct ttgcctgtag agccagcctt
     1681 ggttggacct attgccagga atgtttcagc tgcagttgaa gagcctgaca agtgaagttg
     1741 taaacacagt gtggttatgg ggagagggca tataaattcc ccatatttgt gttcagttcc
     1801 agcttttgta gatggcactt tagtgattgc ttttattaca ttagttaaga tgtctgagag
     1861 accatctcct atcttttatt tcattcatat cctccgccct ttttgtccta gagtgagagt
     1921 ttggaaggtg tccaaattta atgtagacat tatcttttgg ctctgaagaa gcaaacatga
     1981 ctagagacgc accttgctgc agtgtccaga agcggcctgt gcgttccctt cagtactgca
     2041 gcgccaccca gtggaaggac actcttggct cgtttgggct caaggcaccg cagcctgtca
     2101 gccaacattg ccttgcattt gtaccttatt gatctttgcc catggaagtc tcaaagatct
     2161 ttcgttggtt gtttctctga gctttgttac tgaaatgagc ctcgtgggga gcatcagaga
     2221 aggccaggaa gaatggtgtg tttccctaga ctctgtaacc acctctctgt ctttttcctt
     2281 cctgagaaac gtccatctct ctcccttact attcccactt tcattcaatc aacctgcact
     2341 tcatatctag atttctagaa aagcttccta gcttatctcc ctgcttcata tctctccctt
     2401 ctttaccttc atttcatcct gttggctgct gccaccaaat ctgtctagaa tcctgcttta
     2461 caggatcatg taaatgctca aagatgtaat gtagttcttt gttcctgctt tctctttcag
     2521 tattaaactc tcctttgata ttatgtggct tttatttcag tgccatacat gttattgttt
     2581 tcaacctaga aacctttatc cctgcttatc tgaaacttcc caacttccct gttctttaag
     2641 actttttttt tttttttttt tttttttgag acagagtctc gctctgtcgc ccaggctgga
     2701 gggcagtggc acgatctcag ctcactgcaa gctccaactc ccgggttcac gccattctcc
     2761 tgcctcagcc ttccaagtag ctgggactac aggtgcccgc caccgtgccc ggctaatttt
     2821 tttgtatttt tagtagagac agggtttcac catgttagcc gggatggtct tgatctcctg
     2881 acctcatgat ccacccacct cagcctccca aagtgttggg attacaggcg tgagccactg
     2941 cgcccgggca agaccttttt ttaaaaaaaa aaaaaaaaaa acttccattc tttcttcctc
     3001 cagtctgttc tcacataaca gagtagtttt ggtttttaat tttttttggt tgtttgctgt
     3061 tttttgtttt ttaaggtgag ttctcactat gtttctcaga ctggtctcga actcctggcc
     3121 tcaagccatc ttcccgcctc agcctctcaa atagctgggc ttacaggcat gagccaccac
     3181 acctggccag gatttggttg tttaaatata aatctgatca cccccctgct tagaaccctt
     3241 ctgctttcta ttacccctca tttaaaatgt aaactcttca ccttggttta tgagaactgg
     3301 ttcttgcctt ccccttgaac ctcattaaat ggtgatttct tgctaagctc cagcccgagt
     3361 ggtctcctct cagcttctaa ttttgtgctc tttcctgccc ttttcctggg ccttctcagc
     3421 tctccacccc caccactctt gactcaggtg gtgtccttct tcctcaagtc ttgacaattc
     3481 ccgggccctt cagtccctga gcagtctact tctgtgtctg tcaccacatc ttgtcttttc
     3541 ccctcattgc atttattgca gtttatatat atgctacttt tacttgttca tttctgtctc
     3601 ccctaccagg ctgtaaatga gggcagaaac cttgtttgtt ttattcacca tcatgtacca
     3661 agtgcttggc acatagtggg ccttcattaa atgtttgttg aataaaagag ggaagaaggc
     3721 aagccaacct tagctacaat cctacctttt gataaaatgt tccttttgac aatatacacg
     3781 gattattatt tgtactttgt ttttccatgt gttttgcttt tatccactgg catttttagc
     3841 tccttgaaga catatcatgt gtgagataac ttccttcaca tctcccatgg tccctagcaa
     3901 aatgctaggc ctgtagtagt caaggtgctc aataaatatt tgtttgggtg gtttgtgagc
     3961 cttgctgcca agtcctgcct ttgggtcgac atagtatgga agtatttgag agagagaacc
     4021 tttccactcc cactgccagg attttgtatt gccatcgggt gccaaataaa tgctcatatt
     4081 tattactga
//
