LOCUS       NM_014861               3374 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens ATPase secretory pathway Ca2+ transporting 2 (ATP2C2),
            transcript variant 2, mRNA.
ACCESSION   NM_014861 XM_375376
VERSION     NM_014861.4
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 3374)
  AUTHORS   Makena,M.R., Ko,M., Mekile,A.X., Senoo,N., Dang,D.K.,
            Warrington,J., Buckhaults,P., Talbot,C.C. Jr., Claypool,S.M. and
            Rao,R.
  TITLE     Secretory pathway Ca2+-ATPase SPCA2 regulates mitochondrial
            respiration and DNA damage response through store-independent
            calcium entry
  JOURNAL   Redox Biol 50, 102240 (2022)
   PUBMED   35063802
  REMARK    GeneRIF: Secretory pathway Ca(2+)-ATPase SPCA2 regulates
            mitochondrial respiration and DNA damage response through
            store-independent calcium entry.
REFERENCE   2  (bases 1 to 3374)
  AUTHORS   Martinelli,A., Rice,M.L., Talcott,J.B., Diaz,R., Smith,S.,
            Raza,M.H., Snowling,M.J., Hulme,C., Stein,J., Hayiou-Thomas,M.E.,
            Hawi,Z., Kent,L., Pitt,S.J., Newbury,D.F. and Paracchini,S.
  TITLE     A rare missense variant in the ATP2C2 gene is associated with
            language impairment and related measures
  JOURNAL   Hum Mol Genet 30 (12), 1160-1171 (2021)
   PUBMED   33864365
  REMARK    GeneRIF: A rare missense variant in the ATP2C2 gene is associated
            with language impairment and related measures.
REFERENCE   3  (bases 1 to 3374)
  AUTHORS   Liu,J., Wei,Y., Wu,Y., Li,J., Sun,J., Ren,G. and Li,H.
  TITLE     ATP2C2 Has Potential to Define Tumor Microenvironment in Breast
            Cancer
  JOURNAL   Front Immunol 12, 657950 (2021)
   PUBMED   33936088
  REMARK    GeneRIF: ATP2C2 Has Potential to Define Tumor Microenvironment in
            Breast Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3374)
  AUTHORS   Fenech,M.A., Carter,M.M., Stathopulos,P.B. and Pin,C.L.
  TITLE     The pancreas-specific form of secretory pathway calcium ATPase 2
            regulates multiple pathways involved in calcium homeostasis
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1867 (1), 118567 (2020)
   PUBMED   31676354
  REMARK    GeneRIF: SPCA2C influences Ca(2+) homeostasis through multiple
            mechanisms, some of which are independent of Orai1, suggesting
            novel and possibly cell-specific Ca(2+) regulation.
REFERENCE   5  (bases 1 to 3374)
  AUTHORS   Dang,D.K., Makena,M.R., Llongueras,J.P., Prasad,H., Ko,M.,
            Bandral,M. and Rao,R.
  TITLE     A Ca2+-ATPase Regulates E-cadherin Biogenesis and
            Epithelial-Mesenchymal Transition in Breast Cancer Cells
  JOURNAL   Mol Cancer Res 17 (8), 1735-1747 (2019)
   PUBMED   31076498
  REMARK    GeneRIF: Low SPCA2 expression is associated with
            Epithelial-Mesenchymal Transition in Breast Cancer.
REFERENCE   6  (bases 1 to 3374)
  AUTHORS   Dode,L., Andersen,J.P., Vanoevelen,J., Raeymaekers,L., Missiaen,L.,
            Vilsen,B. and Wuytack,F.
  TITLE     Dissection of the functional differences between human secretory
            pathway Ca2+/Mn2+-ATPase (SPCA) 1 and 2 isoenzymes by steady-state
            and transient kinetic analyses
  JOURNAL   J Biol Chem 281 (6), 3182-3189 (2006)
   PUBMED   16332677
  REMARK    GeneRIF: analysis of SPCA1 and SPCA2 isoenzymes by steady-state and
            transient kinetic analyses
REFERENCE   7  (bases 1 to 3374)
  AUTHORS   Vanoevelen,J., Dode,L., Van Baelen,K., Fairclough,R.J.,
            Missiaen,L., Raeymaekers,L. and Wuytack,F.
  TITLE     The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump
            with high affinity for Ca2+ ions
  JOURNAL   J Biol Chem 280 (24), 22800-22808 (2005)
   PUBMED   15831496
  REMARK    GeneRIF: hSPCA2 has the ability to transport Ca(2+) and Mn(2+);
            both its transport and Ca(2+)- and Mn(2+)-dependent phosphoprotein
            intermediate formation functions are insensitive to thapsigargin
            inhibition
REFERENCE   8  (bases 1 to 3374)
  AUTHORS   Xiang,M., Mohamalawari,D. and Rao,R.
  TITLE     A novel isoform of the secretory pathway Ca2+,Mn(2+)-ATPase,
            hSPCA2, has unusual properties and is expressed in the brain
  JOURNAL   J Biol Chem 280 (12), 11608-11614 (2005)
   PUBMED   15677451
  REMARK    GeneRIF: SPCA2 may have a more specialized role in mammalian cells,
            possibly in cellular detoxification of Mn2+ ions.
REFERENCE   9  (bases 1 to 3374)
  AUTHORS   Kuhlbrandt,W.
  TITLE     Biology, structure and mechanism of P-type ATPases
  JOURNAL   Nat Rev Mol Cell Biol 5 (4), 282-295 (2004)
   PUBMED   15071553
  REMARK    Review article
REFERENCE   10 (bases 1 to 3374)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX648333.1 and AY791884.1.
            
            On Feb 27, 2020 this sequence version replaced NM_014861.3.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon, compared to variant 1. The resulting isoform (2) is shorter
            than 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 :: CR749829.1, AK316128.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262429.9/ ENSP00000262429.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-571               BX648333.1         13-583
            572-593             AY791884.1         583-604
            594-1064            BX648333.1         606-1076
            1065-3365           AY791884.1         1076-3376
            3366-3374           BX648333.1         3465-3473
FEATURES             Location/Qualifiers
     source          1..3374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..3374
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /note="ATPase secretory pathway Ca2+ transporting 2"
                     /db_xref="GeneID:9914"
                     /db_xref="HGNC:HGNC:29103"
                     /db_xref="MIM:613082"
     exon            1..177
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..2919
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /EC_number="7.2.2.10"
                     /note="isoform 2 is encoded by transcript variant 2;
                     calcium-transporting ATPase type 2C member 2; secretory
                     pathway calcium ATPase 2; ATPase 2C2; secretory pathway
                     Ca(2+)-ATPase 2; ATPase, Ca++ transporting, type 2C,
                     member 2; Ca(2+)/Mn(2+)-ATPase 2C2; secretory pathway
                     Ca(2+)-transporting ATPase type 2"
                     /codon_start=1
                     /product="calcium-transporting ATPase type 2C member 2
                     isoform 2"
                     /protein_id="NP_055676.3"
                     /db_xref="CCDS:CCDS42207.1"
                     /db_xref="GeneID:9914"
                     /db_xref="HGNC:HGNC:29103"
                     /db_xref="MIM:613082"
                     /translation="MVEGRVSEFLKKLGFSGGGRQYQALEKDEEEALIDEQSELKAIE
                     KEKKVTALPPKEACKCQKEDLARAFCVDLHTGLSEFSVTQRRLAHGWNEFVADNSEPV
                     WKKYLDQFKNPLILLLLGSALVSVLTKEYEDAVSIATAVLVVVTVAFIQEYRSEKSLE
                     ELTKLVPPECNCLREGKLQHLLARELVPGDVVSLSIGDRIPADIRLTEVTDLLVDESS
                     FTGEAEPCSKTDSPLTGGGDLTTLSNIVFMGTLVQYGRGQGVVIGTGESSQFGEVFKM
                     MQAEETPKTPLQKSMDRLGKQLTLFSFGIIGLIMLIGWSQGKQLLSMFTIGVSLAVAA
                     IPEGLPIVVMVTLVLGVLRMAKKRVIVKKLPIVETLGCCSVLCSDKTGTLTANEMTVT
                     QLVTSDGLRAEVSGVGYDGQGTVCLLPSKEVIKEFSNVSVGKLVEAGCVANNAVIRKN
                     AVMGQPTEGALMALAMKMDLSDIKNSYIRKKEIPFSSEQKWMAVKCSLKTEDQEDIYF
                     MKGALEEVIRYCTMYNNGGIPLPLTPQQRSFCLQEEKRMGSLGLRVLALASGPELGRL
                     TFLGLVGIIDPPRVGVKEAVQVLSESGVSVKMITGDALETALAIGRNIGLCNGKLQAM
                     SGEEVDSVEKGELADRVGKVSVFFRTSPKHKLKIIKALQESGAIVAMTGDGVNDAVAL
                     KSADIGIAMGQTGTDVSKEAANMILVDDDFSAIMNAVEEGKGIFYNIKNFVRFQLSTS
                     ISALSLITLSTVFNLPSPLNAMQILWINIIMDGPPAQSLGVEPVDKDAFRQPPRSVRD
                     TILSRALILKILMSAAIIISGTLFIFWKEMPEDRASTPRTTTMTFTCFVFFDLFNALT
                     CRSQTKLIFEIGFLRNHMFLYSVLGSILGQLAVIYIPPLQRVFQTENLGALDLLFLTG
                     LASSVFILSELLKLCEKYCCSPKRVQMHPEDV"
     exon            178..288
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            289..405
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            406..495
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            496..531
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            532..593
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            594..702
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            703..852
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            853..921
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            922..997
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1064
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1189
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1287
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1389
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1479
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1581
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1582..1738
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1909
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1910..2007
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2008..2058
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2059..2225
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2226..2294
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2295..2411
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2412..2559
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2560..2658
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2659..2800
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2801..3374
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3165..3170
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /note="hexamer: ATTAAA"
     polyA_site      3189
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /note="major polyA site"
     regulatory      3347..3352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
                     /note="hexamer: AATAAA"
     polyA_site      3374
                     /gene="ATP2C2"
                     /gene_synonym="SPCA2"
ORIGIN      
        1 aggaggcttg ggcgcgcgca gccatcccgg gcctcgccgg ggacctaggg acgcaggcaa
       61 cgcctgcgcc cgctcaccat ggtcgaggga cgcgtctccg agttcctgaa gaaactcggc
      121 ttctcgggcg ggggccgcca gtaccaggcg ctggagaagg acgaagagga agccttgatt
      181 gatgaacaga gtgagctgaa agccatcgag aaagagaaga aggtgacagc cctgcccccc
      241 aaggaagcgt gcaaatgcca gaaagaggat ttggccagag cgttttgtgt ggacttacac
      301 actgggctgt cggagttctc ggtgacgcag cgccggctgg cccatggctg gaatgagttt
      361 gttgctgaca acagcgaacc tgtgtggaag aaatacctgg atcagtttaa gaaccccctg
      421 atcctgctgc tgctgggctc tgccctggtg agtgtcctca ccaaggagta tgaggacgcc
      481 gtcagcatcg ccacggcagt gcttgtcgtg gtcactgtcg ccttcatcca ggagtacagg
      541 tcggagaaat ctctggaaga gctgaccaag ctggttcctc cagaatgtaa ctgcctaaga
      601 gaaggaaaac tccagcacct gcttgctcga gaactggttc ctggtgatgt cgtatctctc
      661 tcgatcggag accggatccc tgcagacatc cgactcactg aggtcacgga cctcttggtg
      721 gatgaatcca gtttcaccgg ggaagccgag ccatgtagta aaacagacag ccccttgaca
      781 ggcggtgggg acctcaccac cctcagcaac atcgtcttca tggggaccct ggtgcagtat
      841 gggaggggcc agggggtcgt gattggaaca ggggaaagct ctcagttcgg agaagtgttt
      901 aagatgatgc aggctgaaga gacacctaaa actcctttgc agaaaagcat ggacaggcta
      961 ggaaagcaac tgacactctt ctcctttggc ataatcggtc tcatcatgct cattggctgg
     1021 tcgcaaggga aacaactcct gagtatgttc acgatcgggg tcagcctggc tgtggcggcc
     1081 attccagagg gtctgcccat cgtcgtcatg gtgacgctgg tcctgggagt gctgcggatg
     1141 gccaagaagc gggtcatcgt gaagaagtta cccatcgtgg agactttagg ttgctgcagc
     1201 gttctctgtt ctgacaagac ggggactctg actgccaatg aaatgacagt gacccagctt
     1261 gtaacgtcag atgggcttcg tgccgaggtc agcggagttg ggtatgacgg tcaagggact
     1321 gtgtgtcttc taccatccaa ggaagtcatt aaggaatttt ccaatgtctc agtgggaaag
     1381 ttagtggagg cgggctgtgt tgccaacaat gcggtcatca gaaagaacgc cgtgatgggg
     1441 cagcccaccg agggtgcatt gatggccctg gcgatgaaga tggacttaag tgatattaaa
     1501 aattcatata taagaaaaaa agagattcca ttcagttcag agcagaagtg gatggcggtg
     1561 aaatgcagtc tgaagactga ggatcaggaa gacatttact tcatgaaagg ggccttggaa
     1621 gaggtgatcc gctactgcac catgtacaac aacgggggca tccccctgcc gctgacgccc
     1681 cagcagaggt cattctgcct gcaggaagag aagaggatgg ggtcgctcgg tttgcgggtg
     1741 ctggccctgg cttctgggcc cgagctgggg cggctgacgt ttctcggtct tgtgggcatc
     1801 attgaccccc cgagagttgg cgtgaaggaa gcagtccagg ttctctccga gtctggtgtg
     1861 tctgtgaaga tgataacggg ggatgccctg gagacggcct tggccatagg aagaaacatc
     1921 ggcctgtgca acgggaagct gcaagccatg tccggggagg aggtggacag cgtggagaag
     1981 ggcgagctgg ccgaccgcgt ggggaaggtg tccgtgttct tcaggaccag cccaaagcac
     2041 aagctcaaaa tcatcaaggc tctgcaggag tcaggggcga tcgtggccat gactggggat
     2101 ggggtgaacg acgcagtggc cctgaagtct gcagacattg ggatcgccat ggggcagaca
     2161 gggacggacg tcagcaaaga ggccgccaac atgatcctgg tggatgatga cttctcagcc
     2221 atcatgaatg cagtggagga aggcaagggt attttttaca acatcaaaaa ctttgtccga
     2281 ttccagctga gcacgagcat ctccgccctg agtctcatca ctctgtccac cgtgttcaac
     2341 ctgcccagcc ccctcaacgc catgcagatc ctatggatca acatcatcat ggatgggcca
     2401 ccggcgcaga gcttgggggt agagcccgtt gacaaagacg ccttcaggca gccaccacgg
     2461 agtgtgcggg acaccatcct cagcagagcc ctcatcctga agatcctcat gtccgcggcc
     2521 atcatcatca gcgggaccct ctttatcttc tggaaggaga tgcctgaaga cagagcaagc
     2581 actccccgca ccacgacgat gacgttcact tgttttgtgt ttttcgatct cttcaacgcc
     2641 ttgacctgcc gctctcagac caagctgata tttgagatcg gctttctcag gaaccacatg
     2701 ttcctctact ccgtcctggg gtccatcctg gggcagctgg cggtcattta catccccccg
     2761 ctgcagaggg tcttccagac ggagaacctg ggagcgcttg atttgctgtt tttaactgga
     2821 ttggcctcat ccgtcttcat tttgtcagag ctcctcaaac tatgtgaaaa atactgttgc
     2881 agccccaaga gagtccagat gcaccctgaa gatgtgtagt ggaccgcact ccgcggcacc
     2941 ttccctaatc atctcgatct ggttgtgact gtggcccctg ccgtgtctcc tcgtcagggg
     3001 agacttttag gaggccgcag ccttccatca ccggatcagt ttttcctctt aggaaagctg
     3061 caggaacctc gtgggctcca gggacccagg cccacatcca tccagcgttc ccgctggctg
     3121 tgggacagac agggaggggc ctgtacagaa acaccacact gtttattaaa tcacaatgat
     3181 ttttattaac catgtctaac tacgtatctg tgccacagct tgcagtgagg caggccactc
     3241 gtggcagata caaggggctc ctgagaggca gtgggtagga tggtcacact ctgcccattg
     3301 ccctcctgga ggccccattt cctcatcata aaatgaggga cttttaaata aagtgctatg
     3361 ccgggggata atta
//
