LOCUS       NM_001375905            6240 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant
            4, mRNA.
ACCESSION   NM_001375905 XM_011531698
VERSION     NM_001375905.1
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 6240)
  AUTHORS   Feng,H., Dong,Y., Chen,K., You,Z., Weng,J., Liang,P. and Shi,F.
  TITLE     Sphingomyelin synthase 2 promotes the stemness of breast cancer
            cells via modulating NF-kappaB signaling pathway
  JOURNAL   J Cancer Res Clin Oncol 150 (2), 46 (2024)
   PUBMED   38285090
  REMARK    GeneRIF: Sphingomyelin synthase 2 promotes the stemness of breast
            cancer cells via modulating NF-kappaB signaling pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6240)
  AUTHORS   Tang,W., Meng,F., Li,M., Li,Y., Xiong,W., Zhang,D. and Yang,B.
  TITLE     Identification of SGMS2 as a molecule involved in natural killer
            cell recruitment and its in-deep analysis in the liver cancer
            microenvironment: Evidence from large populations cohort
  JOURNAL   J Gene Med 26 (1), e3609 (2024)
   PUBMED   37849429
  REMARK    GeneRIF: Identification of SGMS2 as a molecule involved in natural
            killer cell recruitment and its in-deep analysis in the liver
            cancer microenvironment: Evidence from large populations cohort.
REFERENCE   3  (bases 1 to 6240)
  AUTHORS   Pihlstrom,S., Richardt,S., Maatta,K., Pekkinen,M., Olkkonen,V.M.,
            Makitie,O. and Makitie,R.E.
  TITLE     SGMS2 in primary osteoporosis with facial nerve palsy
  JOURNAL   Front Endocrinol (Lausanne) 14, 1224318 (2023)
   PUBMED   37886644
  REMARK    GeneRIF: SGMS2 in primary osteoporosis with facial nerve palsy.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6240)
  AUTHORS   Merkuryeva,E., Markova,T., Tyurin,A., Valeeva,D., Kenis,V.,
            Sumina,M., Sorokin,I., Shchagina,O., Skoblov,M., Nefedova,M.,
            Khusainova,R., Zakharova,E., Dadali,E. and Kutsev,S.
  TITLE     Clinical and Genetic Characteristics of Calvarial Doughnut Lesions
            with Bone Fragility in Three Families with a Reccurent SGMS2 Gene
            Variant
  JOURNAL   Int J Mol Sci 24 (9), 8021 (2023)
   PUBMED   37175737
  REMARK    GeneRIF: Clinical and Genetic Characteristics of Calvarial Doughnut
            Lesions with Bone Fragility in Three Families with a Reccurent
            SGMS2 Gene Variant.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6240)
  AUTHORS   Long,X., Liu,X., Deng,T., Chen,J., Lan,J., Zhang,S., Zhou,M.,
            Guo,D. and Zhou,J.
  TITLE     LARP6 suppresses colorectal cancer progression through
            ZNF267/SGMS2-mediated imbalance of sphingomyelin synthesis
  JOURNAL   J Exp Clin Cancer Res 42 (1), 33 (2023)
   PUBMED   36691044
  REMARK    GeneRIF: LARP6 suppresses colorectal cancer progression through
            ZNF267/SGMS2-mediated imbalance of sphingomyelin synthesis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6240)
  AUTHORS   Villani,M., Subathra,M., Im,Y.B., Choi,Y., Signorelli,P., Del
            Poeta,M. and Luberto,C.
  TITLE     Sphingomyelin synthases regulate production of diacylglycerol at
            the Golgi
  JOURNAL   Biochem J 414 (1), 31-41 (2008)
   PUBMED   18370930
  REMARK    GeneRIF: SMS2 regulates subcellular pools of diacylglycerol-binding
            proteins in the Golgi apparatus.
REFERENCE   7  (bases 1 to 6240)
  AUTHORS   Ding,T., Li,Z., Hailemariam,T., Mukherjee,S., Maxfield,F.R.,
            Wu,M.P. and Jiang,X.C.
  TITLE     SMS overexpression and knockdown: impact on cellular sphingomyelin
            and diacylglycerol metabolism, and cell apoptosis
  JOURNAL   J Lipid Res 49 (2), 376-385 (2008)
   PUBMED   17982138
  REMARK    GeneRIF: SMS2 is a key factor in control of sphingomyelin and
            diacylglycerol metabolism within the cell, and thus it influences
            apoptosis.
REFERENCE   8  (bases 1 to 6240)
  AUTHORS   Li,Z., Hailemariam,T.K., Zhou,H., Li,Y., Duckworth,D.C.,
            Peake,D.A., Zhang,Y., Kuo,M.S., Cao,G. and Jiang,X.C.
  TITLE     Inhibition of sphingomyelin synthase (SMS) affects intracellular
            sphingomyelin accumulation and plasma membrane lipid organization
  JOURNAL   Biochim Biophys Acta 1771 (9), 1186-1194 (2007)
   PUBMED   17616479
  REMARK    GeneRIF: Results indicate that both synthase (SMS)1 and 2
            contribute to sphingomyelin (SM) de novo synthesis and control SM
            levels in the cells and on the cell membrane including plasma
            membrane.
REFERENCE   9  (bases 1 to 6240)
  AUTHORS   Tafesse,F.G., Huitema,K., Hermansson,M., van der Poel,S., van den
            Dikkenberg,J., Uphoff,A., Somerharju,P. and Holthuis,J.C.
  TITLE     Both sphingomyelin synthases SMS1 and SMS2 are required for
            sphingomyelin homeostasis and growth in human HeLa cells
  JOURNAL   J Biol Chem 282 (24), 17537-17547 (2007)
   PUBMED   17449912
  REMARK    GeneRIF: Data show that sphingomyelin synthases SMS1 and SMS2 are
            co-expressed in a variety of cell types and function as the key
            Golgi- and plasma membrane-associated SM synthases in human
            cervical carcinoma HeLa cells, respectively.
REFERENCE   10 (bases 1 to 6240)
  AUTHORS   Huitema,K., van den Dikkenberg,J., Brouwers,J.F. and Holthuis,J.C.
  TITLE     Identification of a family of animal sphingomyelin synthases
  JOURNAL   EMBO J 23 (1), 33-44 (2004)
   PUBMED   14685263
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096564.3.
            
            On Nov 6, 2019 this sequence version replaced XM_011531698.2.
            
            Summary: Sphingomyelin, a major component of cell and Golgi
            membranes, is made by the transfer of phosphocholine from
            phosphatidylcholine onto ceramide, with diacylglycerol as a side
            product. The protein encoded by this gene is an enzyme that
            catalyzes this reaction primarily at the cell membrane. The
            synthesis is reversible, and this enzyme can catalyze the reaction
            in either direction. The encoded protein is required for cell
            growth. Three transcript variants encoding the same protein have
            been found for this gene. There is evidence for more variants, but
            the full-length nature of their transcripts has not been
            determined.[provided by RefSeq, Oct 2008].
            
            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 :: SRR11853567.23235.1,
                                           SRR14038195.2209641.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000690982.1/ ENSP00000508566.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-322               AC096564.3         38377-38698
            323-404             AC096564.3         71917-71998
            405-1103            AC096564.3         108755-109453
            1104-1221           AC096564.3         113020-113137
            1222-1375           AC096564.3         116678-116831
            1376-1542           AC096564.3         122010-122176
            1543-6240           AC096564.3         123795-128492
FEATURES             Location/Qualifiers
     source          1..6240
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..6240
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /note="sphingomyelin synthase 2"
                     /db_xref="GeneID:166929"
                     /db_xref="HGNC:HGNC:28395"
                     /db_xref="MIM:611574"
     exon            1..322
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            323..404
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            405..1103
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             649..1746
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /EC_number="2.7.8.27"
                     /note="isoform 1 is encoded by transcript variant 4;
                     phosphatidylcholine:ceramide cholinephosphotransferase 2;
                     SM synthase"
                     /codon_start=1
                     /product="phosphatidylcholine:ceramide
                     cholinephosphotransferase 2 isoform 1"
                     /protein_id="NP_001362834.1"
                     /db_xref="CCDS:CCDS3677.1"
                     /db_xref="GeneID:166929"
                     /db_xref="HGNC:HGNC:28395"
                     /db_xref="MIM:611574"
                     /translation="MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKS
                     LSSGLRKGTKKYPDYIQIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHE
                     RVPPKELSPPLPDKFFDYIDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFC
                     FIIGTLYLYRCITMYVTTLPVPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSH
                     ILCGDFLFSGHTVTLTLTYLFIKEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTID
                     VIIAYYITTRLFWWYHSMANEKNLKVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFS
                     WPLSWPPGCFKSSCKKYSRVQKIGEDNEKST"
     exon            1104..1221
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1375
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1542
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..6240
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2124..2129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /note="hexamer: AATAAA"
     polyA_site      2146
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /note="major polyA site"
     regulatory      6202..6207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /note="hexamer: AATAAA"
     polyA_site      6240
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /note="major polyA site"
ORIGIN      
        1 actgagcgcc gcgccgtggg ccgagtgggg cggggagacc cagccctcgg cgcgcacgga
       61 gcctggccgg tgctgcagcg ccgccgagtg cggcctcggg ggcggcggcc gcgggaggga
      121 cccggagagc tgcttcccct agtcaggccg cggcgtggga gggcgagacc ccgagcaaac
      181 tttctagcgg cttcggcccg agggtggtga cgcccggggc tggtcgcggc ggctgcggca
      241 gcgggctcca tcccctggca aatccccttc ccgggagcaa gtgccttcag ctgggagtgt
      301 ctggagccct ggccaccagc ggagctgcat cctgtggccc tataacactc ttctccaaaa
      361 ggacctgcca gagactggga gtgttgactg ctgcaaggac caaggtggga tagtaacatc
      421 tttttgaggg aagaattggc ttcctttctt gaaagtggtg aaggtacagc atatagctgc
      481 atggaagaaa cagtaatcgg atggctacct tctacatttt gtattaggaa acaaagtcca
      541 ttgtaagagt ccatgttgat cttggaaata gaaggattga aaaaagctaa atttccacaa
      601 agaacaagaa cttgaccatc tcctttttga tctgaagact aggggacaat ggatatcata
      661 gagacagcaa aacttgaaga acatttggaa aatcaaccca gtgatcctac gaacacttat
      721 gcaagacccg ctgaacctgt tgaagaagaa aacaaaaatg gcaatggtaa acccaagagc
      781 ttatccagtg ggctgcgaaa aggcaccaaa aagtacccgg actatatcca aattgctatg
      841 cccactgaat caaggaacaa atttccacta gagtggtgga aaacgggcat tgccttcata
      901 tatgcagttt tcaacctcgt cttgacaacc gtcatgatca cagttgtaca tgagagggtc
      961 cctcccaagg agcttagccc tccactccca gacaagtttt ttgattacat tgatagggtg
     1021 aaatgggcat tttctgtatc agaaataaat gggattatat tagttggatt atggatcacc
     1081 cagtggctgt ttctgagata caagtcaata gtgggacgca gattctgttt tattattgga
     1141 actttatacc tgtatcgctg cattacaatg tatgttacta ctctacctgt gcctggaatg
     1201 catttccagt gtgctccaaa gctcaatgga gactctcagg caaaagttca acggattcta
     1261 cgattgattt ctggtggtgg attgtccata actggatcac atatcttatg tggagacttc
     1321 ctcttcagcg gtcacacggt tacgctgaca ctgacttatt tgttcatcaa agaatattcg
     1381 cctcgtcact tctggtggta tcatttaatc tgctggctgc tgagtgctgc cgggatcatc
     1441 tgcattcttg tagcacacga acactacact atcgatgtga tcattgctta ttatatcaca
     1501 acacgactgt tttggtggta ccattcaatg gccaatgaaa agaacttgaa ggtctcttca
     1561 cagactaatt tcttatctcg agcatggtgg ttccccatct tttatttttt tgagaaaaat
     1621 gtacaaggct caattccttg ctgcttctcc tggccgctgt cttggcctcc tggctgcttc
     1681 aaatcatcat gcaaaaagta ttcacgggtt cagaagattg gtgaagacaa tgagaaatcg
     1741 acctgaggag caaaacaaag gcatcagctc ttacaccaaa agagttaacg ctgtaaccaa
     1801 aggtatagtt ttgtttttta ttttaggaga actgactggt aaatgaagaa atggaccaaa
     1861 ttttgtgtaa acgattagaa agatgaacaa agtattgccc tttgactggt tttcttcttc
     1921 atcctgagaa agatacattc tcttgcagct cttcattcat tggtgacaag cccccacccc
     1981 gggactttac taatgagctt gttaaagagg tgccaaagaa catattcctc ctttctttat
     2041 tctttctcca ccaaaaccct ctacttcaga attttttcag gatatttttc agcccaaggt
     2101 cagaagaatg tgttaatatt ttaaataaaa tatctggaca tctacagcca ctgtgtaaat
     2161 agaactgcct aatgttgaga gtggttttta gcattaggtt tagcaagggg gagatccgtg
     2221 ggttgtgcgt cagctttggg tgaattttgt ttctaccctg tcacggggaa agttcgggtt
     2281 gagtccagga gtgcacactg ctgctgccac ccaatgcgct acatatcact tttttttgtt
     2341 ttgttttgtt ttgtttttaa aagatcattt tatcttaaaa aggaaagctg atccaagtaa
     2401 acacgaaagt atttgacaca ccccacagat tttacatgtg tgtaaatgtt tcactttaaa
     2461 atctctatga cagatacaca ggaaacatga gatggtttct gctaatgagt ggcccttgag
     2521 tacacactta gatgctgtct gccctgtaaa tttggatctg gtgccccagg gcagtcaact
     2581 cttctagcac aggctgaaaa cacgtgtgtg tcaactgagg ttcacaccac ttggggaatg
     2641 agcctgtttt ctttccaggt caggccctgg tgtgagatca attttagggc tcctaattgg
     2701 agcacagaaa tgtatttggt caaatttcat tgaaggtgat ttcttccttt ttctgttgta
     2761 ctttatggaa aaaccaagat ggaacctgaa agttaatgta tccttgcttt tagcaagaga
     2821 ctcagtttct tataactagt cctaaggaca tatgccgcaa ttgagtaatt ttacttttac
     2881 cctatgaaaa taacatggtg ctgcactata atatactctc ggaatcagtg tgttagttac
     2941 agctatacag tgaaggggga taactgtttc taaatttctt taaggtgatg ccaaaaaatg
     3001 gattaaaaaa tctgatcaga tttaatgtta ccagatttag tgcattattt aatgctattg
     3061 gatcttttgg ataattcttg gcttaatttc ttagctactt gaaggttaat ttgcaagact
     3121 tttaaaacct tagaaaagtt ttaaggttgc aaagttatca acactggggc agagggtgga
     3181 gaggccaatg cgggtagaag gaggcagtta tgtttatatt gaaggtgaaa tttttctttc
     3241 atttagaatg gaaaacatcc ccaaatgtat cattataaac tagtcagcct tgactacaca
     3301 aaattgacct ttaagttgct tgagaaaaac acaatgcaaa tcgttcagaa gggtcaacat
     3361 cctttggtgc taaaatcttg tgtatgtttt cagaatggct ttttctgtat gttatagaat
     3421 aatcactaaa ggaaaggtag ttgaatttaa agtcatgaag caagactctt taattcagtt
     3481 attttaaaca agaattaaaa ccccaaacat ccttggcagg ctttgaagca cacagaattt
     3541 tctagtattt cttattaaat acaccaataa taaacatata cttagtttac ctgatgagtt
     3601 tagacataat tctatataat gttcgcttat attcatttat taactagcaa cacttgtgca
     3661 agaacaaggt attctgcttg aaaacactga tttttaagtt cctgttgccc gattgtaaag
     3721 aaaatcatct gacacagaag cctggatttt gctctcctaa cactggtgtt ttccttgagc
     3781 ctctaattca aataaaacaa actgatacac cttacagcct tattcatctg tgtctggata
     3841 actcactttt catctattga ataagaaaaa gtgtttaaac ttaataaaat aaaaaattgt
     3901 gcaccaatta ctacagatcc ttgaaacagt aagccttgga ttttagtcaa gtaatccagt
     3961 ttttttttaa tttaaaaaaa accatcacct tttaaagaac tttaaaaaca cctgtgatgc
     4021 caatgtggac attgccgctg ccatgtcttt acacgcatgt gtcgtatagc tctgtcatcg
     4081 agttgaggaa gtccatggtt tgcaaataag ggtgggggaa tcaaaatttc aagatggaaa
     4141 aataaaacaa atagtaaaac ccatttacat gtaggaaaga aaagttgagc ttcaacccaa
     4201 tgtgccactt tgatataaaa caagtatgat atatatataa actgaagata taaaacaagt
     4261 atgatcttgc ctttgaaatc ataaatgttt ggggtacctg ttctttgcca gttaagatac
     4321 atatcttatt atctttgttt ttttcaagtc tatgctcctg tttgaagctt ttcctgtaat
     4381 ttaggttgtc tgtgaaatac ctataacata taattcctat agagtatgcc acattttttt
     4441 tctaactcat ttcaaatgaa attctctcag attctagttt ttgagcttgt ccactagatc
     4501 tgaaaataaa gcatcctttc ctgagtccac ttgaactaat tgtgaatttg ttacttaatt
     4561 tactggcatc ttgggaaaca agttttgctg tggcaggaag gctgttttga gagtgagcgt
     4621 tgagtctact ctggtttgtg gatgacattg cattagggtt atttcctgta ttaccagtgc
     4681 ccccttgtgg caatatactt tatgacttgg aatgcaaaca ccacttttaa aagcctgttt
     4741 tcaagttttt gaaaggcatt tgttttctgt tgtttgccaa taatctgaaa gtatcatgtg
     4801 aaaggaatta ttttaaaagc attttaaacc tttcccaaag gtaaaatgtg ctcagattat
     4861 aggcacttgt aattctaacc ttgtatccat ttgatcaaag aaaatttgta gaacattttt
     4921 acctctcatg atcacaatca ttagtgtctc cctttataac gacctatgtt ttgtttactt
     4981 tgaaacacca aatttgttgt cttggttttt tttacatgac agaactcatg cagtttcttt
     5041 tttagttgaa agttcacatc ttgccccttg aatagtttga acatttcttt cttaattctt
     5101 ttttgttttt gttttgcact gtaaaactga tgaaaacttt aagccaatct taatgcacta
     5161 gcctctgtag tgtaaggaag tgtgagaagg agtttcttaa tgagtttaca cgtttaaatc
     5221 aagcatatta taagttatat gccatgtgtt gaaggctttt ctatttatat atataaagat
     5281 ttttagtatt tgtttttagt gtccttgtgt tgcaataatt taactccttt gactcagttg
     5341 ctgaaaatat ttcttctatt aagaagtgct cttgacttca acacccaaac actgaaaatc
     5401 atgtcaatgt tacccaaaga taagttttta tacagataca caccttataa gttctgattt
     5461 attttcttac tcattatgct gtgttctaaa taaatcatga atgagaagag tgctttattg
     5521 tgaaattatt taaaactgtc ctttaaaaga aaaagaggaa acgatgaaca aaaactaatc
     5581 taattgccaa gttagaattc attatttaat ttacctccta tgcaatgatt aatgctgcaa
     5641 aatgtatggt tatgttaccg tatattcaca aaagaaatat tattacaagg tttcagaggt
     5701 agccaattgc attcttttgg aaatttactg tactgtttca atgtgttaag tgccttgttg
     5761 taaagtaaaa ttttaagtct agattcatta ttttcctgac atatattttt cattatgata
     5821 tctactgtat gctattgtga tagttttatg aaatgcttac attttaatca aatatgtaaa
     5881 tttcagaagc tcttttttcc tacccaccag taccttaatc attggtttat cacattggat
     5941 tcaaattcag gttccttttt tgataaagag gaaatttgtt ttccatgctt gtgattttgt
     6001 gtttgtaaac atttcaggag gaatttagga gtgtaactat agtttatact tctataatgt
     6061 tgtcttacat ttacattttt aagtgcctaa ttgttaaaac tgatttatgt ttctcttcta
     6121 aagaggatat gtgtacttgg tttctaatct ctttggtttt gctttttaaa aaatgcaaga
     6181 gcctatactt tgtatttacc taataaacca cagtgacatc aacagtcttt tcaaaattaa
//
