LOCUS       NM_030922               3227 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens NIPA magnesium transporter 2 (NIPA2), transcript
            variant 1, mRNA.
ACCESSION   NM_030922
VERSION     NM_030922.7
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 3227)
  AUTHORS   Zhao,W., Zhang,W.L., Yang,B., Sun,J. and Yang,M.W.
  TITLE     NIPA2 regulates osteoblast function via its effect on apoptosis
            pathways in type 2 diabetes osteoporosis
  JOURNAL   Biochem Biophys Res Commun 513 (4), 883-890 (2019)
   PUBMED   31003774
  REMARK    GeneRIF: AGEs dose-dependently down-regulated the expression of
            NIPA2 in osteoblasts. NIPA2 also regulated osteoblast apoptosis by
            affecting the intracellular magnesium level and further affecting
            the osteogenic capacity of osteoblasts.
REFERENCE   2  (bases 1 to 3227)
  AUTHORS   Xie,H., Zhang,Y., Zhang,P., Wang,J., Wu,Y., Wu,X., Netoff,T. and
            Jiang,Y.
  TITLE     Functional study of NIPA2 mutations identified from the patients
            with childhood absence epilepsy
  JOURNAL   PLoS One 9 (10), e109749 (2014)
   PUBMED   25347071
  REMARK    GeneRIF: This study primarily reveals that a selective magnesium
            transporter NIPA2 may play a role in the pathogenesis of CAE.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3227)
  AUTHORS   Jiang,Y., Zhang,Y., Zhang,P., Sang,T., Zhang,F., Ji,T., Huang,Q.,
            Xie,H., Du,R., Cai,B., Zhao,H., Wang,J., Wu,Y., Wu,H., Xu,K.,
            Liu,X., Chan,P. and Wu,X.
  TITLE     NIPA2 located in 15q11.2 is mutated in patients with childhood
            absence epilepsy
  JOURNAL   Hum Genet 131 (7), 1217-1224 (2012)
   PUBMED   22367439
  REMARK    GeneRIF: mutations in NIPA2 gene were associated with childhood
            absence epilepsy (CAE), which indicated that the haploinsufficiency
            of NIPA2 might be a candidate mechanism underlying the IGE/CAE
            phenotypes caused by 15q11.2 microdeletions or rare mutations in
            NIPA2
REFERENCE   4  (bases 1 to 3227)
  AUTHORS   Quamme,G.A.
  TITLE     Molecular identification of ancient and modern mammalian magnesium
            transporters
  JOURNAL   Am J Physiol Cell Physiol 298 (3), C407-C429 (2010)
   PUBMED   19940067
  REMARK    Review article
REFERENCE   5  (bases 1 to 3227)
  AUTHORS   Doornbos,M., Sikkema-Raddatz,B., Ruijvenkamp,C.A., Dijkhuizen,T.,
            Bijlsma,E.K., Gijsbers,A.C., Hilhorst-Hofstee,Y., Hordijk,R.,
            Verbruggen,K.T., Kerstjens-Frederikse,W.S., van Essen,T., Kok,K.,
            van Silfhout,A.T., Breuning,M. and van Ravenswaaij-Arts,C.M.
  TITLE     Nine patients with a microdeletion 15q11.2 between breakpoints 1
            and 2 of the Prader-Willi critical region, possibly associated with
            behavioural disturbances
  JOURNAL   Eur J Med Genet 52 (2-3), 108-115 (2009)
   PUBMED   19328872
REFERENCE   6  (bases 1 to 3227)
  AUTHORS   Bittel,D.C., Kibiryeva,N. and Butler,M.G.
  TITLE     Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and
            behavioral outcomes in Prader-Willi syndrome
  JOURNAL   Pediatrics 118 (4), e1276-e1283 (2006)
   PUBMED   16982806
  REMARK    GeneRIF: quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5
            in Prader-Willi syndrome and correlated levels with psychological
            and behavior scales
REFERENCE   7  (bases 1 to 3227)
  AUTHORS   Lefevre,C., Bouadjar,B., Karaduman,A., Jobard,F., Saker,S.,
            Ozguc,M., Lathrop,M., Prud'homme,J.F. and Fischer,J.
  TITLE     Mutations in ichthyin a new gene on chromosome 5q33 in a new form
            of autosomal recessive congenital ichthyosis
  JOURNAL   Hum Mol Genet 13 (20), 2473-2482 (2004)
   PUBMED   15317751
REFERENCE   8  (bases 1 to 3227)
  AUTHORS   Chai,J.H., Locke,D.P., Greally,J.M., Knoll,J.H., Ohta,T., Dunai,J.,
            Yavor,A., Eichler,E.E. and Nicholls,R.D.
  TITLE     Identification of four highly conserved genes between breakpoint
            hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes
            deletion region that have undergone evolutionary transposition
            mediated by flanking duplicons
  JOURNAL   Am J Hum Genet 73 (4), 898-925 (2003)
   PUBMED   14508708
  REMARK    GeneRIF: located in the genomic domain between break points 1 and 2
            on chromosome 15, of the Prader-Willi/Angelman syndromes
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA082125.1, BM544162.1,
            BC000957.3, U90904.1, R56244.1 and AC011767.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_030922.6.
            
            Summary: This gene encodes a possible magnesium transporter. This
            gene is located adjacent to the imprinted domain in the
            Prader-Willi syndrome deletion region of chromosome 15. Alternate
            splicing results in multiple transcript variants. Pseudogenes of
            this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq,
            May 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1, 2, 3 and 4 encode the same isoform (a).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3224244.1,
                                           SRR11853562.10938.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337451.8/ ENSP00000337618.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DA082125.1         26-50
            26-902              BM544162.1         27-903
            903-2241            BC000957.3         99-1437
            2242-2444           U90904.1           1101-1303
            2445-2771           R56244.1           12-338              c
            2772-3227           AC011767.12        31461-31916         c
FEATURES             Location/Qualifiers
     source          1..3227
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..3227
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /note="NIPA magnesium transporter 2"
                     /db_xref="GeneID:81614"
                     /db_xref="HGNC:HGNC:17044"
                     /db_xref="MIM:608146"
     exon            1..256
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     exon            257..392
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     exon            393..514
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     exon            515..746
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             608..1690
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /note="isoform a is encoded by transcript variant 1;
                     magnesium transporter NIPA2; non-imprinted in
                     Prader-Willi/Angelman syndrome region protein 2; non
                     imprinted in Prader-Willi/Angelman syndrome 2"
                     /codon_start=1
                     /product="magnesium transporter NIPA2 isoform a"
                     /protein_id="NP_112184.4"
                     /db_xref="CCDS:CCDS73693.1"
                     /db_xref="GeneID:81614"
                     /db_xref="HGNC:HGNC:17044"
                     /db_xref="MIM:608146"
                     /translation="MSQGRGKYDFYIGLGLAMSSSIFIGGSFILKKKGLLRLARKGSM
                     RAGQGGHAYLKEWLWWAGLLSMGAGEVANFAAYAFAPATLVTPLGALSVLVSAILSSY
                     FLNERLNLHGKIGCLLSILGSTVMVIHAPKEEEIETLNEMSHKLGDPGFVVFATLVVI
                     VALILIFVVGPRHGQTNILVYITICSVIGAFSVSCVKGLGIAIKELFAGKPVLRHPLA
                     WILLLSLIVCVSTQINYLNRALDIFNTSIVTPIYYVFFTTSVLTCSAILFKEWQDMPV
                     DDVIGTLSGFFTIIVGIFLLHAFKDVSFSLASLPVSFRKDEKAMNGNLSNMYEVLNNN
                     EESLTCGIEQHTGENVSRRNGNLTAF"
     exon            747..803
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     exon            804..894
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1055
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..3227
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2546..2551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /note="hexamer: AATAAA"
     polyA_site      2564
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /note="major polyA site"
     regulatory      2747..2752
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /note="hexamer: AATAAA"
     polyA_site      2771
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
     regulatory      3209..3214
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /note="hexamer: AATAAA"
     polyA_site      3227
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
ORIGIN      
        1 cggcgccggc cctaggtccc ggcagcggtg gtgacggcgg tgccggaggt tgtccttggc
       61 aggttttcct cggcgcttct ccatggagga ggcggtgcga acggcttcag ccccgaatgc
      121 tcgcatctcc cactggacgg cgacgaaggc ggtggccgtg cgagcgcagg actgggcggc
      181 ctgtgtgggg gtgtgagccg cggtgcccaa ggctgcgccg gcgaggggaa gccgcgcggc
      241 cggccggccg actagggctg gagctactcg gccagggttt aagactttaa atgagaataa
      301 agggtggtat ttacgaggaa atgagagtga ataagtcatc tctaacctct cccagccttt
      361 ttttcataag agagaccata ttaaacttac atgctctccc ggctgtgata gaccttcagt
      421 tacagagaga gggagcagag tgggaccagg tctgagaata gtgaagcaac tcattccttt
      481 caggacattc cctctgatgt cctattttca aactgtttga agactgcttc attctgcctc
      541 tagtaccagc ggtttctctg ttctgtgatc aatgtgattc acaggaactc cttaagtaac
      601 aaacgaaatg agccaggggc gtggaaaata tgacttctat attggtctgg gattggctat
      661 gagctccagc attttcattg gaggaagttt cattttgaaa aaaaagggcc tccttcgact
      721 tgccaggaaa ggctctatga gagcaggtca aggtggccat gcatatctta aggaatggtt
      781 gtggtgggct ggactgctgt caatgggagc tggtgaggtg gccaacttcg ctgcgtatgc
      841 gtttgcacca gccactctag tgactccact aggagctctc agcgtgctag taagtgccat
      901 tctttcttca tactttctca atgaaagact taatcttcat gggaaaattg ggtgtttgct
      961 aagtattcta ggatctacag ttatggtcat tcatgctcca aaggaagagg agattgagac
     1021 tttaaatgaa atgtctcaca agctaggtga tccaggtttt gtggtctttg caacccttgt
     1081 ggtcattgtg gccttgatat taatcttcgt ggtgggtcct cgccatggac agacaaacat
     1141 tcttgtgtac ataacaatct gctctgtaat cggcgcgttt tcagtctcct gtgtgaaggg
     1201 cctgggcatt gctatcaagg agctgtttgc agggaagcct gtgctgcggc atcccctggc
     1261 ttggattctg ctgctgagcc tcatcgtctg tgtgagcaca cagattaatt acctaaatag
     1321 ggccctggat atattcaaca cttccattgt gactccaata tattatgtat tctttacaac
     1381 atcagtttta acttgttcag ctattctttt taaggagtgg caagatatgc ctgttgacga
     1441 tgtcattggt actttgagtg gcttctttac aatcattgtg gggatattct tgttgcatgc
     1501 ctttaaagac gtcagcttta gtctagcaag tctgcctgtg tcttttcgaa aagacgagaa
     1561 agcaatgaat ggcaatctct ctaatatgta tgaagttctt aataataatg aagaaagctt
     1621 aacctgtgga atcgaacaac acactggtga aaatgtctcc cgaagaaatg gaaatctgac
     1681 agctttttaa gaaaggtgta attaaaggtt aatctgtgat tgttatgaag tgaatttgaa
     1741 tatcatcaga atgtgtctga aaaaacattg tcctcaaata atgttcttta aaggcaatct
     1801 ttttaaagat ttcactaatt tggaccaaga aattactttt cttgtattta aacaaacaat
     1861 ggtagctcac taaaatgacc tcagcacatg acgatttcta ttaacatttt attgttgtag
     1921 aagtatttta cattttcatc ccttctccaa aagccgaatg cactaatgac agttttaagt
     1981 ctatgaaaat gctttatttt ttcattggtg atgaaagtct gaaatgtgca tttgtcatcc
     2041 ccactccatc aatccctgac catgtaaggc ttttttattt taaaaaaaca gagttatccc
     2101 aatacattat cctgtgattt accttaccta caaaagtggc tcctgtttgt ttgatgatga
     2161 ttggttttat ttttgaaata tttattaagg gaaaactaag ttactgaatg aaggaacctc
     2221 tttcttacaa aacaaaaaaa agggcagaaa tcaccccaag gaacgatttc tcaggttgag
     2281 atgatcaccg tgaatccggc ttcctctgag cattcgatgg ccttagcacc tcatcaagcc
     2341 agcacatcct gcctgctgtt gcagcctggc tgggtttatt cttcagttac cctaatccca
     2401 tgatgcctgg aaccttgatt accgttttac atcagctctt gtacttttca gtatattttc
     2461 ataatgagtt atattgtcat ttagactttg aacagctctg ggaaatagaa gactagggtt
     2521 gtttcttaaa tttagctcat gttataataa aaagttgaaa tgaagttctt attctaaaag
     2581 tctgaatgct tagaacaaac ttaacatgtt tatagaatat ggtctctttg taccaagtac
     2641 tttgcttaag agctcctttg ggccactaca tattttggtt tctagaaaat gtttgtttat
     2701 gaagaagtcg atggaaaact gcaaacatat gcagaaaagg tagaataata aaaaaggtct
     2761 aatgaactcc attcagcttt gaacctatcc actcataacc attgactggc ctttaaaaaa
     2821 aagtattggc agaattaatt tccacctagg tgatgggaag aaagtgttcg cctgttccag
     2881 cctgtggctc ctgcctggag gttacccagt ggtgcgccag cgccaagcca tcactccccg
     2941 agggcctccc ctgccaatgg tgctggtatc ccatgcagct caccactggc tgcgtggaaa
     3001 ctcccttttt tccaacttta ttattggcct tctaaggagc tgttttagat gttttttcta
     3061 actgcctcct cccatgccat tttaatacta cagatgtact acgtatctgt ttatatactg
     3121 tacctacatc tgtgctttgt acataaaaga accagttttc tcccccttga ggacagagac
     3181 tcatttgaac atgcataggt taataaataa taaattctta tttaaca
//
