LOCUS       NM_001532               2455 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens solute carrier family 29 member 2 (SLC29A2),
            transcript variant 2, mRNA.
ACCESSION   NM_001532
VERSION     NM_001532.3
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 2455)
  AUTHORS   Chen,C.Y., Chou,F.Y., Chang,Y.G., Ho,C.J., Wu,K.C., Hsu,C.L.,
            Chern,Y. and Lin,C.J.
  TITLE     Deletion of equilibrative nucleoside transporter 2 disturbs energy
            metabolism and exacerbates disease progression in an experimental
            model of Huntington's disease
  JOURNAL   Neurobiol Dis 177, 106004 (2023)
   PUBMED   36669543
  REMARK    GeneRIF: Deletion of equilibrative nucleoside transporter 2
            disturbs energy metabolism and exacerbates disease progression in
            an experimental model of Huntington's disease.
REFERENCE   2  (bases 1 to 2455)
  AUTHORS   Miller,S.R., McGrath,M.E., Zorn,K.M., Ekins,S., Wright,S.H. and
            Cherrington,N.J.
  TITLE     Remdesivir and EIDD-1931 Interact with Human Equilibrative
            Nucleoside Transporters 1 and 2: Implications for Reaching
            SARS-CoV-2 Viral Sanctuary Sites
  JOURNAL   Mol Pharmacol 100 (6), 548-557 (2021)
   PUBMED   34503974
  REMARK    GeneRIF: Remdesivir and EIDD-1931 Interact with Human Equilibrative
            Nucleoside Transporters 1 and 2: Implications for Reaching
            SARS-CoV-2 Viral Sanctuary Sites.
REFERENCE   3  (bases 1 to 2455)
  AUTHORS   Kunou,S., Shimada,K., Takai,M., Sakamoto,A., Aoki,T., Hikita,T.,
            Kagaya,Y., Iwamoto,E., Sanada,M., Shimada,S., Hayakawa,F.,
            Oneyama,C. and Kiyoi,H.
  TITLE     Exosomes secreted from cancer-associated fibroblasts elicit
            anti-pyrimidine drug resistance through modulation of its
            transporter in malignant lymphoma
  JOURNAL   Oncogene 40 (23), 3989-4003 (2021)
   PUBMED   33994542
  REMARK    GeneRIF: Exosomes secreted from cancer-associated fibroblasts
            elicit anti-pyrimidine drug resistance through modulation of its
            transporter in malignant lymphoma.
REFERENCE   4  (bases 1 to 2455)
  AUTHORS   Krys,D., Hamann,I., Wuest,M. and Wuest,F.
  TITLE     Effect of hypoxia on human equilibrative nucleoside transporters
            hENT1 and hENT2 in breast cancer
  JOURNAL   FASEB J 33 (12), 13837-13851 (2019)
   PUBMED   31601121
  REMARK    GeneRIF: Hypoxia did not change expression of either hENT1, hENT2,
            or TK1.
REFERENCE   5  (bases 1 to 2455)
  AUTHORS   Sweeney,M.D., Zhao,Z., Montagne,A., Nelson,A.R. and Zlokovic,B.V.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   6  (bases 1 to 2455)
  AUTHORS   Ward,J.L., Sherali,A., Mo,Z.P. and Tse,C.M.
  TITLE     Kinetic and pharmacological properties of cloned human
            equilibrative nucleoside transporters, ENT1 and ENT2, stably
            expressed in nucleoside transporter-deficient PK15 cells. Ent2
            exhibits a low affinity for guanosine and cytidine but a high
            affinity for inosine
  JOURNAL   J Biol Chem 275 (12), 8375-8381 (2000)
   PUBMED   10722669
REFERENCE   7  (bases 1 to 2455)
  AUTHORS   Crawford,C.R., Patel,D.H., Naeve,C. and Belt,J.A.
  TITLE     Cloning of the human equilibrative, nitrobenzylmercaptopurine
            riboside (NBMPR)-insensitive nucleoside transporter ei by
            functional expression in a transport-deficient cell line
  JOURNAL   J Biol Chem 273 (9), 5288-5293 (1998)
   PUBMED   9478986
  REMARK    GeneRIF: Functional nucleoside transporter in stable and transient
            transfection studies in mammalian cells.
REFERENCE   8  (bases 1 to 2455)
  AUTHORS   Griffiths,M., Yao,S.Y., Abidi,F., Phillips,S.E., Cass,C.E.,
            Young,J.D. and Baldwin,S.A.
  TITLE     Molecular cloning and characterization of a
            nitrobenzylthioinosine-insensitive (ei) equilibrative nucleoside
            transporter from human placenta
  JOURNAL   Biochem J 328 (Pt 3) (Pt 3), 739-743 (1997)
   PUBMED   9396714
REFERENCE   9  (bases 1 to 2455)
  AUTHORS   Williams,J.B., Rexer,B., Sirripurapu,S., John,S., Goldstein,R.,
            Phillips,J.A. 3rd, Haley,L.L., Sait,S.N., Shows,T.B., Smith,C.M.
            and Gerhard,D.S.
  TITLE     The human HNP36 gene is localized to chromosome 11q13 and produces
            alternative transcripts that are not mutated in multiple endocrine
            neoplasia, type 1 (MEN I) syndrome
  JOURNAL   Genomics 42 (2), 325-330 (1997)
   PUBMED   9192854
REFERENCE   10 (bases 1 to 2455)
  AUTHORS   Williams,J.B. and Lanahan,A.A.
  TITLE     A mammalian delayed-early response gene encodes HNP36, a novel,
            conserved nucleolar protein
  JOURNAL   Biochem Biophys Res Commun 213 (1), 325-333 (1995)
   PUBMED   7639753
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001107.5.
            
            On Nov 22, 2018 this sequence version replaced NM_001532.2.
            
            Summary: The uptake of nucleosides by transporters, such as
            SLC29A2, is essential for nucleotide synthesis by salvage pathways
            in cells that lack de novo biosynthetic pathways. Nucleoside
            transport also plays a key role in the regulation of many
            physiologic processes through its effect on adenosine concentration
            at the cell surface (Griffiths et al., 1997 [PubMed
            9396714]).[supplied by OMIM, Nov 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            
            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 :: AF034102.1, SRR11853564.5213.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357440.7/ ENSP00000350024.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-198               AP001107.5         111819-112016       c
            199-280             AP001107.5         111500-111581       c
            281-444             AP001107.5         109625-109788       c
            445-584             AP001107.5         109316-109455       c
            585-719             AP001107.5         108793-108927       c
            720-817             AP001107.5         108028-108125       c
            818-902             AP001107.5         107720-107804       c
            903-1036            AP001107.5         106687-106820       c
            1037-1142           AP001107.5         106382-106487       c
            1143-1228           AP001107.5         106192-106277       c
            1229-1428           AP001107.5         104481-104680       c
            1429-2455           AP001107.5         102777-103803       c
FEATURES             Location/Qualifiers
     source          1..2455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..2455
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /note="solute carrier family 29 member 2"
                     /db_xref="GeneID:3177"
                     /db_xref="HGNC:HGNC:11004"
                     /db_xref="MIM:602110"
     exon            1..198
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..1540
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /note="isoform a is encoded by transcript variant 2;
                     equilibrative nucleoside transporter 2; hydrophobic
                     nucleolar protein, 36kD; 36 kDa nucleolar protein HNP36;
                     nucleoside transporter, ei-type; delayed-early response
                     protein 12; hydrophobic nucleolar protein, 36 kDa;
                     equilibrative NBMPR-insensitive nucleoside transporter;
                     equilibrative nitrobenzylmercaptopurine
                     riboside-insensitive nucleoside transporter; solute
                     carrier family 29 (nucleoside transporters), member 2;
                     solute carrier family 29 (equilibrative nucleoside
                     transporter), member 2"
                     /codon_start=1
                     /product="equilibrative nucleoside transporter 2 isoform
                     a"
                     /protein_id="NP_001523.2"
                     /db_xref="CCDS:CCDS8137.1"
                     /db_xref="GeneID:3177"
                     /db_xref="HGNC:HGNC:11004"
                     /db_xref="MIM:602110"
                     /translation="MARGDAPRDSYHLVGISFFILGLGTLLPWNFFITAIPYFQARLA
                     GAGNSTARILSTNHTGPEDAFNFNNWVTLLSQLPLLLFTLLNSFLYQCVPETVRILGS
                     LLAILLLFALTAALVKVDMSPGPFFSITMASVCFINSFSAVLQGSLFGQLGTMPSTYS
                     TLFLSGQGLAGIFAALAMLLSMASGVDAETSALGYFITPCVGILMSIVCYLSLPHLKF
                     ARYYLANKSSQAQAQELETKAELLQSDENGIPSSPQKVALTLDLDLEKEPESEPDEPQ
                     KPGKPSVFTVFQKIWLTALCLVLVFTVTLSVFPAITAMVTSSTSPGKWSQFFNPICCF
                     LLFNIMDWLGRSLTSYFLWPDEDSRLLPLLVCLRFLFVPLFMLCHVPQRSRLPILFPQ
                     DAYFITFMLLFAVSNGYLVSLTMCLAPRQVLPHEREVAGALMTFFLALGLSCGASLSF
                     LFKALL"
     exon            199..280
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            281..444
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            445..584
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            585..719
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            720..817
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            818..902
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1036
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1142
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1228
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1428
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..2455
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2455
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; hENT2; HNP36"
                     /note="major polyA site"
ORIGIN      
        1 gagacacgcc gaaatccgcc cgaggctacc tgtgcgactc cagccgccct gcaccggaat
       61 ctggggagac ccgccccccg ccccaccggt ctgcggccct ccgccccagc gcaggtgcag
      121 gtgcggcttc tctgcccctt tcaccccagg cgcatccgcc gcggcggcca tggcgcgagg
      181 agacgccccg cgggacagct accacctggt cgggatcagc ttcttcatcc tggggctggg
      241 caccctcctt ccctggaact tcttcatcac cgccatcccg tacttccagg cgcgactggc
      301 cggggccggc aacagcacag ccaggatcct gagcaccaac cacacgggtc ccgaggatgc
      361 cttcaacttc aacaattggg tgacgctgct gtcccagctg cccctgctgc tcttcaccct
      421 cctcaactcc ttcctgtacc agtgcgtccc ggagacggtg cgcattctgg gcagcctgct
      481 ggccatactg ctgctctttg ccctgacagc agcgctggtc aaggtggaca tgagccccgg
      541 acccttcttc tccatcacca tggcctccgt ctgcttcatc aactccttca gtgcagtcct
      601 acagggcagc ctcttcgggc agctgggcac catgccctcc acctacagca ccctcttcct
      661 cagcggccag ggcctggctg ggatctttgc tgcccttgcc atgctcctgt ccatggccag
      721 tggcgtggac gccgagacct ctgccctggg gtactttatc acgccctgtg tgggcatcct
      781 catgtccatc gtgtgttacc tgagcctgcc tcacctgaag tttgcccgct actacctggc
      841 caataaatca tcccaggccc aagctcagga gctggagacc aaagctgagc tcctccagtc
      901 tgatgagaac gggattccca gtagtcccca gaaagtagct ctgaccctgg atcttgacct
      961 ggagaaggag ccggaatcag agccagatga gccccagaag ccaggaaaac cttcagtctt
     1021 cactgtcttc cagaagatct ggctgacagc gctgtgcctt gtgttggtct tcacagtcac
     1081 cctgtccgtc ttccccgcca tcacagccat ggtgaccagc tccaccagtc ctgggaagtg
     1141 gagtcagttc ttcaacccca tctgctgctt cctcctcttc aacatcatgg actggctggg
     1201 acggagcctg acctcttact tcctgtggcc agacgaggac agccggctgc tgcccctgct
     1261 ggtctgcctg cggttcctgt tcgtgcccct cttcatgctg tgccacgtgc cccagaggtc
     1321 ccggctgccc atcctcttcc cacaggatgc ctacttcatc accttcatgc tgctctttgc
     1381 cgtttctaat ggctacctgg tgtccctcac catgtgcctg gcgcccaggc aggtgctgcc
     1441 acacgagagg gaggtggccg gcgccctcat gaccttcttc ctggccctgg gactttcctg
     1501 tggagcctcc ctctccttcc tcttcaaggc gctgctctga agtggcccct ccaggctctt
     1561 tggcagcctc ttctcgacgt ctccttccgg agctgagatc cagcccaggg cgaatggcga
     1621 gcttggctca ggcctctgcg gggtggaggc ccctgggcct gaggctgcca gcagcgggca
     1681 ggagctgctc ttcatccact tggagtgctg tggggaagaa atcaccaccg gtcattctaa
     1741 ccctcaccca ggaatggggg tgactcgcac aagacctcat ggaaagggtg atgactaggg
     1801 aaaagagggt gcagggcacg gctgctcccc accaccaggt ctgcatttgt tcatcatcat
     1861 caggagcaga ggtgaccaga gggttcagag tgggaggcgg ggccagccca ggccaggagc
     1921 gcctcatctt cccaggcctc agccacccag ggtaaaaggt gccagggaag ttgtgggcac
     1981 ctgagaggag gaacagatgt ggaggacctg agggtgctca aagggccagg ctcagcctca
     2041 agcagtgttt tcattgccaa cacttactgt acccactccg cagagcccag ctgggcctgg
     2101 gccccagggc cacagctagc ctgcatgtgt gtactgcact ttacagtttg caaagctctt
     2161 ccatacccac tctctcaccg aagcctaatt gaggctcttg gaaggagtca ggcaaggatt
     2221 gtgcttcccc cattatacag gtgacaaaac tgagtcctgg ggaaagtgac tggtccgtgg
     2281 tagagccggg acccaatccc ctctctctcc tccctgttgg tgctgttctt cctgcccaac
     2341 acctgtttct cttttcctca aggggtttgg ggcaggagcc tgggcactta ctccccgttt
     2401 ttgctgtttc tccttctgac cctgctcttg ggtctaataa ccccatttat ttgta
//
