LOCUS       NM_001004434            3249 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens solute carrier family 30 member 2 (SLC30A2),
            transcript variant 1, mRNA.
ACCESSION   NM_001004434
VERSION     NM_001004434.3
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 3249)
  AUTHORS   Escobar,A., Styrpejko,D.J., Ali,S. and Cuajungco,M.P.
  TITLE     Transmembrane 163 (TMEM163) protein interacts with specific
            mammalian SLC30 zinc efflux transporter family members
  JOURNAL   Biochem Biophys Rep 32, 101362 (2022)
   PUBMED   36204728
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3249)
  AUTHORS   Kelleher,S.L., Alam,S., Rivera,O.C., Barber-Zucker,S., Zarivach,R.,
            Wagatsuma,T., Kambe,T., Soybel,D.I., Wright,J. and Lamendella,R.
  TITLE     Loss-of-function SLC30A2 mutants are associated with gut dysbiosis
            and alterations in intestinal gene expression in preterm infants
  JOURNAL   Gut Microbes 14 (1), 2014739 (2022)
   PUBMED   34965180
  REMARK    GeneRIF: Loss-of-function SLC30A2 mutants are associated with gut
            dysbiosis and alterations in intestinal gene expression in preterm
            infants.
REFERENCE   3  (bases 1 to 3249)
  AUTHORS   Rivera,O.C., Geddes,D.T., Barber-Zucker,S., Zarivach,R., Gagnon,A.,
            Soybel,D.I. and Kelleher,S.L.
  TITLE     A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is
            present in women with low milk volume and alters lysosome function
            and cell energetics
  JOURNAL   Am J Physiol Cell Physiol 318 (6), C1166-C1177 (2020)
   PUBMED   32320289
  REMARK    GeneRIF: Thr288Ser mutation in SLC30A2/ZnT2 impairs critical
            functions of mammary epithelial cells, resulting in milk volume and
            altering lysosome function and cell energetics.
REFERENCE   4  (bases 1 to 3249)
  AUTHORS   Li,Z., Wang,J., Yang,Y. and Wang,S.
  TITLE     A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a
            cause of transient neonatal zinc deficiency
  JOURNAL   Exp Dermatol 29 (6), 556-561 (2020)
   PUBMED   32278324
  REMARK    GeneRIF: A novel homozygous mutation p.E88K in maternal SLC30A2
            gene as a cause of transient neonatal zinc deficiency.
REFERENCE   5  (bases 1 to 3249)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3249)
  AUTHORS   Overbeck,S., Uciechowski,P., Ackland,M.L., Ford,D. and Rink,L.
  TITLE     Intracellular zinc homeostasis in leukocyte subsets is regulated by
            different expression of zinc exporters ZnT-1 to ZnT-9
  JOURNAL   J Leukoc Biol 83 (2), 368-380 (2008)
   PUBMED   17971500
  REMARK    GeneRIF: hZnT-2 was not detectable in leukocytes.
REFERENCE   7  (bases 1 to 3249)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   8  (bases 1 to 3249)
  AUTHORS   Falcon-Perez,J.M. and Dell'Angelica,E.C.
  TITLE     Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect
            of adaptor protein 3-depleted fibroblasts by promoting zinc
            accumulation in lysosomes
  JOURNAL   Exp Cell Res 313 (7), 1473-1483 (2007)
   PUBMED   17349999
  REMARK    GeneRIF: ZnT2 can facilitate vesicular zinc accumulation
            independently of AP-3 function, and validate the M1 fibroblastoid
            line as a human cell culture system amenable to the study of
            vesicular zinc regulation.
REFERENCE   9  (bases 1 to 3249)
  AUTHORS   Chowanadisai,W., Lonnerdal,B. and Kelleher,S.L.
  TITLE     Identification of a mutation in SLC30A2 (ZnT-2) in women with low
            milk zinc concentration that results in transient neonatal zinc
            deficiency
  JOURNAL   J Biol Chem 281 (51), 39699-39707 (2006)
   PUBMED   17065149
  REMARK    GeneRIF: a mutation in SLC30A2 (ZnT-2) may have a role in transient
            neonatal zinc deficiency
REFERENCE   10 (bases 1 to 3249)
  AUTHORS   Palmiter,R.D., Cole,T.B. and Findley,S.D.
  TITLE     ZnT-2, a mammalian protein that confers resistance to zinc by
            facilitating vesicular sequestration
  JOURNAL   EMBO J 15 (8), 1784-1791 (1996)
   PUBMED   8617223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR004258.1, AF370409.1,
            AL391650.18 and AI161067.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001004434.2.
            
            Summary: The protein encoded by this gene is a zinc transporter
            that acts as a homodimer. The encoded protein plays a role in
            secreting zinc into breast milk. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Aug 2015].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AF370409.1, ERR279833.8297.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374276.4/ ENSP00000363394.3
            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
            1-133               DR004258.1         28-160
            134-1442            AF370409.1         1-1309
            1443-1443           AL391650.18        24559-24559         c
            1444-1617           AF370409.1         1311-1484
            1618-1618           AL391650.18        24384-24384         c
            1619-2058           AF370409.1         1486-1925
            2059-2479           AI161067.1         8-428               c
            2480-3249           AL391650.18        22753-23522         c
FEATURES             Location/Qualifiers
     source          1..3249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..3249
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="solute carrier family 30 member 2"
                     /db_xref="GeneID:7780"
                     /db_xref="HGNC:HGNC:11013"
                     /db_xref="MIM:609617"
     exon            1..272
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             223..1341
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     transporter 2; solute carrier family 30 (zinc
                     transporter), member 2; proton-coupled zinc antiporter
                     SLC30A2"
                     /codon_start=1
                     /product="proton-coupled zinc antiporter SLC30A2 isoform
                     1"
                     /protein_id="NP_001004434.1"
                     /db_xref="CCDS:CCDS30644.1"
                     /db_xref="GeneID:7780"
                     /db_xref="HGNC:HGNC:11013"
                     /db_xref="MIM:609617"
                     /translation="MEAKEKQHLLDARPAIRSYTGSLWQEGAGWIPLPRPGLDLQAIE
                     LAAQSNHHCHAQKGPDSHCDPKKGKAQRQLYVASAICLLFMIGEVVGGYLAHSLAVMT
                     DAAHLLTDFASMLISLFSLWMSSRPATKTMNFGWQRAEILGALVSVLSIWVVTGVLVY
                     LAVERLISGDYEIDGGTMLITSGCAVAVNIIMGLTLHQSGHGHSHGTTNQQEENPSVR
                     AAFIHVIGDFMQSMGVLVAAYILYFKPEYKYVDPICTFVFSILVLGTTLTILRDVILV
                     LMEGTPKGVDFTAVRDLLLSVEGVEALHSLHIWALTVAQPVLSVHIAIAQNTDAQAVL
                     KTASSRLQGKFHFHTVTIQIEDYSEDMKDCQACQGPSD"
     exon            273..493
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     exon            494..640
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     exon            641..794
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     exon            795..954
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1060
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1195
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..3249
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2457..2462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="hexamer: AACAAG"
     polyA_site      2479
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="major polyA site"
     polyA_site      2678
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
     polyA_site      2708
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
ORIGIN      
        1 gacccgagac acgggagcgc ttggcacgcg gagccagagc cggagctgca gccgcagcgg
       61 gagccggggg agctcagggg ccgcaggagc cgggccggag tgagcgcacc tcgcggggcc
      121 ctcggggcag gtgggtgagc gccacccgga gtcccgcgcg caactttcag ggcgcactcg
      181 gcggggcggc tgcgcggctg ccgggactcg gcgcgggact gcatggaggc caaggagaag
      241 cagcatctgt tggacgccag gccggcaatc cggtcataca cgggatctct gtggcaggaa
      301 ggggctggct ggattcctct gccccgacct ggcctggact tgcaggccat tgagctggct
      361 gcccagagca accatcactg ccatgctcag aagggtcctg acagtcactg tgaccccaag
      421 aaggggaagg cccagcgcca gctgtatgta gcctctgcca tctgcctgtt gttcatgatc
      481 ggagaagtcg ttggtgggta cctggcacac agcttggctg tcatgactga cgcagcacac
      541 ctgctcactg actttgccag catgctcatc agcctcttct ccctctggat gtcctcccgg
      601 ccagccacca agaccatgaa ctttggctgg cagagagctg agatcttggg agccctggtc
      661 tctgtactgt ccatctgggt cgtgacgggg gtactggtgt acctggctgt ggagcggctg
      721 atctctgggg actatgaaat tgacgggggg accatgctga tcacgtcggg ctgcgctgtg
      781 gctgtgaaca tcataatggg gttgaccctt caccagtctg gccatgggca cagccacggc
      841 accaccaacc agcaggagga gaaccccagc gtccgagctg ccttcatcca tgtgatcggc
      901 gactttatgc agagcatggg tgtcctagtg gcagcctata ttttatactt caagccagaa
      961 tacaagtatg tagaccccat ctgcaccttc gtcttctcca tcctggtcct ggggacaacc
     1021 ttgaccatcc tgagagatgt gatcctggtg ttgatggaag ggacccccaa gggcgttgac
     1081 ttcacagctg ttcgtgatct gctgctgtcg gtggaggggg tagaagccct gcacagcctg
     1141 catatctggg cactgacggt ggcccagcct gttctgtctg tccacatcgc cattgctcag
     1201 aatacagacg cccaggctgt gctgaagaca gccagcagcc gcctccaagg gaagttccac
     1261 ttccacaccg tgaccatcca gatcgaggac tactcggagg acatgaagga ctgtcaggca
     1321 tgccagggcc cctcagactg actgctcagc caggcaccaa ctggggcatg aacaggacct
     1381 gcaggtggct ggactgagtg tcccccaggc ccagccagga ctttgcctac cccagctgtg
     1441 ttgtaaacca ggtccccctc ctgacctctg ccccactcca ggaatggagc tcttcccagc
     1501 ctcccatctg actacagcca gggtggggac tcagcgggta taaagctagt gtgaccctgc
     1561 tcttccagct cctgggccag ctctggaagg gctgtatttg ggcctaatcc tcagcaaatg
     1621 ttctaccact cgcaggggca aaggtggtga gccacgggac gtccaagggg aggctggccc
     1681 cagcgcgccc atactgcctg cctcatgccc cattctcagc ctggctggcc tttgccttta
     1741 tgaatctgag cccctccatc tgcctatagc aataggcacg ggggtgagga ccctcacact
     1801 ctcatttgag cctccctgag gcagggagcc aggaggcacc tgaggcctat ctgtgcctta
     1861 gtcacttcag ctatgagcca aatgttccct ttcctggagg ggagaggctt cttactaggt
     1921 aagagacagg tttcctcttt ccttatttcc tcagctgtgc caacacaaaa aacaactttg
     1981 gcacaggtgg tgggcagggg gtagagagat ttcagcttgg gttctgcact aacagcctcc
     2041 aagccccctg gcacttctgt tgccctgaga gtgtcccagg ggattcagag tctccagaaa
     2101 gatatggctg ggccaactct gttgcctacc tggcctgacc cagtcggagc ctgacatggt
     2161 ggagggaaag ggagacaagt ggggctgcac tcggtccaga ggccagctag gagggaaacc
     2221 gcagcttcct ggggcttgtg tgtgaagatt cctgacttag gggtggcttt tgtttacaag
     2281 atgcaagagg ggaaacctgt ccccgactca tcgagacaac atgcccagtt atcagggagt
     2341 cctgtgtcac aaggtctgtc tctgccattg taagcaagtg ccttgggcga gctggcctct
     2401 gccccacagt ctcatctgta caccgacagg gttgatgcct ccctcacagg gttgagaaca
     2461 agagccagtt ggccaagtac ctgtggttgt tgaagattgg ttacttttac catcctgggg
     2521 acagggaact ctgtggcccg aggctgcctc actgaggagt caggtgggct tcccagcctc
     2581 cccaggggca gtgctgagtt tgtcttgact gttctggccc aaggtgggag gaggtgggtt
     2641 tggtcacttg cctcccactt taaatctctg tctttccatc tgtgaaatga cctctttgtg
     2701 ccttcccagc actgtcatcc tgatcgcctg tgttctaggt aggtgggtcc ttcagcccct
     2761 ccaggtctgt gaaaagtctg tggaaagcac tggcctggag aggggtgggg ggttgctggt
     2821 gggtgctcca ttccaccaca atctcagggg actcaacctc ccctacccaa ctccccaccc
     2881 ccacccaagc catggcaggc cccaggaact tgatcctggg ctttgccgta tgccaagtcc
     2941 ttacacccct ctcaagagac agtcattggc tgggcacggt ggctcatgcc tgcaatccca
     3001 gcaccttggg aggctgaggc aggcagatga cttgaggcca ggagttcgag accagcctgg
     3061 ccaatatggc gaaacctcat ttctactaaa aatacaaaaa ctagccaggc gtggtggctt
     3121 gtgcctgtaa tcccagctac tcgggaggct gaggcaggag aatcgcttga accggggagg
     3181 cagaggttgc agtgagctga gatcacacca ctgcactcca gcctgggtga cagagcgaga
     3241 ctccagctt
//
