LOCUS       NM_001257180            3752 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens solute carrier family 20 member 2 (SLC20A2),
            transcript variant 1, mRNA.
ACCESSION   NM_001257180 XR_110882 XR_133484
VERSION     NM_001257180.2
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 3752)
  AUTHORS   Ceylan,A.C., Kireker Koylu,O., Ozyurek,H., Ozaydin,E., Yon,M.I. and
            Kasapkara,C.S.
  TITLE     Homozygous SLC20A2 mutations cause congenital CMV infection-like
            phenotype
  JOURNAL   Acta Neurol Belg 123 (5), 1757-1761 (2023)
   PUBMED   35881308
  REMARK    GeneRIF: Homozygous SLC20A2 mutations cause congenital CMV
            infection-like phenotype.
REFERENCE   2  (bases 1 to 3752)
  AUTHORS   Hebestreit,S., Schwahn,J., Sandikci,V., Maros,M.E., Valkadinov,I.,
            Yilmaz,R., Eckrich,L., Loghmani,S.B., Lesch,H., Conrad,J., Wenz,H.,
            Ebert,A., Brenner,D. and Weishaupt,J.H.
  TITLE     PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's
            disease and primary familial brain calcification co-morbidity
  JOURNAL   Neurogenetics 24 (3), 209-213 (2023)
   PUBMED   37341843
  REMARK    GeneRIF: PSEN1/SLC20A2 double mutation causes early-onset
            Alzheimer's disease and primary familial brain calcification
            co-morbidity.
REFERENCE   3  (bases 1 to 3752)
  AUTHORS   Frangi,G., Guicheteau,M., Jacquot,F., Pyka,G., Kerckhofs,G.,
            Feyeux,M., Veziers,J., Guihard,P., Halgand,B., Sourice,S.,
            Guicheux,J., Prieur,X., Beck,L. and Beck-Cormier,S.
  TITLE     PiT2 deficiency prevents increase of bone marrow adipose tissue
            during skeletal maturation but not in OVX-induced osteoporosis
  JOURNAL   Front Endocrinol (Lausanne) 13, 921073 (2022)
   PUBMED   36465661
  REMARK    GeneRIF: PiT2 deficiency prevents increase of bone marrow adipose
            tissue during skeletal maturation but not in OVX-induced
            osteoporosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3752)
  AUTHORS   Wang,C., Li,Y., Shi,L., Ren,J., Patti,M., Wang,T., de
            Oliveira,J.R., Sobrido,M.J., Quintans,B., Baquero,M., Cui,X.,
            Zhang,X.Y., Wang,L., Xu,H., Wang,J., Yao,J., Dai,X., Liu,J.,
            Zhang,L., Ma,H., Gao,Y., Ma,X., Feng,S., Liu,M., Wang,Q.K.,
            Forster,I.C., Zhang,X. and Liu,J.Y.
  TITLE     Mutations in SLC20A2 link familial idiopathic basal ganglia
            calcification with phosphate homeostasis
  JOURNAL   Nat Genet 44 (3), 254-256 (2012)
   PUBMED   22327515
  REMARK    GeneRIF: Mutations in SLC20A2 link familial idiopathic basal
            ganglia calcification with phosphate homeostasis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3752)
  AUTHORS   Kozak,S.L., Siess,D.C., Kavanaugh,M.P., Miller,A.D. and Kabat,D.
  TITLE     The envelope glycoprotein of an amphotropic murine retrovirus binds
            specifically to the cellular receptor/phosphate transporter of
            susceptible species
  JOURNAL   J Virol 69 (6), 3433-3440 (1995)
   PUBMED   7745689
REFERENCE   6  (bases 1 to 3752)
  AUTHORS   Miller,D.G. and Miller,A.D.
  TITLE     A family of retroviruses that utilize related phosphate
            transporters for cell entry
  JOURNAL   J Virol 68 (12), 8270-8276 (1994)
   PUBMED   7966619
REFERENCE   7  (bases 1 to 3752)
  AUTHORS   Kavanaugh,M.P., Miller,D.G., Zhang,W., Law,W., Kozak,S.L., Kabat,D.
            and Miller,A.D.
  TITLE     Cell-surface receptors for gibbon ape leukemia virus and
            amphotropic murine retrovirus are inducible sodium-dependent
            phosphate symporters
  JOURNAL   Proc Natl Acad Sci U S A 91 (15), 7071-7075 (1994)
   PUBMED   8041748
REFERENCE   8  (bases 1 to 3752)
  AUTHORS   Ramos,E.M., Oliveira,J., Sobrido,M.J. and Coppola,G.
  TITLE     Primary Familial Brain Calcification
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301594
REFERENCE   9  (bases 1 to 3752)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   10 (bases 1 to 3752)
  AUTHORS   Garcia,J.V., Jones,C. and Miller,A.D.
  TITLE     Localization of the amphotropic murine leukemia virus receptor gene
            to the pericentromeric region of human chromosome 8
  JOURNAL   J Virol 65 (11), 6316-6319 (1991)
   PUBMED   1656098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291202.1, BC028600.2 and
            H10927.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001257180.1.
            
            Summary: This gene encodes a member of the inorganic phosphate
            transporter family. The encoded protein is a type 3
            sodium-dependent phosphate symporter that plays an important role
            in phosphate homeostasis by mediating cellular phosphate uptake.
            The encoded protein also confers susceptibility to viral infection
            as a gamma-retroviral receptor. Mutations in this gene may play a
            role in familial idiopathic basal ganglia calcification.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Mar
            2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: SRR14038196.695357.1, AK291202.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000520262.6/ ENSP00000429754.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2763              AK291202.1         230-2992
            2764-3554           BC028600.2         2668-3458
            3555-3752           H10927.1           28-225              c
FEATURES             Location/Qualifiers
     source          1..3752
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..3752
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /note="solute carrier family 20 member 2"
                     /db_xref="GeneID:6575"
                     /db_xref="HGNC:HGNC:10947"
                     /db_xref="MIM:158378"
     exon            1..201
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            202..754
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             466..2424
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /note="murine leukemia virus, amphotropic, receptor for;
                     gibbon ape leukemia virus receptor 2; solute carrier
                     family 20 (phosphate transporter), member 2; murine
                     leukemia virus, amphotropic; receptor; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="sodium-dependent phosphate transporter 2"
                     /protein_id="NP_001244109.1"
                     /db_xref="CCDS:CCDS6132.1"
                     /db_xref="GeneID:6575"
                     /db_xref="HGNC:HGNC:10947"
                     /db_xref="MIM:158378"
                     /translation="MAMDEYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTL
                     RQACILASIFETTGSVLLGAKVGETIRKGIIDVNLYNETVETLMAGEVSAMVGSAVWQ
                     LIASFLRLPISGTHCIVGSTIGFSLVAIGTKGVQWMELVKIVASWFISPLLSGFMSGL
                     LFVLIRIFILKKEDPVPNGLRALPVFYAATIAINVFSIMYTGAPVLGLVLPMWAIALI
                     SFGVALLFAFFVWLFVCPWMRRKITGKLQKEGALSRVSDESLSKVQEAESPVFKELPG
                     AKANDDSTIPLTGAAGETLGTSEGTSAGSHPRAAYGRALSMTHGSVKSPISNGTFGFD
                     GHTRSDGHVYHTVHKDSGLYKDLLHKIHIDRGPEEKPAQESNYRLLRRNNSYTCYTAA
                     ICGLPVHATFRAADSSAPEDSEKLVGDTVSYSKKRLRYDSYSSYCNAVAEAEIEAEEG
                     GVEMKLASELADPDQPREDPAEEEKEEKDAPEVHLLFHFLQVLTACFGSFAHGGNDVS
                     NAIGPLVALWLIYKQGGVTQEAATPVWLLFYGGVGICTGLWVWGRRVIQTMGKDLTPI
                     TPSSGFTIELASAFTVVIASNIGLPVSTTHCKVGSVVAVGWIRSRKAVDWRLFRNIFV
                     AWFVTVPVAGLFSAAVMALLMYGILPYV"
     exon            755..895
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            896..981
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1078
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1195
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1399
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1988
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1989..2174
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2175..2259
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2260..3752
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3732..3737
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /note="hexamer: AATAAA"
     polyA_site      3752
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /note="major polyA site"
ORIGIN      
        1 agcgtgttcc tgcctgctgc ttggctgcag ttaattttag ccggggttag ttctatgagt
       61 tgtaaaagta gaagttagca agctgaaatg tgacttctcg gcctaatgtg gtaggatatc
      121 tattttagac ttcagattgt gtttgtgatc aggagagcag tcttctgaag aattgtggct
      181 cagttttctt ggaaactact tgaggagaca tcacagcttt cccagatcgg gaggaaaaat
      241 atggaatgtg ttttaccgct gactgaacac aaccaaatga actgtcctga cagtagtttg
      301 caaaccagca gctagcagtt tgtccagcct ctaacattgt ccagcacttt ccagagcaaa
      361 ctcactgttt acaagaactc ttggccttac gaagtttata acctcaagct ttgtttattt
      421 aaaatattcc tgcaaaagaa aagtacccgg cacccacttt ccaaaatggc catggatgag
      481 tatttgtgga tggtcatttt gggtttcatc atagctttca tcttggcctt ttctgttggt
      541 gcaaacgatg ttgccaactc ctttggtaca gccgtgggct ctggtgtggt gaccttgagg
      601 caggcatgca ttttagcttc aatatttgaa accaccggct ccgtgttact aggcgccaaa
      661 gtaggagaaa ccattcgcaa aggtatcatt gacgtgaacc tgtacaacga gacggtggag
      721 actctcatgg ctggggaagt tagtgccatg gttggttccg ctgtgtggca gctgattgct
      781 tccttcctga ggcttccaat ctcaggaacg cactgcattg tgggttctac tataggattc
      841 tcactggtcg caatcggtac caaaggtgtg cagtggatgg agcttgtcaa gattgttgct
      901 tcttggttta tatctccact gttgtctggt ttcatgtctg gcctgctgtt tgtactcatc
      961 agaattttca tcttaaaaaa ggaagaccct gttcccaatg gcctccgggc actcccagta
     1021 ttctatgctg ctaccatagc aatcaatgtc ttttccatca tgtacacagg agcaccagtg
     1081 ctcggccttg ttctccccat gtgggccata gccctcattt cctttggtgt cgccctcctg
     1141 ttcgcttttt ttgtgtggct cttcgtgtgt ccgtggatgc ggaggaaaat aacaggcaaa
     1201 ttacaaaaag aaggtgcttt atcacgagta tctgacgaaa gcctcagtaa ggttcaggaa
     1261 gcagagtccc cagtatttaa agagctacca ggtgccaagg ctaatgatga cagcaccatc
     1321 ccgctcacgg gagcagcagg ggagacactg gggacctcgg aaggcacttc tgcgggcagc
     1381 caccctcggg ctgcatacgg aagagcactg tccatgaccc atggctctgt gaaatcgccc
     1441 atctccaacg gcaccttcgg cttcgacggc cacaccagga gcgacggtca tgtgtaccac
     1501 accgtgcaca aagactcggg gctctacaaa gatctgctgc acaaaatcca catcgacagg
     1561 ggccccgagg agaagccagc ccaggaaagc aactaccggc tgctgcgccg aaacaacagt
     1621 tacacctgct acaccgcagc catttgtggg ctgccagtgc acgccacctt tcgagctgcg
     1681 gactcatcgg ccccagagga cagtgagaag ctggtgggcg acaccgtgtc ctactccaag
     1741 aagaggctgc gctacgacag ctactcgagc tactgtaacg cggtggcaga ggcggagatc
     1801 gaggcggagg agggcggcgt ggagatgaag ctggcgtcgg agctggccga ccctgaccag
     1861 ccgcgagagg accctgcaga ggaggagaag gaggagaagg acgcacccga ggttcacctc
     1921 ctgttccatt tcctgcaggt cctcaccgcc tgtttcgggt cctttgctca cggcggcaat
     1981 gacgtgagta atgccatcgg tcccctggta gccttgtggc tgatttacaa acaaggcggg
     2041 gtaacgcaag aagcagctac acccgtctgg ctgctgtttt atggaggagt tggaatctgc
     2101 acaggcctct gggtctgggg gagaagagtg atccagacca tggggaagga cctcactccc
     2161 atcacgccgt ccagcggctt cacgatcgag ctggcctcag ccttcacagt ggtgatcgcc
     2221 tccaacatcg ggcttccagt cagcaccacg cactgtaagg tgggctcggt ggtggccgtg
     2281 ggctggatcc gctcccgcaa ggctgtggac tggcgcctct ttcggaacat cttcgtggcc
     2341 tggttcgtga ccgtccctgt ggctgggctg ttcagcgctg ctgtcatggc tcttctcatg
     2401 tatgggatcc ttccatatgt gtgatttgtc ttcttccagc tgcaaacagc taaagggatg
     2461 gtctggtgtt ggcgtgtggg agacatgtgt gctcgtgccg cacatacaca tcctggccgt
     2521 gcacggctct ctcatgacca gctctctgcc tcccttccag gaggctccat cccacactgt
     2581 tcacccaggc tgcggagact caccttcccg agctaactta actactgtac ataataatat
     2641 gtattaaact ggtatcgtgg tgatataatg tggtgcagtt acttatatat taaatatcta
     2701 ttgtatccat agaataggca gcattatttc aaacatattc aagttgggag tggagatcat
     2761 tgcctagaag tcaatattca ataaatcttg tacataacta tttcgatggc aaatgttaag
     2821 ccttctaaaa ggaaagtgta gattggaaaa tgattttttt tccaaatgat gtttttgcct
     2881 tctaatatac tgtaaggtaa tgagcttcag aacaggcaac ctgaccctgc agaggtcgcg
     2941 tgctgtggga tgacagcggg acgggagctc acaagtgctt tcactgaaga tttgttcata
     3001 tactgtgtat tgattgttgt gtaatatatc atcattgctt ttgtaaatac gtaaaactgt
     3061 aattttttaa tggtgtgctt cccttatact tttttgatca gagaattttg gaaagtacca
     3121 aagaagcagg ggaatcattg gccagtgtta cgttttcaca ttgtctgtct cccaccctca
     3181 ctgatcacgc ctgccccaga gcagtgtgtg gcggtgacac cgtcacccag catgcgccac
     3241 gccgtggctc ccaccagcag tgccaccgcc accacacccc agatcccacc caccttgcag
     3301 tggcctttcc ttgtcatcag agtagagaat gcacaggtgt tggtgagggc gtgtggctga
     3361 gcactacatg tcaagtccag agtcagtttc tatcccaatt ctccctgcag cctgaagaac
     3421 ggatccttgt ctccaatgtc agcacaaagg aggctttttc tgtgctttga cattctagca
     3481 cttcagggat gagagggagg gagaatcctg gatgctggat ggagtatttc tctgaggccc
     3541 acacaaagct ggacaccccc aggctctact ccatcccatt ggagtctctt ctttttttga
     3601 tagcgggagg gaggaagtac gactaatgtt ggagcctgaa actatggaaa tgctgctaaa
     3661 atttttatat tgacaaacat tttcttggta cttcattgtc atttttcatt aatcaaccat
     3721 attaaattta taataaaaaa tgcccctcag aa
//
