LOCUS       NM_181776               3396 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 36 member 2 (SLC36A2), mRNA.
ACCESSION   NM_181776
VERSION     NM_181776.3
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 3396)
  AUTHORS   Shi,J., Lu,D., Gu,R., Xu,Y., Pan,R., Bo,F. and Zhang,Y.
  TITLE     Identification of Key Biomarkers and Immune Infiltration in
            Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling
  JOURNAL   World Neurosurg 160, e591-e600 (2022)
   PUBMED   35092815
  REMARK    GeneRIF: Identification of Key Biomarkers and Immune Infiltration
            in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide
            Profiling.
REFERENCE   2  (bases 1 to 3396)
  AUTHORS   Ussar,S., Lee,K.Y., Dankel,S.N., Boucher,J., Haering,M.F.,
            Kleinridders,A., Thomou,T., Xue,R., Macotela,Y., Cypess,A.M.,
            Tseng,Y.H., Mellgren,G. and Kahn,C.R.
  TITLE     ASC-1, PAT2, and P2RX5 are cell surface markers for white, beige,
            and brown adipocytes
  JOURNAL   Sci Transl Med 6 (247), 247ra103 (2014)
   PUBMED   25080478
  REMARK    GeneRIF: The amino acid transporter PAT2 and the purinergic
            receptor P2RX5 are cell surface markers expressed in classical
            brown and beige adipocytes.
REFERENCE   3  (bases 1 to 3396)
  AUTHORS   Schioth,H.B., Roshanbin,S., Hagglund,M.G. and Fredriksson,R.
  TITLE     Evolutionary origin of amino acid transporter families SLC32, SLC36
            and SLC38 and physiological, pathological and therapeutic aspects
  JOURNAL   Mol Aspects Med 34 (2-3), 571-585 (2013)
   PUBMED   23506890
  REMARK    Review article
REFERENCE   4  (bases 1 to 3396)
  AUTHORS   Koskinen,L.L., Einarsdottir,E., Korponay-Szabo,I.R., Kurppa,K.,
            Kaukinen,K., Sistonen,P., Pocsai,Z., Szeles,G., Adany,R., Maki,M.,
            Kere,J. and Saavalainen,P.
  TITLE     Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the
            Finnish and Hungarian populations
  JOURNAL   Tissue Antigens 74 (5), 408-416 (2009)
   PUBMED   19845895
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3396)
  AUTHORS   Broer,S., Bailey,C.G., Kowalczuk,S., Ng,C., Vanslambrouck,J.M.,
            Rodgers,H., Auray-Blais,C., Cavanaugh,J.A., Broer,A. and Rasko,J.E.
  TITLE     Iminoglycinuria and hyperglycinuria are discrete human phenotypes
            resulting from complex mutations in proline and glycine
            transporters
  JOURNAL   J Clin Invest 118 (12), 3881-3892 (2008)
   PUBMED   19033659
REFERENCE   6  (bases 1 to 3396)
  AUTHORS   Broer,S.
  TITLE     Amino acid transport across mammalian intestinal and renal
            epithelia
  JOURNAL   Physiol Rev 88 (1), 249-286 (2008)
   PUBMED   18195088
  REMARK    Review article
REFERENCE   7  (bases 1 to 3396)
  AUTHORS   Bermingham,J.R. Jr. and Pennington,J.
  TITLE     Organization and expression of the SLC36 cluster of amino acid
            transporter genes
  JOURNAL   Mamm Genome 15 (2), 114-125 (2004)
   PUBMED   15058382
REFERENCE   8  (bases 1 to 3396)
  AUTHORS   Rubio-Aliaga,I., Boll,M., Vogt Weisenhorn,D.M., Foltz,M., Kottra,G.
            and Daniel,H.
  TITLE     The proton/amino acid cotransporter PAT2 is expressed in neurons
            with a different subcellular localization than its paralog PAT1
  JOURNAL   J Biol Chem 279 (4), 2754-2760 (2004)
   PUBMED   14600155
REFERENCE   9  (bases 1 to 3396)
  AUTHORS   Boll,M., Foltz,M., Rubio-Aliaga,I. and Daniel,H.
  TITLE     A cluster of proton/amino acid transporter genes in the human and
            mouse genomes
  JOURNAL   Genomics 82 (1), 47-56 (2003)
   PUBMED   12809675
REFERENCE   10 (bases 1 to 3396)
  AUTHORS   Boll,M., Foltz,M., Rubio-Aliaga,I., Kottra,G. and Daniel,H.
  TITLE     Functional characterization of two novel mammalian electrogenic
            proton-dependent amino acid cotransporters
  JOURNAL   J Biol Chem 277 (25), 22966-22973 (2002)
   PUBMED   11959859
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC362112.1, BC101101.1,
            AC008385.7 and AY162214.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_181776.2.
            
            Summary: This gene encodes a pH-dependent proton-coupled amino acid
            transporter that belongs to the amino acid auxin permease 1 protein
            family. The encoded protein primarily transports small amino acids
            such as glycine, alanine and proline. Mutations in this gene are
            associated with iminoglycinuria and hyperglycinuria. [provided by
            RefSeq, Sep 2010].
            
            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 :: AY162214.1, BC101101.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335244.9/ ENSP00000334223.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-285               DC362112.1         32-316
            286-1625            BC101101.1         255-1594
            1626-2728           AC008385.7         42634-43736
            2729-3390           AY162214.1         2728-3389
            3391-3396           AC008385.7         44399-44404
FEATURES             Location/Qualifiers
     source          1..3396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     gene            1..3396
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /note="solute carrier family 36 member 2"
                     /db_xref="GeneID:153201"
                     /db_xref="HGNC:HGNC:18762"
                     /db_xref="MIM:608331"
     exon            1..263
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1551
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /note="tramdorin-1; solute carrier family 36 (proton/amino
                     acid symporter), member 2; transmembrane domain rich
                     protein 1"
                     /codon_start=1
                     /product="proton-coupled amino acid transporter 2"
                     /protein_id="NP_861441.2"
                     /db_xref="CCDS:CCDS4315.1"
                     /db_xref="GeneID:153201"
                     /db_xref="HGNC:HGNC:18762"
                     /db_xref="MIM:608331"
                     /translation="MSVTKSTEGPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSE
                     SAGLKKTKGITVFQALIHLVKGNMGTGILGLPLAVKNAGILMGPLSLLVMGFIACHCM
                     HILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWGRHIVSFFLIITQLG
                     FCCVYIVFLADNLKQVVEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLI
                     RNLRILTIFSMLANISMLVSLVIIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSF
                     ESIGVVLPLENKMKNARHFPAILSLGMSIVTSLYIGMAALGYLRFGDDIKASISLNLP
                     NCWLYQSVKLLYIAGILCTYALQFYVPAEIIIPFAISRVSTRWALPLDLSIRLVMVCL
                     TCLLAILIPRLDLVISLVGSVSGTALALIIPPLLEVTTFYSEGMSPLTIFKDALISIL
                     GFVGFVVGTYQALDELLKSEDSHPFSNSTTFVR"
     exon            264..354
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            355..443
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            444..539
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            540..624
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            625..843
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            844..942
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1109
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1279
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..3396
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3366..3371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /note="hexamer: AATAAA"
     polyA_site      3396
                     /gene="SLC36A2"
                     /gene_synonym="PAT2; TRAMD1"
                     /note="major polyA site"
ORIGIN      
        1 actgtgctgg ggtgtacatc tacactagac accttcctgc ttccctcctt ccagagcaga
       61 cctctttgtc accccgagct ccttgtttct taagcagtca tgtctgtgac aaaaagtact
      121 gagggtcccc agggagccgt tgccatcaaa ttggacctta tgtcgcctcc tgaaagtgcc
      181 aagaagttgg agaacaagga ctctacattc ttggatgaaa gtccttcaga gtcagcaggc
      241 ttgaagaaga ccaagggcat aacagtgttc caggccttga ttcacctggt gaaaggcaac
      301 atgggcacag ggatcctggg actacccctc gctgtgaaga acgcgggcat cctgatgggc
      361 ccactcagtc tgctggtgat gggcttcatt gcctgccact gtatgcacat cctggtcaag
      421 tgtgcccagc gcttctgtaa gaggcttaac aagcccttta tggactatgg ggacacggtg
      481 atgcatggac tagaagccaa ccccaacgcc tggctccaga atcacgctca ctggggaagg
      541 catatcgtga gcttcttcct tattatcacc caacttggct tctgctgtgt gtacattgtg
      601 tttttggctg ataatttaaa acaggtagtg gaagctgtta atagcacaac caacaactgc
      661 tattccaatg agacggtgat tctgaccccc accatggact cgcgactcta catgctctcc
      721 ttcctgccct tcctggtgct gctggtcctc atccggaacc tcaggatctt gaccatcttc
      781 tccatgctgg ccaacatcag catgctggtc agcttggtca tcatcataca gtacattacc
      841 caggaaatcc cagaccccag ccggttgcca ctggtagcaa gctggaagac ctaccctctc
      901 ttcttcggaa cagccatttt ttcttttgaa agcattggtg tggttctgcc tctggaaaac
      961 aagatgaaga atgcccgcca cttcccagcc atcctgtctt tgggaatgtc catcgtcact
     1021 tccctataca ttggcatggc ggctctgggc tacctgcggt ttggagatga catcaaggcc
     1081 agcataagcc ttaacctgcc taactgctgg ctgtaccagt ctgtcaagct tctctacatt
     1141 gccggcatcc tgtgcaccta tgccctgcag ttctacgtcc ctgcagaaat catcatcccc
     1201 tttgccatct cccgggtgtc aacacgctgg gcactgcctc tggatctgtc cattcgcctc
     1261 gtcatggtct gcctgacatg cctcctggcc atcctcatcc cccgcctgga cctggtcatc
     1321 tccctggtgg gctccgtgag tggcaccgcc ctggccctca tcatcccacc gctcctggag
     1381 gtcaccacgt tctactcaga gggcatgagc cccctcacca tcttcaagga cgccctgatc
     1441 agcatcctgg gcttcgtggg ctttgtggtg gggacctacc aggccctgga cgagctgctc
     1501 aagtcagaag actctcaccc cttttccaac tccaccactt ttgttcggtg agcctggcac
     1561 tgctccttgc ctaccagcac ccgactttta attatatgga tctctttttt tttttttttt
     1621 tttttttgag acggagtttc tgtcttgttg cccagactgg agtacaatga tgcgatctca
     1681 gctcaccaca acttcggcct cctgggttca agcgattctc ctgcctcagc ctcccgagta
     1741 gttgggatta gaggcatagt ccagcacgcc tggctaattt tgtattttta gtagagacgg
     1801 ggtttctcca tgttggtcag gctggtcttg aactcccgac ctcaggtgat ccacccaccc
     1861 cggcctccca aaatgctggg atcacaggcg tgagccacct cgcctggcca gatctctttt
     1921 atatgcatta tctttatgtc actgctttgc cttttctctg ggccaagtca tggtgaaaca
     1981 agaaagctac aagctctaaa tggtaatttt ttacattttt gttttgttta ttacttcttc
     2041 ttttcatacc tctggcattc cactacattg tgagctttcc cttggaaggc tctggactct
     2101 atccaagctt atgataattc acacaatgaa tttcatacct agcgtggagc tatgcaagaa
     2161 gcagccacca gagggcccca agtggcagca actggccaaa ggagatgcag ccagctaaga
     2221 ctgtccacac tttggcagac aaccggtttt cccttttctg ggtctgttca aaaagcaaac
     2281 attaagggtg ggcacataat ccacaagcca gaaagttgtg cacggctcca gtgttgagat
     2341 gggtagggcc aagatgacca gtgtgaaaac tctcagatag aaaggagcca tgcatattaa
     2401 atgaggggca acaaacattt caaacgatta gataacattt tctcccaact caaagatccc
     2461 aacaatgaat aggaggcatg gaagtagatg tgccaatggg gagggatgag gagtgaacat
     2521 gaatattatt tgaatagact ttacctctta attcttgcaa catgcattct tgattaccta
     2581 ctgtgtgcca aacaagattt tgtagaatat tgcaaaaatg accataaatt cctcgtgata
     2641 atgtgacttt gcacctgctc ctatgaaaag atgaagtctg tatctgtatc ccttaaattt
     2701 ttttgcttgt ttgtcggttt tgttttgtgt tttgtttttt tgagatgaag tctcgctctg
     2761 ttgcccaggc tggagtgcaa tggcacaatc tcggctcact gcaacctcca cctcctgggt
     2821 tcaagcgatt cttctgcctc agcctcccaa gtagctagga ttacaagtgc ctgccactat
     2881 gcctggctaa tttttgtttt tcgtagagat ggggttttac catgttggcc aggctggtct
     2941 caaactcctg acctcaggtg atccacttgc ctcggcctcc caaagtgctg agattacaag
     3001 tgtgagccac cacgcccagc ctctcccctt taaatttgat cttggccttg taacttgctt
     3061 tggccaatgg gacattagta aatgtgatgc agtcagaggt ttggtaataa cctatgcatc
     3121 aggacttaca tcacttgctg ctctatggag ttgagaccac caagtaaagc atcctgggct
     3181 agcctaccgg aggatcagag accatgtgga acataaatga atcatcccag ttgagccctg
     3241 tccgcagatc aaccagccta ccaacttcca gacacgagta aagccatcct agactatatc
     3301 caaccccagt caggctgaca cagaccataa gaattgtaca gataatccac agaactgtga
     3361 taaataataa agatgtttgt aattttaata cataaa
//
