LOCUS       NM_006517               4128 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 16 member 2 (SLC16A2), mRNA.
ACCESSION   NM_006517
VERSION     NM_006517.5
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 4128)
  AUTHORS   Anthofer,L., Gmach,P., Uretmen Kagiali,Z.C., Kleinau,G., Rotter,J.,
            Opitz,R., Scheerer,P., Beck-Sickinger,A.G., Wolf,P., Biebermann,H.,
            Bechmann,I., Kuhnen,P., Krude,H. and Paisdzior,S.
  TITLE     Melanocortin-4 Receptor PLC Activation Is Modulated by an
            Interaction with the Monocarboxylate Transporter 8
  JOURNAL   Int J Mol Sci 25 (14), 7565 (2024)
   PUBMED   39062808
  REMARK    GeneRIF: Melanocortin-4 Receptor PLC Activation Is Modulated by an
            Interaction with the Monocarboxylate Transporter 8.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4128)
  AUTHORS   Groeneweg,S., Zevenbergen,C., Lima de Souza,E.C., van Geest,F.S.,
            Kloeckener-Gruissem,B., Laczko,E., Camargo,S.M.R., Meima,M.E.,
            Peeters,R.P. and Visser,W.E.
  TITLE     Identification of Iodotyrosines as Novel Substrates for the Thyroid
            Hormone Transporter MCT8
  JOURNAL   Thyroid 34 (7), 931-941 (2024)
   PUBMED   38661522
  REMARK    GeneRIF: Identification of Iodotyrosines as Novel Substrates for
            the Thyroid Hormone Transporter MCT8.
REFERENCE   3  (bases 1 to 4128)
  AUTHORS   Graffunder,A.S., Bresser,A.A.J., Fernandez Vallone,V., Megges,M.,
            Stachelscheid,H., Kuhnen,P. and Opitz,R.
  TITLE     Spatiotemporal expression of thyroid hormone transporter MCT8 and
            THRA mRNA in human cerebral organoids recapitulating first
            trimester cortex development
  JOURNAL   Sci Rep 14 (1), 9355 (2024)
   PUBMED   38654093
  REMARK    GeneRIF: Spatiotemporal expression of thyroid hormone transporter
            MCT8 and THRA mRNA in human cerebral organoids recapitulating first
            trimester cortex development.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4128)
  AUTHORS   Salas-Lucia,F., Escamilla,S., Bianco,A.C., Dumitrescu,A. and
            Refetoff,S.
  TITLE     Impaired T3 uptake and action in MCT8-deficient cerebral organoids
            underlie Allan-Herndon-Dudley syndrome
  JOURNAL   JCI Insight 9 (7), e174645 (2024)
   PUBMED   38376950
  REMARK    GeneRIF: Impaired T3 uptake and action in MCT8-deficient cerebral
            organoids underlie Allan-Herndon-Dudley syndrome.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4128)
  AUTHORS   Debrand,E., Heard,E. and Avner,P.
  TITLE     Cloning and localization of the murine Xpct gene: evidence for
            complex rearrangements during the evolution of the region around
            the Xist gene
  JOURNAL   Genomics 48 (3), 296-303 (1998)
   PUBMED   9545634
REFERENCE   6  (bases 1 to 4128)
  AUTHORS   Price,N.T., Jackson,V.N. and Halestrap,A.P.
  TITLE     Cloning and sequencing of four new mammalian monocarboxylate
            transporter (MCT) homologues confirms the existence of a
            transporter family with an ancient past
  JOURNAL   Biochem J 329 (Pt 2) (Pt 2), 321-328 (1998)
   PUBMED   9425115
REFERENCE   7  (bases 1 to 4128)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   8  (bases 1 to 4128)
  AUTHORS   Lafreniere,R.G., Carrel,L. and Willard,H.F.
  TITLE     A novel transmembrane transporter encoded by the XPCT gene in
            Xq13.2
  JOURNAL   Hum Mol Genet 3 (7), 1133-1139 (1994)
   PUBMED   7981683
REFERENCE   9  (bases 1 to 4128)
  AUTHORS   Sarret,C., Oliver Petit,I. and Tonduti,D.
  TITLE     Allan-Herndon-Dudley Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301789
REFERENCE   10 (bases 1 to 4128)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN342861.1, AB085789.1 and
            AL157934.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006517.4.
            
            Summary: This gene encodes an integral membrane protein that
            functions as a transporter of thyroid hormone. The encoded protein
            facilitates the cellular importation of thyroxine (T4),
            triiodothyronine (T3), reverse triiodothyronine (rT3) and
            diidothyronine (T2). This gene is expressed in many tissues and
            likely plays an important role in the development of the central
            nervous system. Loss of function mutations in this gene are
            associated with psychomotor retardation in males while females
            exhibit no neurological defects and more moderate thyroid-deficient
            phenotypes. This gene is subject to X-chromosome inactivation.
            Mutations in this gene are the cause of Allan-Herndon-Dudley
            syndrome. [provided by RefSeq, Mar 2012].
            
            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 :: U05315.1, SRR1660809.143454.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000587091.6/ ENSP00000465734.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                CN342861.1         2-60
            60-1386             AB085789.1         2-1328
            1387-1387           AL157934.17        54438-54438
            1388-2886           AB085789.1         1330-2828
            2887-2887           AL157934.17        57829-57829
            2888-4128           AB085789.1         2829-4069
FEATURES             Location/Qualifiers
     source          1..4128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.2"
     gene            1..4128
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /note="solute carrier family 16 member 2"
                     /db_xref="GeneID:6567"
                     /db_xref="HGNC:HGNC:10923"
                     /db_xref="MIM:300095"
     exon            1..575
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..1765
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /note="X-linked PEST-containing transporter;
                     monocarboxylate transporter 7; solute carrier family 16,
                     member 2 (thyroid hormone transporter)"
                     /codon_start=1
                     /product="monocarboxylate transporter 8"
                     /protein_id="NP_006508.2"
                     /db_xref="CCDS:CCDS14426.2"
                     /db_xref="GeneID:6567"
                     /db_xref="HGNC:HGNC:10923"
                     /db_xref="MIM:300095"
                     /translation="MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPV
                     PVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWV
                     VVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPI
                     VSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLV
                     ILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLL
                     SLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALG
                     YFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVL
                     SFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGY
                     LLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKE
                     QRDSSKDKMLAPDPDPNGELLPGSPNPEEPI"
     exon            576..720
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /inference="alignment:Splign:2.1.0"
     exon            721..1171
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1315
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1544
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..4128
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4108..4113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /note="hexamer: AATAAA"
     polyA_site      4128
                     /gene="SLC16A2"
                     /gene_synonym="AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7;
                     MCT8; MRX22; XPCT"
                     /note="major polyA site"
ORIGIN      
        1 ggccagctgg ggcgcggagc ctggaggagg aggcagcggc agcggcagca gcagccctcc
       61 gagcagcagc agctgcagca gcagaaacaa gtaccagcca caaagcggct cctctggccc
      121 aagcagccac agtccccccg ccgcgatggc gctgcaaagc caggcgagcg aggaagcaaa
      181 ggggccctgg caggaggcag accaggaaca gcaggagccg gtgggtagcc cagagccgga
      241 gtctgagccg gagcctgagc ccgagcccga gcccgtgcca gtgcccccgc ccgagcccca
      301 gccggagccc cagcccctac cggaccccgc acccctgccg gagctggagt tcgagtccga
      361 gcgggtgcac gaacccgagc ccacgcctac ggtagagacc cgcggcaccg cgcgcggctt
      421 ccagcctccc gaaggtggct tcggctgggt ggtggtgttc gctgccacct ggtgcaacgg
      481 ctccatcttc ggcatccata actctgtcgg gatcctctac tccatgctgc tagaggagga
      541 aaaggaaaaa aatcgccaag tggagttcca agcagcatgg gtcggagccc tcgcgatggg
      601 tatgatcttc ttctgttctc ccattgtgag tatattcact gaccgtttgg gctgccgaat
      661 cacagcaacc gcgggggctg ccgttgcttt cattggcctc cataccagct ccttcaccag
      721 ctccctaagc ctgcgctact tcacctacgg gattctcttt ggttgtggct gttccttcgc
      781 ctttcagcca tccctcgtca tcctgggcca ctactttcaa cgccgcctgg gtctggccaa
      841 tggtgtggtg tctgctggga gtagcatttt ctccatgtcc ttccccttcc tcatcagaat
      901 gctgggggat aagatcaagc tggcccaaac cttccaggtg ctgagtacct tcatgtttgt
      961 tcttatgctg ctttcactca cctaccggcc cctcctgccc agctcccagg acaccccaag
     1021 caagagaggt gtccgcaccc tgcaccagcg ctttctggct cagctcagga agtacttcaa
     1081 catgcgagtg ttccgccaac gcacttaccg catctgggcc ttcggaattg ctgctgctgc
     1141 ccttggctac tttgttccct atgtacacct gatgaagtat gtggaggagg agttctcaga
     1201 aatcaaggag acctgggtgc tcttggtgtg tattggggct acctcaggcc ttgggcgtct
     1261 tgtgtcaggc cacatcagtg actccatccc tggacttaag aagatctact tgcaggtcct
     1321 ttccttcctg ctcctgggcc tgatgtccat gatgattccc ctgtgccggg acttcggggg
     1381 ccttatcgtc gtctgtcttt tcctgggcct ttgcgatggc ttcttcatca ccatcatggc
     1441 ccccattgca tttgagctgg tgggcccaat gcaggcctca caggccattg gctacctcct
     1501 gggcatgatg gccctgccaa tgattgctgg gccccccatt gcaggcctac tccgcaactg
     1561 ttttggggac taccatgtgg ccttctactt tgccggtgtg ccccccatca tcggggctgt
     1621 aatcctcttc ttcgtccctc tgatgcatca aaggatgttc aagaaagagc agagagattc
     1681 cagcaaggat aagatgttgg cccctgaccc agaccccaat ggggagctac tgccgggctc
     1741 ccccaaccct gaggaaccaa tctaatgcct ttcttgccat tgtgtgccct ttcccagctc
     1801 ttccccttca tcccaccctg ctcagcattt acatttttgc caccagcaca cttgttccca
     1861 gacctgcgca cacagcattt cagccacctg acaatctcct tggagtcaaa gctccaggtg
     1921 ttccaaactc attaactaaa ttctccccag aatgctttta aattttccag ggcctttctc
     1981 ctcccaggat ctgggaaagc ttgggaacca cccctggcct ttggaacctc tccatatact
     2041 ttctaagctc tgggggagga ggaggatggg acctcctgga cccagcttgt tagtcaccca
     2101 ctataatcaa ctgccaaagg tgctactgtg tccccaggag cctaataggg taggcccaaa
     2161 tctctgtttg ctgaggaggt cattgccatc catatttggg agccactggg tggaggggca
     2221 gggaggcaaa atgagacaag tagccttggt tagtcttaga gttgctgatg actgtggctt
     2281 cccaagaact gggtacaagc agtgccctta ttgtatggtt ggttaacagt ctgctcccct
     2341 cttcccttcc ttcttttttt cctctactga cttctctcca tactctttcc cctctatttc
     2401 tttgtatgac tgtcatagac acatgggtgc ttgaagaaag gagggacccg gaacttgggc
     2461 caatcagcct caccttgtcc cagtccactc ctaacactag catcagtccc actcatctca
     2521 ggctgagcca catctcactt tttcgctcaa gctatataat cctagactgg aagagtagaa
     2581 tatcatatag ggaagaaacc ttaaacacca cagtgttcca tgttccagtc actgattttt
     2641 acaaatctta cagtccaagg cattaacctc aaggccctcc cagcacccca ttcttgtata
     2701 cacatggcaa aatgtgaaga aactcctttc atctcagcag gtagaggagg actgatgaca
     2761 cgagctgcca tggcgggagg aggggcagta gttattgata tggtgagccc catctctcag
     2821 ttttcatgac aggtctatat ttctacctgg gccaggccag gaaagagact atttaagaaa
     2881 aaaaaaatca attcctagcc tggatcccaa aaaggtacag gcagcagttg cacatagggt
     2941 tggaaaattt cttttgggaa ggggaagcca tcccagcctt taccacccaa tgtgtctccc
     3001 atgctgggca tcctaggcca ctttgcttag agggcattaa aggtgccatg aaaggtagac
     3061 tctgaaccac tttgatccct ctgaagtagg tgactgatgc ctccttatgc ccaggctctg
     3121 gcaacagtct tactgaagaa cattcccagt gcccctggct aggggcagag ggcactgcca
     3181 ggctgtgttc agttagcaca gctcacctca ttaggagctc agcctctctc ctcactctgc
     3241 ctctttgtgt ctctttttct cctctctgag cctttgtcta ttgtgttcct gtcacccacc
     3301 ctttcatcat ctttttgcca ggcattcctg gctgtcactt ggagccaaca gtaacttgcc
     3361 accttaaggc agggtcatcc ccgggccagg aggatgaggt tgtcctgagg ggctccaaag
     3421 aagacaatag ttcccactca tgattttccg ttacaaacag gcagctgggg catggttggc
     3481 ctccaatgat ttcattcaag gccaaagtcc tgagccccct ccgctggtcc cagtccagct
     3541 cttatcaact ccccaaagga aaacccactg gttcttagct ctgtgggtag gaaggggccc
     3601 tagaaagggc ctagttacta tcctgtcagt tctaacagta gtggaacagg agaatctggg
     3661 ccctaggagc cctgtaactc ccaggagaga ccactgaaaa tactggagca acaatgcccc
     3721 tgcttccatt tctccccacc tcactctcac caagtcacca gagggtggtt ctgtaggacc
     3781 tcttttgttg cttaagatgc agatggctct taagaatcag gcagtcgccc acttctctcc
     3841 agatgaaggg aagacattca taggtcccaa atctgcccat tcagatgtca cataatatgg
     3901 tgggatatca atttacttct tccacacatg tggttgtgca catgtgagct tgtgtgcttt
     3961 tggagagaat gttgattggc aaaagcagca cagtattaat atttagagta ggatgcagcc
     4021 tcttatgcac cacagttaaa tctagaacga acaaaatttc agagctcaag acatgggaca
     4081 tttaaatcct caaggagttt ggaacaaaat aaacagatct aaaaattt
//
