LOCUS       NM_015959               1645 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens thioredoxin related transmembrane protein 2 (TMX2),
            transcript variant 1, mRNA.
ACCESSION   NM_015959
VERSION     NM_015959.4
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 1645)
  AUTHORS   Luo,N., Mei,Z., Zhang,Q., Tang,H., Wan,R., Deng,A., Zou,X. and
            Lv,C.
  TITLE     TMX family genes and their association with prognosis, immune
            infiltration, and chemotherapy in human pan-cancer
  JOURNAL   Aging (Albany NY) 15 (24), 15064-15083 (2023)
   PUBMED   38147024
  REMARK    GeneRIF: TMX family genes and their association with prognosis,
            immune infiltration, and chemotherapy in human pan-cancer.
            Erratum:[Aging (Albany NY). 2024 Jun 30;16(12):10666-10667. doi:
            10.18632/aging.205990.. PMID: 38967984]
REFERENCE   2  (bases 1 to 1645)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1645)
  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   4  (bases 1 to 1645)
  AUTHORS   Ghosh,S.G., Wang,L., Breuss,M.W., Green,J.D., Stanley,V., Yang,X.,
            Ross,D., Traynor,B.J., Alhashem,A.M., Azam,M., Selim,L.,
            Bastaki,L., Elbastawisy,H.I., Temtamy,S., Zaki,M. and Gleeson,J.G.
  TITLE     Recurrent homozygous damaging mutation in TMX2, encoding a protein
            disulfide isomerase, in four families with microlissencephaly
  JOURNAL   J Med Genet 57 (4), 274-282 (2020)
   PUBMED   31586943
  REMARK    GeneRIF: Recurrent homozygous damaging mutation in TMX2, encoding a
            protein disulfide isomerase, in four families with
            microlissencephaly.
REFERENCE   5  (bases 1 to 1645)
  AUTHORS   Vandervore,L.V., Schot,R., Milanese,C., Smits,D.J., Kasteleijn,E.,
            Fry,A.E., Pilz,D.T., Brock,S., Borklu-Yucel,E., Post,M.,
            Bahi-Buisson,N., Sanchez-Soler,M.J., van Slegtenhorst,M., Keren,B.,
            Afenjar,A., Coury,S.A., Tan,W.H., Oegema,R., de Vries,L.S.,
            Fawcett,K.A., Nikkels,P.G.J., Bertoli-Avella,A., Al Hashem,A.,
            Alwabel,A.A., Tlili-Graiess,K., Efthymiou,S., Zafar,F., Rana,N.,
            Bibi,F., Houlden,H., Maroofian,R., Person,R.E., Crunk,A.,
            Savatt,J.M., Turner,L., Doosti,M., Karimiani,E.G., Saadi,N.W.,
            Akhondian,J., Lequin,M.H., Kayserili,H., van der Spek,P.J.,
            Jansen,A.C., Kros,J.M., Verdijk,R.M., Milosevic,N.J., Fornerod,M.,
            Mastroberardino,P.G. and Mancini,G.M.S.
  TITLE     TMX2 Is a Crucial Regulator of Cellular Redox State, and Its
            Dysfunction Causes Severe Brain Developmental Abnormalities
  JOURNAL   Am J Hum Genet 105 (6), 1126-1147 (2019)
   PUBMED   31735293
  REMARK    GeneRIF: TMX2 Dysfunction Causes Severe Brain Developmental
            Abnormalities.
REFERENCE   6  (bases 1 to 1645)
  AUTHORS   Oguro,A. and Imaoka,S.
  TITLE     Thioredoxin-related transmembrane protein 2 (TMX2) regulates the
            Ran protein gradient and importin-beta-dependent nuclear cargo
            transport
  JOURNAL   Sci Rep 9 (1), 15296 (2019)
   PUBMED   31653923
  REMARK    GeneRIF: Thioredoxin-related transmembrane protein 2 (TMX2)
            regulates the Ran protein gradient and importin-beta-dependent
            nuclear cargo transport.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1645)
  AUTHORS   Galligan,J.J. and Petersen,D.R.
  TITLE     The human protein disulfide isomerase gene family
  JOURNAL   Hum Genomics 6 (1), 6 (2012)
   PUBMED   23245351
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1645)
  AUTHORS   Lynes,E.M., Bui,M., Yap,M.C., Benson,M.D., Schneider,B.,
            Ellgaard,L., Berthiaume,L.G. and Simmen,T.
  TITLE     Palmitoylated TMX and calnexin target to the
            mitochondria-associated membrane
  JOURNAL   EMBO J 31 (2), 457-470 (2012)
   PUBMED   22045338
  REMARK    GeneRIF: TMX2 is enriched on the mitochondria-associated membrane.
            Targeting TMX to the MAM requires palmitoylation of two
            membrane-proximal cytosolic cysteines.
REFERENCE   9  (bases 1 to 1645)
  AUTHORS   Meng,X., Zhang,C., Chen,J., Peng,S., Cao,Y., Ying,K., Xie,Y. and
            Mao,Y.
  TITLE     Cloning and identification of a novel cDNA coding
            thioredoxin-related transmembrane protein 2
  JOURNAL   Biochem Genet 41 (3-4), 99-106 (2003)
   PUBMED   12670024
  REMARK    GeneRIF: molecular cloning and characterization of one member of
            the thioredoxin superfamily, designated as TMX2; the TMX2 cDNA
            consists of 1644 nucleotides and contains an open reading frame
            encoding a protein of 372 amino acids
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL037895.1, AF132965.1, AP001931.5 and BI762960.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_015959.3.
            
            Summary: This gene encodes a member of the disulfide isomerase
            (PDI) family of endoplasmic reticulum (ER) proteins that catalyze
            protein folding and thiol-disulfide interchange reactions. The
            encoded protein has an N-terminal ER-signal sequence, a
            catalytically active thioredoxin domain, one transmembrane domain
            and a C-terminal ER-retention sequence. This protein is enriched on
            the mitochondria-associated-membrane of the ER via palmitoylation
            of two of its cytosolically exposed cysteines. [provided by RefSeq,
            Jan 2017].
            
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice junction compared to variant 5. The resulting isoform (1)
            has the same N- and C-termini but is shorter compared to isoform 4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1029448.1,
                                           SRR3476690.371891.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278422.9/ ENSP00000278422.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AL037895.1         75-95
            22-985              AF132965.1         45-1008
            986-1641            AP001931.5         20371-21026
            1642-1645           BI762960.1         141-144
FEATURES             Location/Qualifiers
     source          1..1645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1645
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /note="thioredoxin related transmembrane protein 2"
                     /db_xref="GeneID:51075"
                     /db_xref="HGNC:HGNC:30739"
                     /db_xref="MIM:616715"
     exon            1..215
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..917
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; protein disulfide isomerase family A, member
                     12; growth-inhibiting gene 11; thioredoxin
                     domain-containing protein 14; cell proliferation-inducing
                     gene 26 protein"
                     /codon_start=1
                     /product="thioredoxin-related transmembrane protein 2
                     isoform 1 precursor"
                     /protein_id="NP_057043.1"
                     /db_xref="CCDS:CCDS7967.1"
                     /db_xref="GeneID:51075"
                     /db_xref="HGNC:HGNC:30739"
                     /db_xref="MIM:616715"
                     /translation="MAVLAPLIALVYSVPRLSRWLAQPYYLLSALLSAAFLLVRKLPP
                     LCHGLPTQREDGNPCDFDWREVEILMFLSAIVMMKNRRSITVEQHIGNIFMFSKVANT
                     ILFFRLDIRMGLLYITLCIVFLMTCKPPLYMGPEYIKYFNDKTIDEELERDKRVTWIV
                     EFFANWSNDCQSFAPIYADLSLKYNCTGLNFGKVDVGRYTDVSTRYKVSTSPLTKQLP
                     TLILFQGGKEAMRRPQIDKKGRAVSWTFSEENVIREFNLNELYQRAKKLSKAGDNIPE
                     EQPVASTPTTVSDGENKKDK"
     exon            216..276
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     exon            277..390
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     exon            391..467
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     exon            468..574
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     exon            575..640
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     exon            641..770
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     exon            771..1645
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1619..1624
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /note="hexamer: AATAAA"
     polyA_site      1645
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /note="major polyA site"
ORIGIN      
        1 gagcagtggc cgttacggcc gaaaagatgg cggtcttggc acctctaatt gctctcgtgt
       61 attcggtgcc gcgactttca cgatggctcg cccaacctta ctaccttctg tcggccctgc
      121 tctctgctgc cttcctactc gtgaggaaac tgccgccgct ctgccacggt ctgcccaccc
      181 aacgcgaaga cggtaacccg tgtgactttg actggagaga agtggagatc ctgatgtttc
      241 tcagtgccat tgtgatgatg aagaaccgca gatccatcac tgtggagcaa catataggca
      301 acattttcat gtttagtaaa gtggccaaca caattctttt cttccgcttg gatattcgca
      361 tgggcctact ttacatcaca ctctgcatag tgttcctgat gacgtgcaaa ccccccctat
      421 atatgggccc tgagtatatc aagtacttca atgataaaac cattgatgag gaactagaac
      481 gggacaagag ggtcacttgg attgtggagt tctttgccaa ttggtctaat gactgccaat
      541 catttgcccc tatctatgct gacctctccc ttaaatacaa ctgtacaggg ctaaattttg
      601 ggaaggtgga tgttggacgc tatactgatg ttagtacgcg gtacaaagtg agcacatcac
      661 ccctcaccaa gcaactccct accctgatcc tgttccaagg tggcaaggag gcaatgcggc
      721 ggccacagat tgacaagaaa ggacgggctg tctcatggac cttctctgag gagaatgtga
      781 tccgagaatt taacttaaat gagctatacc agcgggccaa gaaactatca aaggctggag
      841 acaatatccc tgaggagcag cctgtggctt caacccccac cacagtgtca gatggggaaa
      901 acaagaagga taaataagat cctcactttg gcagtgcttc ctctcctgtc aattccaggc
      961 tctttccata accacaagcc tgaggctgca gccttttatt tatgttttcc ctttggctgt
     1021 gactgggtgg ggcagcatgc agcttctgat tttaaagagg catctaggga attgtcaggc
     1081 accctacagg aaggcctgcc atgctgtggc caactgtttc actggagcaa gaaagagatc
     1141 tcataggacg gagggggaaa tggtttccct ccaagcttgg gtcagtgtgt taactgctta
     1201 tcagctattc agacatctcc atggtttctc catgaaactc tgtggtttca tcattccttc
     1261 ttagttgacc tgcacagctt ggttagacct agatttaacc ctaaggtaag atgctggggt
     1321 atagaacgct aagaattttc ccccaaggac tcttgcttcc ttaagccctt ctggcttcgt
     1381 ttatggtctt cattaaaagt ataagcctaa ctttgtcgct agtcctaagg agaaaccttt
     1441 aaccacaaag tttttatcat tgaagacaat attgaacaac cccctatttt gtggggattg
     1501 agaaggggtg aatagaggct tgagactttc ctttgtgtgg taggacttgg aggagaaatc
     1561 ccctggactt tcactaaccc tctgacatac tccccacacc cagttgatgg ctttccgtaa
     1621 taaaaagatt gggatttcct tttga
//
