LOCUS       NM_001322141            3793 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transport and golgi organization 2 homolog (TANGO2),
            transcript variant 15, mRNA.
ACCESSION   NM_001322141
VERSION     NM_001322141.2
KEYWORDS    RefSeq.
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 3793)
  AUTHORS   Mehranfar,M., Asadi,P., Shokohi,R., Milev,M.P., Gamberi,C. and
            Sacher,M.
  TITLE     Lipidomic analysis of human TANGO2-deficient cells suggests a lipid
            imbalance as a cause of TANGO2 deficiency disease
  JOURNAL   Biochem Biophys Res Commun 717, 150047 (2024)
   PUBMED   38718569
  REMARK    GeneRIF: Lipidomic analysis of human TANGO2-deficient cells
            suggests a lipid imbalance as a cause of TANGO2 deficiency disease.
REFERENCE   2  (bases 1 to 3793)
  AUTHORS   Hussain,S.I., Muhammad,N., Khan,N., Khan,M., Fardous,F., Tahir,R.,
            Yasin,M., Khan,S.A., Saleha,S., Muhammad,N., Wasif,N. and Khan,S.
  TITLE     Molecular insight into CREBBP and TANGO2 variants causing
            intellectual disability
  JOURNAL   J Gene Med 26 (1), e3591 (2024)
   PUBMED   37721116
  REMARK    GeneRIF: Molecular insight into CREBBP and TANGO2 variants causing
            intellectual disability.
REFERENCE   3  (bases 1 to 3793)
  AUTHORS   Lujan,A.L., Foresti,O., Sugden,C., Brouwers,N., Farre,A.M.,
            Vignoli,A., Azamian,M., Turner,A., Wojnacki,J. and Malhotra,V.
  TITLE     Defects in lipid homeostasis reflect the function of TANGO2 in
            phospholipid and neutral lipid metabolism
  JOURNAL   Elife 12, e85345 (2023)
   PUBMED   36961129
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3793)
  AUTHORS   Heiman,P., Mohsen,A.W., Karunanidhi,A., St Croix,C., Watkins,S.,
            Koppes,E., Haas,R., Vockley,J. and Ghaloul-Gonzalez,L.
  TITLE     Mitochondrial dysfunction associated with TANGO2 deficiency
  JOURNAL   Sci Rep 12 (1), 3045 (2022)
   PUBMED   35197517
  REMARK    GeneRIF: Mitochondrial dysfunction associated with TANGO2
            deficiency.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3793)
  AUTHORS   Kremer,L.S., Distelmaier,F., Alhaddad,B., Hempel,M., Iuso,A.,
            Kupper,C., Muhlhausen,C., Kovacs-Nagy,R., Satanovskij,R., Graf,E.,
            Berutti,R., Eckstein,G., Durbin,R., Sauer,S., Hoffmann,G.F.,
            Strom,T.M., Santer,R., Meitinger,T., Klopstock,T., Prokisch,H. and
            Haack,T.B.
  TITLE     Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset
            Recurrent Metabolic Crises with Encephalocardiomyopathy
  JOURNAL   Am J Hum Genet 98 (2), 358-362 (2016)
   PUBMED   26805782
REFERENCE   6  (bases 1 to 3793)
  AUTHORS   Lalani,S.R., Liu,P., Rosenfeld,J.A., Watkin,L.B., Chiang,T.,
            Leduc,M.S., Zhu,W., Ding,Y., Pan,S., Vetrini,F., Miyake,C.Y.,
            Shinawi,M., Gambin,T., Eldomery,M.K., Akdemir,Z.H., Emrick,L.,
            Wilnai,Y., Schelley,S., Koenig,M.K., Memon,N., Farach,L.S.,
            Coe,B.P., Azamian,M., Hernandez,P., Zapata,G., Jhangiani,S.N.,
            Muzny,D.M., Lotze,T., Clark,G., Wilfong,A., Northrup,H.,
            Adesina,A., Bacino,C.A., Scaglia,F., Bonnen,P.E., Crosson,J.,
            Duis,J., Maegawa,G.H., Coman,D., Inwood,A., McGill,J.,
            Boerwinkle,E., Graham,B., Beaudet,A., Eng,C.M., Hanchard,N.A.,
            Xia,F., Orange,J.S., Gibbs,R.A., Lupski,J.R. and Yang,Y.
  TITLE     Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises,
            and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
  JOURNAL   Am J Hum Genet 98 (2), 347-357 (2016)
   PUBMED   26805781
  REMARK    GeneRIF: Exons 3-9 heterozygous deletion in TANGO2 are recurrent
            pathogenic alleles present in the Latino/Hispanic and European
            populations, respectively, causing considerable morbidity in the
            homozygotes in these populations.
REFERENCE   7  (bases 1 to 3793)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (bases 1 to 3793)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
            Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3793)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (bases 1 to 3793)
  AUTHORS   Miyake,C.Y., Burrage,L., Glinton,K., Houck,K., Hoyos-Martinez,A.,
            Graham,B., Yang,Y., Rawls-Castillo,B., Scaglia,F., Soler-Alfonso,C.
            and Lalani,S.R.
  TITLE     TANGO2 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29369572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005663.2, BP193987.1,
            BG685068.1 and AC006547.9.
            
            On Aug 13, 2020 this sequence version replaced NM_001322141.1.
            
            Summary: This gene belongs to the transport and Golgi organization
            family, whose members are predicted to play roles in secretory
            protein loading in the endoplasmic reticulum. Depletion of this
            gene in Drosophila S2 cells causes fusion of the Golgi with the ER.
            In mouse tissue culture cells, this protein co-localizes with a
            mitochondrially targeted mCherry protein and displays very low
            levels of co-localization with Golgi and peroxisomes. Allelic
            variants of this gene are associated with rhabdomyolysis, metabolic
            crises with encephalopathy, and cardiac arrhythmia. [provided by
            RefSeq, Apr 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14372080.2898759.1,
                                           SRR1660803.98530.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC005663.2         74929-74929
            2-583               BP193987.1         1-582
            584-993             BG685068.1         235-644
            994-1170            AC006547.9         24453-24629
            1171-3793           AC006547.9         25573-28195
FEATURES             Location/Qualifiers
     source          1..3793
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..3793
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="transport and golgi organization 2 homolog"
                     /db_xref="GeneID:128989"
                     /db_xref="HGNC:HGNC:25439"
                     /db_xref="MIM:616830"
     exon            1..25
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            26..360
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     CDS             182..1291
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="isoform i is encoded by transcript variant 15;
                     transport and Golgi organization protein 2 homolog"
                     /codon_start=1
                     /product="transport and Golgi organization protein 2
                     homolog isoform i"
                     /protein_id="NP_001309070.1"
                     /db_xref="GeneID:128989"
                     /db_xref="HGNC:HGNC:25439"
                     /db_xref="MIM:616830"
                     /translation="MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTP
                     VNVQRREDSATEGSHRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTW
                     LGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
                     NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEA
                     VERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYG
                     TRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTI
                     ILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS"
     exon            361..449
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            450..569
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            570..684
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            685..755
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            756..909
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1170
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..3793
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2527..2532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="hexamer: AATAAA"
     polyA_site      2555
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="major polyA site"
ORIGIN      
        1 gaagtcggcg gcggtggcgg aggcgacctc gcgacctgtg tcagcagagc cgccctgcac
       61 caccatgtgc atcatcttct ttaagtttga tcctcgccct gtttccaaaa acgcgtacag
      121 gtaaccccct cgctctgcat ctgctgcgcc ctgcagggtc ctgggtgccc agccagttct
      181 catgccaccc aagctgctgt gtgcaggaag gtgtgtgggc caggacgggg ctgcacaggc
      241 ctggcactgc cctccaggac agggtcactc agtgtgggat gctgtcagaa tgcctctcgg
      301 ggcggggact ccagtcaatg tacaaagacg tgaagactca gccacagaag gcagccacag
      361 gctcatcttg gcagccaaca gggatgaatt ctacagccga ccctccaagt tagctgactt
      421 ctgggggaac aacaacgaga tcctcagtgg gctggacatg gaggaaggca aggaaggagg
      481 cacatggctg ggcatcagca cacgtggcaa gctggcagca ctcaccaact acctgcagcc
      541 gcagctggac tggcaggccc gagggcgagg tgaacttgtc acccactttc tgaccactga
      601 cgtggacagc ttgtcctacc tgaagaaggt ctctatggag ggccatctgt acaatggctt
      661 caacctcata gcagccgacc tgagcacagc aaagggagac gtcatttgct actatgggaa
      721 ccgaggggag cctgatccta tcgttttgac gccaggcacc tacgggctga gcaacgcgct
      781 gctggagact ccctggagga agctgtgctt tgggaagcag ctcttcctgg aggctgtgga
      841 acggagccag gcgctgccca aggatgtgct catcgccagc ctcctggatg tgctcaacaa
      901 tgaagaggcg cagctgccag acccggccat cgaggaccag ggtggggagt acgtgcagcc
      961 catgctgagc aagtacgcgg ctgtgtgcgt gcgctgccct ggctacggca ccaggtattg
     1021 cagcaccgtg ggtgcgccac ctcctatccc atgtcccacc tcccacgcta gagggccggc
     1081 aaagaagcca agtgcccata gccagagcca ggcttcttcc tcgcctgagt ggattccaga
     1141 gcttctgccc tgtccagacg cagctgcagg aaccaacact atcatcctgg tagatgcgga
     1201 cggccacgtg accttcactg agcgtagcat gatggacaag gacctctccc actgggagac
     1261 cagaacctat gagttcacac tgcagagcta accccacctc tgggcctggc cagtgggctc
     1321 ctggggggcc ctgccttgag gggcactgtg gacaggaaac cttcctttgc catactgcat
     1381 tgcactgccc gtggcttggc cagcatcccc cggatcaggg ccctgtggtt tgcgtgttac
     1441 ccatctgtgt ccccatgccc agttcagggt ctgcctttat gccagtgagg agcagcagag
     1501 tctgatacta ggtctaggac cggccgaggt ataccatgaa catgtggata cacctgagcc
     1561 cactcttgca catgtacaca ggcactcaca tggcacacac atacactcct gcgtgtgcac
     1621 aagcacacac atgcaagcca tatacatgga caccgacaca ggcacatgta cgtgcacagg
     1681 tgtgctacac atgtgcacac atgcacagtt gcacagacac acacacacag gtgcacacac
     1741 acgatgccga acaaggcaga agggcgactc tcacctctca tgtgcttctg gccagtaggt
     1801 ctttgttctg gtccaacgac aggagtaggc ttgtatttaa aagcggcccc tcctctcctg
     1861 tggccacaga acacaggcgt gcttggactc ttgacaagca gacctgctcc tgcagaggag
     1921 acagccacat ttggaattgg gcaccgagaa gacctgagaa aaacccactc tctctttttt
     1981 ttttttttga gacggagtct tgctctgtca cccaggctgg agtgcagtgg cacgatctcg
     2041 gctcactgca acctccgcct cccaagttca agcaattctc ctgccccagc ctcctgatta
     2101 gctgggatta caggcgtgtg ccaccatgcc cagctaattt ttgtgttttt agtagagacg
     2161 gggtttcacc atgttggtca ggctggtctt gaactcctga cgtggtgatc cacctgcctc
     2221 ggcctcccaa agtgctggga ttacaggcgt gagccaccac gcctggccga aaaacccact
     2281 ctcataacag aagtgcagac tcattgctag attcagtgcc cttgagtgtg ccagaggtcc
     2341 tctgtgtttg agacaatcct gtgtgtgcca ggaggctccg tgtgcaccag gggctctcag
     2401 aatcccgctt acccagctgg agaccatgcc tctggcagcc ccatctcagc cagccctgct
     2461 ctctccctct tccctccagg tgaggcaaac ttcataggaa tctgtacctg aatgtgagct
     2521 cctgataata aaactctgag gctttggtga gcgcatttcg aggcctttcc cttgtatgca
     2581 gggtgccagt gggagctgct atgtctcctg tgcagccaga caccctggac gaggcccttc
     2641 ccacctcccc ctttcctcac ggcttcttca gcaccacatg tggatgcctg tgggtcagtc
     2701 catctgtcca tgggcagggg ccgctgtgag agaccccatg cgcgtgggat gtggtagatg
     2761 ctgattatgg ggccagccac ccatacaggt ctatcaggtc gcaatggagg ccccactgga
     2821 gcgggaggca ggctggcctg gacttctgtt ggatgatggg ggccagggga tggtaggagg
     2881 ggcaggagag caggtctgca tctgtctcag ccccaggagc tcctggtttg gggccagctc
     2941 taaggagctt catccctgag cctggccgag tataaggggg tcccggatat ccaatgctga
     3001 gacctagact tttctaagcc tctgcaccca acccctaact tggccttttc agacccatga
     3061 gagtgcaggg tgggtgtgga cctgcgccag ggcttcccag cctgattgtg acatgatgtg
     3121 agtccaccta gggaggagca ggggcctccc cgtctcttcc ccttcttgcc cagaccactt
     3181 tgctgggctc agagccttcc atggctcact ttgaactcag aagagtttcc cagctgcgac
     3241 ccaggctgca cccccaggcc tgaggagaaa ctgaggcccc acatcccata cgtgtcctct
     3301 gagtcaggac aacaggctcc cggctggggg cactgccctt gctgccaaca cattcacctg
     3361 ccccagtggc taccatgtcc tgtgccggtg accagtgcca gtccccaacc tggatggtgc
     3421 cctgccctca tgaagagccc cccggatgtt cacctctgcc cagagacccg gcctgcccag
     3481 gaagagcagt ctctgctctt gtgtgggtcc ctctgccccc accctgccca gggctcccca
     3541 gcagcctgag gcccctaagg aagaacagcc ctcaatggtg attctattgg tgttatgagt
     3601 tgtgtcccca aagagatata tcagtgtcct gacccacagt acctcagaat gtgactgcat
     3661 ttggagatag ggttcttcca ggggtaacca aggtagaatg aggtcgttag tgtgggccct
     3721 aatccaatat gacggctatc cttataaaaa gaggaacatt taggctggat acagtggctc
     3781 atgcctataa tcc
//
