LOCUS       NM_001322173            3522 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transport and golgi organization 2 homolog (TANGO2),
            transcript variant 35, mRNA.
ACCESSION   NM_001322173
VERSION     NM_001322173.2
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 3522)
  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 3522)
  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 3522)
  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 3522)
  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 3522)
  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 3522)
  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 3522)
  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 3522)
  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 3522)
  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 3522)
  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 and AC006547.9.
            
            On Aug 13, 2020 this sequence version replaced NM_001322173.1.
            
            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: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1660809.120496.1,
                                           SRR14038195.330631.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AC005663.2         74929-74953
            26-360              AC005663.2         90579-90913
            361-449             AC005663.2         97174-97262
            450-569             AC006547.9         13496-13615
            570-640             AC006547.9         16974-17044
            641-794             AC006547.9         22561-22714
            795-899             AC006547.9         24369-24473
            900-3522            AC006547.9         25573-28195
FEATURES             Location/Qualifiers
     source          1..3522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..3522
                     /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"
     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"
     CDS             484..1020
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="isoform g is encoded by transcript variant 35;
                     transport and Golgi organization protein 2 homolog"
                     /codon_start=1
                     /product="transport and Golgi organization protein 2
                     homolog isoform g"
                     /protein_id="NP_001309102.1"
                     /db_xref="CCDS:CCDS63407.1"
                     /db_xref="GeneID:128989"
                     /db_xref="HGNC:HGNC:25439"
                     /db_xref="MIM:616830"
                     /translation="MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGE
                     PDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNE
                     EAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMM
                     DKDLSHWETRTYEFTLQS"
     exon            570..640
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            641..794
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            795..899
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            900..3522
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2256..2261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="hexamer: AATAAA"
     polyA_site      2284
                     /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 gagggcgagc acagcaaagg gagacgtcat ttgctactat
      601 gggaaccgag gggagcctga tcctatcgtt ttgacgccag gcacctacgg gctgagcaac
      661 gcgctgctgg agactccctg gaggaagctg tgctttggga agcagctctt cctggaggct
      721 gtggaacgga gccaggcgct gcccaaggat gtgctcatcg ccagcctcct ggatgtgctc
      781 aacaatgaag aggcgcagct gccagacccg gccatcgagg accagggtgg ggagtacgtg
      841 cagcccatgc tgagcaagta cgcggctgtg tgcgtgcgct gccctggcta cggcaccaga
      901 accaacacta tcatcctggt agatgcggac ggccacgtga ccttcactga gcgtagcatg
      961 atggacaagg acctctccca ctgggagacc agaacctatg agttcacact gcagagctaa
     1021 ccccacctct gggcctggcc agtgggctcc tggggggccc tgccttgagg ggcactgtgg
     1081 acaggaaacc ttcctttgcc atactgcatt gcactgcccg tggcttggcc agcatccccc
     1141 ggatcagggc cctgtggttt gcgtgttacc catctgtgtc cccatgccca gttcagggtc
     1201 tgcctttatg ccagtgagga gcagcagagt ctgatactag gtctaggacc ggccgaggta
     1261 taccatgaac atgtggatac acctgagccc actcttgcac atgtacacag gcactcacat
     1321 ggcacacaca tacactcctg cgtgtgcaca agcacacaca tgcaagccat atacatggac
     1381 accgacacag gcacatgtac gtgcacaggt gtgctacaca tgtgcacaca tgcacagttg
     1441 cacagacaca cacacacagg tgcacacaca cgatgccgaa caaggcagaa gggcgactct
     1501 cacctctcat gtgcttctgg ccagtaggtc tttgttctgg tccaacgaca ggagtaggct
     1561 tgtatttaaa agcggcccct cctctcctgt ggccacagaa cacaggcgtg cttggactct
     1621 tgacaagcag acctgctcct gcagaggaga cagccacatt tggaattggg caccgagaag
     1681 acctgagaaa aacccactct ctcttttttt tttttttgag acggagtctt gctctgtcac
     1741 ccaggctgga gtgcagtggc acgatctcgg ctcactgcaa cctccgcctc ccaagttcaa
     1801 gcaattctcc tgccccagcc tcctgattag ctgggattac aggcgtgtgc caccatgccc
     1861 agctaatttt tgtgttttta gtagagacgg ggtttcacca tgttggtcag gctggtcttg
     1921 aactcctgac gtggtgatcc acctgcctcg gcctcccaaa gtgctgggat tacaggcgtg
     1981 agccaccacg cctggccgaa aaacccactc tcataacaga agtgcagact cattgctaga
     2041 ttcagtgccc ttgagtgtgc cagaggtcct ctgtgtttga gacaatcctg tgtgtgccag
     2101 gaggctccgt gtgcaccagg ggctctcaga atcccgctta cccagctgga gaccatgcct
     2161 ctggcagccc catctcagcc agccctgctc tctccctctt ccctccaggt gaggcaaact
     2221 tcataggaat ctgtacctga atgtgagctc ctgataataa aactctgagg ctttggtgag
     2281 cgcatttcga ggcctttccc ttgtatgcag ggtgccagtg ggagctgcta tgtctcctgt
     2341 gcagccagac accctggacg aggcccttcc cacctccccc tttcctcacg gcttcttcag
     2401 caccacatgt ggatgcctgt gggtcagtcc atctgtccat gggcaggggc cgctgtgaga
     2461 gaccccatgc gcgtgggatg tggtagatgc tgattatggg gccagccacc catacaggtc
     2521 tatcaggtcg caatggaggc cccactggag cgggaggcag gctggcctgg acttctgttg
     2581 gatgatgggg gccaggggat ggtaggaggg gcaggagagc aggtctgcat ctgtctcagc
     2641 cccaggagct cctggtttgg ggccagctct aaggagcttc atccctgagc ctggccgagt
     2701 ataagggggt cccggatatc caatgctgag acctagactt ttctaagcct ctgcacccaa
     2761 cccctaactt ggccttttca gacccatgag agtgcagggt gggtgtggac ctgcgccagg
     2821 gcttcccagc ctgattgtga catgatgtga gtccacctag ggaggagcag gggcctcccc
     2881 gtctcttccc cttcttgccc agaccacttt gctgggctca gagccttcca tggctcactt
     2941 tgaactcaga agagtttccc agctgcgacc caggctgcac ccccaggcct gaggagaaac
     3001 tgaggcccca catcccatac gtgtcctctg agtcaggaca acaggctccc ggctgggggc
     3061 actgcccttg ctgccaacac attcacctgc cccagtggct accatgtcct gtgccggtga
     3121 ccagtgccag tccccaacct ggatggtgcc ctgccctcat gaagagcccc ccggatgttc
     3181 acctctgccc agagacccgg cctgcccagg aagagcagtc tctgctcttg tgtgggtccc
     3241 tctgccccca ccctgcccag ggctccccag cagcctgagg cccctaagga agaacagccc
     3301 tcaatggtga ttctattggt gttatgagtt gtgtccccaa agagatatat cagtgtcctg
     3361 acccacagta cctcagaatg tgactgcatt tggagatagg gttcttccag gggtaaccaa
     3421 ggtagaatga ggtcgttagt gtgggcccta atccaatatg acggctatcc ttataaaaag
     3481 aggaacattt aggctggata cagtggctca tgcctataat cc
//
