LOCUS       NM_152906               3509 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens transport and golgi organization 2 homolog (TANGO2),
            transcript variant 2, mRNA.
ACCESSION   NM_152906
VERSION     NM_152906.7
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 3509)
  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 3509)
  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 3509)
  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 3509)
  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 3509)
  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 3509)
  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 3509)
  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 3509)
  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 3509)
  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 3509)
  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 BC041339.1, AK297922.1,
            AA969089.1 and AC006547.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_152906.6.
            
            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 :: SRR1803612.205510.1,
                                           SRR1660807.98250.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327374.9/ ENSP00000332721.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-548               BC041339.1         5-552
            549-556             AK297922.1         436-443
            557-773             BC041339.1         561-777
            774-779             AK297922.1         661-666
            780-1704            BC041339.1         784-1708
            1705-2238           BC041339.1         1710-2243
            2239-2271           AA969089.1         18-50               c
            2272-3509           AC006547.9         26958-28195
FEATURES             Location/Qualifiers
     source          1..3509
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..3509
                     /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..137
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            138..232
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     CDS             177..1007
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="isoform a is encoded by transcript variant 2;
                     transport and Golgi organization protein 2 homolog"
                     /codon_start=1
                     /product="transport and Golgi organization protein 2
                     homolog isoform a"
                     /protein_id="NP_690870.3"
                     /db_xref="CCDS:CCDS13772.1"
                     /db_xref="GeneID:128989"
                     /db_xref="HGNC:HGNC:25439"
                     /db_xref="MIM:616830"
                     /translation="MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNN
                     EILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDS
                     LSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
                     ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQ
                     PMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS
                     "
     exon            233..321
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            322..441
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            442..556
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            557..627
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            628..781
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            782..886
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     exon            887..3509
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2243..2248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="hexamer: AATAAA"
     polyA_site      2271
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /note="major polyA site"
ORIGIN      
        1 gaagtcggcg gcggtggcgg aggcggtgag tgcgcggctc cggggctggc cgactccgct
       61 agtggcccgg ccggcctggg ctcgggggct ccgggctctg ggctctgggt gcgcggaccg
      121 ggccaggctg cttgaagacc tcgcgacctg tgtcagcaga gccgccctgc accaccatgt
      181 gcatcatctt ctttaagttt gatcctcgcc ctgtttccaa aaacgcgtac aggctcatct
      241 tggcagccaa cagggatgaa ttctacagcc gaccctccaa gttagctgac ttctggggga
      301 acaacaacga gatcctcagt gggctggaca tggaggaagg caaggaagga ggcacatggc
      361 tgggcatcag cacacgtggc aagctggcag cactcaccaa ctacctgcag ccgcagctgg
      421 actggcaggc ccgagggcga ggtgaacttg tcacccactt tctgaccact gacgtggaca
      481 gcttgtccta cctgaagaag gtctctatgg agggccatct gtacaatggc ttcaacctca
      541 tagcagccga cctgagcaca gcaaagggag acgtcatttg ctactatggg aaccgagggg
      601 agcctgatcc tatcgttttg acgccaggca cctacgggct gagcaacgcg ctgctggaga
      661 ctccctggag gaagctgtgc tttgggaagc agctcttcct ggaggctgtg gaacggagcc
      721 aggcgctgcc caaggatgtg ctcatcgcca gcctcctgga tgtgctcaac aatgaagagg
      781 cgcagctgcc agacccggcc atcgaggacc agggtgggga gtacgtgcag cccatgctga
      841 gcaagtacgc ggctgtgtgc gtgcgctgcc ctggctacgg caccagaacc aacactatca
      901 tcctggtaga tgcggacggc cacgtgacct tcactgagcg tagcatgatg gacaaggacc
      961 tctcccactg ggagaccaga acctatgagt tcacactgca gagctaaccc cacctctggg
     1021 cctggccagt gggctcctgg ggggccctgc cttgaggggc actgtggaca ggaaaccttc
     1081 ctttgccata ctgcattgca ctgcccgtgg cttggccagc atcccccgga tcagggccct
     1141 gtggtttgcg tgttacccat ctgtgtcccc atgcccagtt cagggtctgc ctttatgcca
     1201 gtgaggagca gcagagtctg atactaggtc taggaccggc cgaggtatac catgaacatg
     1261 tggatacacc tgagcccact cttgcacatg tacacaggca ctcacatggc acacacatac
     1321 actcctgcgt gtgcacaagc acacacatgc aagccatata catggacacc gacacaggca
     1381 catgtacgtg cacaggtgtg ctacacatgt gcacacatgc acagttgcac agacacacac
     1441 acacaggtgc acacacacga tgccgaacaa ggcagaaggg cgactctcac ctctcatgtg
     1501 cttctggcca gtaggtcttt gttctggtcc aacgacagga gtaggcttgt atttaaaagc
     1561 ggcccctcct ctcctgtggc cacagaacac aggcgtgctt ggactcttga caagcagacc
     1621 tgctcctgca gaggagacag ccacatttgg aattgggcac cgagaagacc tgagaaaaac
     1681 ccactctctc tttttttttt ttttgagacg gagtcttgct ctgtcaccca ggctggagtg
     1741 cagtggcacg atctcggctc actgcaacct ccgcctccca agttcaagca attctcctgc
     1801 cccagcctcc tgattagctg ggattacagg cgtgtgccac catgcccagc taatttttgt
     1861 gtttttagta gagacggggt ttcaccatgt tggtcaggct ggtcttgaac tcctgacgtg
     1921 gtgatccacc tgcctcggcc tcccaaagtg ctgggattac aggcgtgagc caccacgcct
     1981 ggccgaaaaa cccactctca taacagaagt gcagactcat tgctagattc agtgcccttg
     2041 agtgtgccag aggtcctctg tgtttgagac aatcctgtgt gtgccaggag gctccgtgtg
     2101 caccaggggc tctcagaatc ccgcttaccc agctggagac catgcctctg gcagccccat
     2161 ctcagccagc cctgctctct ccctcttccc tccaggtgag gcaaacttca taggaatctg
     2221 tacctgaatg tgagctcctg ataataaaac tctgaggctt tggtgagcgc atttcgaggc
     2281 ctttcccttg tatgcagggt gccagtggga gctgctatgt ctcctgtgca gccagacacc
     2341 ctggacgagg cccttcccac ctcccccttt cctcacggct tcttcagcac cacatgtgga
     2401 tgcctgtggg tcagtccatc tgtccatggg caggggccgc tgtgagagac cccatgcgcg
     2461 tgggatgtgg tagatgctga ttatggggcc agccacccat acaggtctat caggtcgcaa
     2521 tggaggcccc actggagcgg gaggcaggct ggcctggact tctgttggat gatgggggcc
     2581 aggggatggt aggaggggca ggagagcagg tctgcatctg tctcagcccc aggagctcct
     2641 ggtttggggc cagctctaag gagcttcatc cctgagcctg gccgagtata agggggtccc
     2701 ggatatccaa tgctgagacc tagacttttc taagcctctg cacccaaccc ctaacttggc
     2761 cttttcagac ccatgagagt gcagggtggg tgtggacctg cgccagggct tcccagcctg
     2821 attgtgacat gatgtgagtc cacctaggga ggagcagggg cctccccgtc tcttcccctt
     2881 cttgcccaga ccactttgct gggctcagag ccttccatgg ctcactttga actcagaaga
     2941 gtttcccagc tgcgacccag gctgcacccc caggcctgag gagaaactga ggccccacat
     3001 cccatacgtg tcctctgagt caggacaaca ggctcccggc tgggggcact gcccttgctg
     3061 ccaacacatt cacctgcccc agtggctacc atgtcctgtg ccggtgacca gtgccagtcc
     3121 ccaacctgga tggtgccctg ccctcatgaa gagccccccg gatgttcacc tctgcccaga
     3181 gacccggcct gcccaggaag agcagtctct gctcttgtgt gggtccctct gcccccaccc
     3241 tgcccagggc tccccagcag cctgaggccc ctaaggaaga acagccctca atggtgattc
     3301 tattggtgtt atgagttgtg tccccaaaga gatatatcag tgtcctgacc cacagtacct
     3361 cagaatgtga ctgcatttgg agatagggtt cttccagggg taaccaaggt agaatgaggt
     3421 cgttagtgtg ggccctaatc caatatgacg gctatcctta taaaaagagg aacatttagg
     3481 ctggatacag tggctcatgc ctataatcc
//
