TNG2_HUMAN
ID TNG2_HUMAN Reviewed; 276 AA.
AC Q6ICL3; A8MUE9; B7WNV6; B7Z583; B7Z730; D3DX23; Q8IW05; Q8NAL0; Q8TCS0;
AC Q96M16;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Transport and Golgi organization protein 2 homolog;
GN Name=TANGO2; Synonyms=C22orf25;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4; 5 AND 6).
RC TISSUE=Caudate nucleus, Hippocampus, Mesangial cell, Placenta, Synovium,
RC and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASN-125
RP AND LYS-200.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-276 (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP INVOLVEMENT IN MECRCN, VARIANT MECRCN ARG-154, AND SUBCELLULAR LOCATION.
RX PubMed=26805781; DOI=10.1016/j.ajhg.2015.12.008;
RA Lalani S.R., Liu P., Rosenfeld J.A., Watkin L.B., Chiang T., Leduc M.S.,
RA Zhu W., Ding Y., Pan S., Vetrini F., Miyake C.Y., Shinawi M., Gambin T.,
RA Eldomery M.K., Akdemir Z.H., Emrick L., Wilnai Y., Schelley S.,
RA Koenig M.K., Memon N., Farach L.S., Coe B.P., Azamian M., Hernandez P.,
RA Zapata G., Jhangiani S.N., Muzny D.M., Lotze T., Clark G., Wilfong A.,
RA Northrup H., Adesina A., Bacino C.A., Scaglia F., Bonnen P.E., Crosson J.,
RA Duis J., Maegawa G.H., Coman D., Inwood A., McGill J., Boerwinkle E.,
RA Graham B., Beaudet A., Eng C.M., Hanchard N.A., Xia F., Orange J.S.,
RA Gibbs R.A., Lupski J.R., Yang Y.;
RT "Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and
RT cardiac arrhythmia due to bi-allelic TANGO2 mutations.";
RL Am. J. Hum. Genet. 98:347-357(2016).
RN [8]
RP VARIANT MECRCN 140-ARG--SER-256 DEL.
RX PubMed=26805782; DOI=10.1016/j.ajhg.2015.12.009;
RA Kremer L.S., Distelmaier F., Alhaddad B., Hempel M., Iuso A., Kuepper C.,
RA Muehlhausen C., Kovacs-Nagy R., Satanovskij R., Graf E., Berutti R.,
RA Eckstein G., Durbin R., Sauer S., Hoffmann G.F., Strom T.M., Santer R.,
RA Meitinger T., Klopstock T., Prokisch H., Haack T.B.;
RT "Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent
RT metabolic crises with encephalocardiomyopathy.";
RL Am. J. Hum. Genet. 98:358-362(2016).
RN [9]
RP VARIANTS MECRCN LYS-26; 32-ARG--SER-276 DEL AND CYS-89.
RX PubMed=30245509; DOI=10.1038/s41436-018-0137-y;
RA Dines J.N., Golden-Grant K., LaCroix A., Muir A.M., Cintron D.L.,
RA McWalter K., Cho M.T., Sun A., Merritt J.L., Thies J., Niyazov D.,
RA Burton B., Kim K., Fleming L., Westman R., Karachunski P., Dalton J.,
RA Basinger A., Ficicioglu C., Helbig I., Pendziwiat M., Muhle H.,
RA Helbig K.L., Caliebe A., Santer R., Becker K., Suchy S., Douglas G.,
RA Millan F., Begtrup A., Monaghan K.G., Mefford H.C.;
RT "TANGO2: expanding the clinical phenotype and spectrum of pathogenic
RT variants.";
RL Genet. Med. 21:601-607(2019).
RN [10]
RP ERRATUM OF PUBMED:30245509.
RX PubMed=30327536; DOI=10.1038/s41436-018-0336-6;
RA Dines J.N., Golden-Grant K., LaCroix A., Muir A.M., Cintron D.L.,
RA McWalter K., Cho M.T., Sun A., Merritt J.L., Thies J., Niyazov D.,
RA Burton B., Kim K., Fleming L., Westman R., Karachunski P., Dalton J.,
RA Basinger A., Ficicioglu C., Helbig I., Pendziwiat M., Muhle H.,
RA Helbig K.L., Caliebe A., Santer R., Becker K., Suchy S., Douglas G.,
RA Millan F., Begtrup A., Monaghan K.G., Mefford H.C.;
RL Genet. Med. 21:1899-1899(2019).
RN [11]
RP VARIANTS MECRCN ARG-20 AND 88-ARG--SER-276 DEL, AND SUBCELLULAR LOCATION.
RX PubMed=31276219; DOI=10.1002/jimd.12149;
RA Jennions E., Hedberg-Oldfors C., Berglund A.K., Kollberg G.,
RA Toernhage C.J., Eklund E.A., Oldfors A., Verloo P., Vanlander A.V.,
RA De Meirleir L., Seneca S., Sterky F.H., Darin N.;
RT "TANGO2 deficiency as a cause of neurodevelopmental delay with indirect
RT effects on mitochondrial energy metabolism.";
RL J. Inherit. Metab. Dis. 42:898-908(2019).
RN [12]
RP VARIANTS MECRCN PHE-5 DEL; PHE-6 DEL; PRO-74 AND 88-ARG--SER-276 DEL.
RX PubMed=31339582; DOI=10.1002/jimd.12156;
RA Mingirulli N., Pyle A., Hathazi D., Alston C.L., Kohlschmidt N.,
RA O'Grady G., Waddell L., Evesson F., Cooper S.B.T., Turner C., Duff J.,
RA Topf A., Yubero D., Jou C., Nascimento A., Ortez C., Garcia-Cazorla A.,
RA Gross C., O'Callaghan M., Santra S., Preece M.A., Champion M., Korenev S.,
RA Chronopoulou E., Anirban M., Pierre G., McArthur D., Thompson K., Navas P.,
RA Ribes A., Tort F., Schlueter A., Pujol A., Montero R., Sarquella G.,
RA Lochmueller H., Jimenez-Mallebrera C., Taylor R.W., Artuch R.,
RA Kirschner J., Gruenert S.C., Roos A., Horvath R.;
RT "Clinical presentation and proteomic signature of patients with TANGO2
RT mutations.";
RL J. Inherit. Metab. Dis. 43:297-308(2020).
RN [13]
RP VARIANT MECRCN 233-GLY--SER-276 DEL.
RX PubMed=33342685; DOI=10.1016/j.arcped.2020.11.004;
RA Hoebeke C., Cano A., De Lonlay P., Chabrol B.;
RT "Clinical phenotype associated with TANGO2 gene mutation.";
RL Arch. Pediatr. 28:80-86(2021).
RN [14]
RP VARIANTS MECRCN PRO-20; 32-ARG--SER-276 DEL; 86-ARG--SER-276 DEL;
RP 88-ARG--SER-276 DEL; 182-GLN--SER-276 DEL AND ILE-236.
RX PubMed=32929747; DOI=10.1002/jimd.12314;
RA Berat C.M., Montealegre S., Wiedemann A., Nuzum M.L.C., Blondel A.,
RA Debruge H., Cano A., Chabrol B., Hoebeke C., Polak M., Stoupa A.,
RA Feillet F., Torre S., Boddaert N., Bruel H., Barth M., Damaj L.,
RA Abi-Warde M.T., Afenjar A., Benoist J.F., Madrange M., Caccavelli L.,
RA Renard P., Hubas A., Nusbaum P., Pontoizeau C., Gobin S., van Endert P.,
RA Ottolenghi C., Maltret A., de Lonlay P.;
RT "Clinical and biological characterization of 20 patients with TANGO2
RT deficiency indicates novel triggers of metabolic crises and no primary
RT energetic defect.";
RL J. Inherit. Metab. Dis. 44:415-425(2021).
RN [15]
RP CHARACTERIZATION OF VARIANT MECRCN 140-ARG--SER-256 DEL, SUBCELLULAR
RP LOCATION, AND MUTAGENESIS OF 1-MET--TRP-40.
RX PubMed=32909282; DOI=10.1002/jimd.12312;
RA Milev M.P., Saint-Dic D., Zardoui K., Klopstock T., Law C., Distelmaier F.,
RA Sacher M.;
RT "The phenotype associated with variants in TANGO2 may be explained by a
RT dual role of the protein in ER-to-Golgi transport and at the
RT mitochondria.";
RL J. Inherit. Metab. Dis. 44:426-437(2021).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:31276219,
CC ECO:0000269|PubMed:32909282}. Mitochondrion
CC {ECO:0000269|PubMed:32909282}. Golgi apparatus
CC {ECO:0000269|PubMed:26805781}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q6ICL3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ICL3-2; Sequence=VSP_021139;
CC Name=3;
CC IsoId=Q6ICL3-3; Sequence=VSP_021137, VSP_021138;
CC Name=4;
CC IsoId=Q6ICL3-4; Sequence=VSP_055605;
CC Name=5;
CC IsoId=Q6ICL3-5; Sequence=VSP_055604;
CC Name=6;
CC IsoId=Q6ICL3-6; Sequence=VSP_055605, VSP_055606, VSP_055607;
CC -!- DISEASE: Metabolic crises, recurrent, with rhabdomyolysis, cardiac
CC arrhythmias, and neurodegeneration (MECRCN) [MIM:616878]: An autosomal
CC recessive disorder characterized by metabolic encephalomyopathic
CC crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis,
CC susceptibility to life-threatening cardiac tachyarrhythmias,
CC developmental delay, intellectual disability, and mild diffuse cerebral
CC atrophy. {ECO:0000269|PubMed:26805781, ECO:0000269|PubMed:26805782,
CC ECO:0000269|PubMed:30245509, ECO:0000269|PubMed:31276219,
CC ECO:0000269|PubMed:31339582, ECO:0000269|PubMed:32909282,
CC ECO:0000269|PubMed:32929747, ECO:0000269|PubMed:33342685}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the Tango2 family. {ECO:0000305}.
CC -!- CAUTION: Has been reported to be located in the Golgi apparatus
CC (PubMed:26805781). However, another study was unable to detect Golgi
CC localization (PubMed:32909282). Has also been reported to be located in
CC the mitochondrion (PubMed:32909282). However, no mitochondrial
CC localization was detected in another study which reported that the
CC protein is primarily cytoplasmic (PubMed:31276219).
CC {ECO:0000269|PubMed:26805781, ECO:0000269|PubMed:31276219,
CC ECO:0000269|PubMed:32909282}.
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DR EMBL; AK057461; BAB71498.1; -; mRNA.
DR EMBL; AK092484; BAC03902.1; -; mRNA.
DR EMBL; AK295210; BAH12013.1; -; mRNA.
DR EMBL; AK298593; BAH12819.1; -; mRNA.
DR EMBL; AK301366; BAH13466.1; -; mRNA.
DR EMBL; AK316056; BAH14427.1; -; mRNA.
DR EMBL; CR456355; CAG30241.1; -; mRNA.
DR EMBL; AC005663; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006547; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471176; EAX03001.1; -; Genomic_DNA.
DR EMBL; CH471176; EAX03003.1; -; Genomic_DNA.
DR EMBL; CH471176; EAX03005.1; -; Genomic_DNA.
DR EMBL; BC041339; AAH41339.1; -; mRNA.
DR EMBL; AL713640; CAD28454.1; -; mRNA.
DR CCDS; CCDS13772.1; -. [Q6ICL3-1]
DR CCDS; CCDS63404.1; -. [Q6ICL3-2]
DR CCDS; CCDS63405.1; -. [Q6ICL3-4]
DR CCDS; CCDS63406.1; -. [Q6ICL3-6]
DR CCDS; CCDS63407.1; -. [Q6ICL3-5]
DR RefSeq; NP_001270035.1; NM_001283106.2. [Q6ICL3-1]
DR RefSeq; NP_001270045.1; NM_001283116.2. [Q6ICL3-1]
DR RefSeq; NP_001270058.1; NM_001283129.2. [Q6ICL3-4]
DR RefSeq; NP_001270077.1; NM_001283148.2.
DR RefSeq; NP_001270083.1; NM_001283154.2.
DR RefSeq; NP_001270108.1; NM_001283179.2. [Q6ICL3-2]
DR RefSeq; NP_001270115.1; NM_001283186.2. [Q6ICL3-2]
DR RefSeq; NP_001270128.1; NM_001283199.2.
DR RefSeq; NP_001270144.1; NM_001283215.2. [Q6ICL3-6]
DR RefSeq; NP_001270164.1; NM_001283235.2. [Q6ICL3-5]
DR RefSeq; NP_001270177.1; NM_001283248.2.
DR RefSeq; NP_001309072.1; NM_001322143.1. [Q6ICL3-4]
DR RefSeq; NP_001309077.1; NM_001322148.1.
DR RefSeq; NP_001309092.1; NM_001322163.1. [Q6ICL3-2]
DR RefSeq; NP_001309095.1; NM_001322166.1. [Q6ICL3-2]
DR RefSeq; NP_001309096.1; NM_001322167.1. [Q6ICL3-2]
DR RefSeq; NP_001309100.1; NM_001322171.1. [Q6ICL3-5]
DR RefSeq; NP_001309101.1; NM_001322172.1. [Q6ICL3-5]
DR RefSeq; NP_001309102.1; NM_001322173.1. [Q6ICL3-5]
DR RefSeq; NP_001309103.1; NM_001322174.1. [Q6ICL3-5]
DR RefSeq; NP_001309104.1; NM_001322175.1. [Q6ICL3-5]
DR RefSeq; NP_690870.3; NM_152906.6. [Q6ICL3-1]
DR RefSeq; XP_011528169.1; XM_011529867.1. [Q6ICL3-5]
DR AlphaFoldDB; Q6ICL3; -.
DR BioGRID; 126178; 26.
DR IntAct; Q6ICL3; 2.
DR STRING; 9606.ENSP00000403645; -.
DR iPTMnet; Q6ICL3; -.
DR PhosphoSitePlus; Q6ICL3; -.
DR SwissPalm; Q6ICL3; -.
DR BioMuta; TANGO2; -.
DR DMDM; 74709518; -.
DR EPD; Q6ICL3; -.
DR jPOST; Q6ICL3; -.
DR MassIVE; Q6ICL3; -.
DR MaxQB; Q6ICL3; -.
DR PaxDb; Q6ICL3; -.
DR PeptideAtlas; Q6ICL3; -.
DR PRIDE; Q6ICL3; -.
DR ProteomicsDB; 6277; -.
DR ProteomicsDB; 66397; -. [Q6ICL3-1]
DR ProteomicsDB; 66398; -. [Q6ICL3-2]
DR ProteomicsDB; 66399; -. [Q6ICL3-3]
DR ProteomicsDB; 6827; -.
DR Antibodypedia; 313; 106 antibodies from 17 providers.
DR DNASU; 128989; -.
DR Ensembl; ENST00000327374.9; ENSP00000332721.4; ENSG00000183597.16. [Q6ICL3-1]
DR Ensembl; ENST00000398042.6; ENSP00000381122.2; ENSG00000183597.16. [Q6ICL3-2]
DR Ensembl; ENST00000401833.5; ENSP00000384827.1; ENSG00000183597.16. [Q6ICL3-4]
DR Ensembl; ENST00000401886.5; ENSP00000385662.1; ENSG00000183597.16. [Q6ICL3-2]
DR Ensembl; ENST00000432883.5; ENSP00000402926.2; ENSG00000183597.16. [Q6ICL3-5]
DR Ensembl; ENST00000434570.6; ENSP00000391262.2; ENSG00000183597.16. [Q6ICL3-6]
DR Ensembl; ENST00000456048.5; ENSP00000403645.2; ENSG00000183597.16. [Q6ICL3-4]
DR GeneID; 128989; -.
DR KEGG; hsa:128989; -.
DR MANE-Select; ENST00000327374.9; ENSP00000332721.4; NM_152906.7; NP_690870.3.
DR UCSC; uc002zrc.3; human. [Q6ICL3-1]
DR CTD; 128989; -.
DR DisGeNET; 128989; -.
DR GeneCards; TANGO2; -.
DR GeneReviews; TANGO2; -.
DR HGNC; HGNC:25439; TANGO2.
DR HPA; ENSG00000183597; Tissue enhanced (heart).
DR MalaCards; TANGO2; -.
DR MIM; 616830; gene.
DR MIM; 616878; phenotype.
DR neXtProt; NX_Q6ICL3; -.
DR OpenTargets; ENSG00000183597; -.
DR Orphanet; 480864; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome.
DR PharmGKB; PA143485406; -.
DR VEuPathDB; HostDB:ENSG00000183597; -.
DR eggNOG; KOG2342; Eukaryota.
DR GeneTree; ENSGT00390000012733; -.
DR HOGENOM; CLU_047037_3_1_1; -.
DR InParanoid; Q6ICL3; -.
DR OMA; TFTERNM; -.
DR PhylomeDB; Q6ICL3; -.
DR TreeFam; TF315064; -.
DR PathwayCommons; Q6ICL3; -.
DR SignaLink; Q6ICL3; -.
DR BioGRID-ORCS; 128989; 17 hits in 1075 CRISPR screens.
DR ChiTaRS; TANGO2; human.
DR GeneWiki; C22orf25; -.
DR GenomeRNAi; 128989; -.
DR Pharos; Q6ICL3; Tbio.
DR PRO; PR:Q6ICL3; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q6ICL3; protein.
DR Bgee; ENSG00000183597; Expressed in apex of heart and 147 other tissues.
DR ExpressionAtlas; Q6ICL3; baseline and differential.
DR Genevisible; Q6ICL3; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0007030; P:Golgi organization; IBA:GO_Central.
DR GO; GO:0009306; P:protein secretion; IBA:GO_Central.
DR InterPro; IPR008551; TANGO2.
DR PANTHER; PTHR17985; PTHR17985; 1.
DR Pfam; PF05742; TANGO2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Disease variant; Golgi apparatus;
KW Mitochondrion; Neurodegeneration; Reference proteome.
FT CHAIN 1..276
FT /note="Transport and Golgi organization protein 2 homolog"
FT /id="PRO_0000253891"
FT VAR_SEQ 1..126
FT /note="MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDM
FT EEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSM
FT EGHLYNGFNLIAADL -> MAGHQHTWQAGSTHQLPAAAAGLAGPRA (in isoform
FT 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055604"
FT VAR_SEQ 1..48
FT /note="MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILS ->
FT MPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADFWGNNNEILS (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021137"
FT VAR_SEQ 1..18
FT /note="MCIIFFKFDPRPVSKNAY -> MPPKLLCAGRCVGQDGAAQAWHCPPGQGHS
FT VWDAVRMPLGAGTPVNVQRREDSATEGSH (in isoform 4 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055605"
FT VAR_SEQ 90..151
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021139"
FT VAR_SEQ 151..157
FT /note="GTYGLSN -> EPTLSSW (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055606"
FT VAR_SEQ 158..276
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055607"
FT VAR_SEQ 190..197
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021138"
FT VARIANT 5
FT /note="Missing (in MECRCN; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31339582"
FT /id="VAR_085626"
FT VARIANT 6
FT /note="Missing (in MECRCN; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31339582"
FT /id="VAR_085627"
FT VARIANT 20
FT /note="L -> P (in MECRCN)"
FT /evidence="ECO:0000269|PubMed:32929747"
FT /id="VAR_085628"
FT VARIANT 20
FT /note="L -> R (in MECRCN; dbSNP:rs1191958022)"
FT /evidence="ECO:0000269|PubMed:31276219"
FT /id="VAR_085629"
FT VARIANT 26
FT /note="R -> K (in MECRCN; unknown pathological
FT significance; dbSNP:rs1057520382)"
FT /evidence="ECO:0000269|PubMed:30245509"
FT /id="VAR_085630"
FT VARIANT 32..276
FT /note="Missing (in MECRCN)"
FT /evidence="ECO:0000269|PubMed:30245509,
FT ECO:0000269|PubMed:32929747"
FT /id="VAR_085631"
FT VARIANT 74
FT /note="T -> P (in MECRCN; unknown pathological
FT significance; dbSNP:rs1235314092)"
FT /evidence="ECO:0000269|PubMed:31339582"
FT /id="VAR_085632"
FT VARIANT 86..276
FT /note="Missing (in MECRCN)"
FT /evidence="ECO:0000269|PubMed:32929747"
FT /id="VAR_085633"
FT VARIANT 88..276
FT /note="Missing (in MECRCN)"
FT /evidence="ECO:0000269|PubMed:31276219,
FT ECO:0000269|PubMed:31339582, ECO:0000269|PubMed:32909282,
FT ECO:0000269|PubMed:32929747"
FT /id="VAR_085634"
FT VARIANT 89
FT /note="G -> C (in MECRCN; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30245509"
FT /id="VAR_085635"
FT VARIANT 125
FT /note="D -> N (in dbSNP:rs17855650)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_028742"
FT VARIANT 140..256
FT /note="Missing (in MECRCN; delayed ER-to-Golgi transport;
FT altered mitochondrial morphology)"
FT /evidence="ECO:0000269|PubMed:26805782,
FT ECO:0000269|PubMed:32909282"
FT /id="VAR_085636"
FT VARIANT 154
FT /note="G -> R (in MECRCN; dbSNP:rs752298579)"
FT /evidence="ECO:0000269|PubMed:26805781"
FT /id="VAR_076912"
FT VARIANT 182..276
FT /note="Missing (in MECRCN)"
FT /evidence="ECO:0000269|PubMed:32929747"
FT /id="VAR_085637"
FT VARIANT 200
FT /note="E -> K (in dbSNP:rs17854107)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_028743"
FT VARIANT 233..276
FT /note="Missing (in MECRCN; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:33342685"
FT /id="VAR_085638"
FT VARIANT 236
FT /note="T -> I (in MECRCN; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32929747"
FT /id="VAR_085639"
FT VARIANT 245
FT /note="D -> E (in dbSNP:rs16982614)"
FT /id="VAR_028744"
FT MUTAGEN 1..40
FT /note="Missing: Abolishes mitochondrial localization."
FT /evidence="ECO:0000269|PubMed:32909282"
SQ SEQUENCE 276 AA; 30937 MW; 99D55353FD1B74E4 CRC64;
MCIIFFKFDP RPVSKNAYRL ILAANRDEFY SRPSKLADFW GNNNEILSGL DMEEGKEGGT
WLGISTRGKL AALTNYLQPQ LDWQARGRGE LVTHFLTTDV DSLSYLKKVS MEGHLYNGFN
LIAADLSTAK GDVICYYGNR GEPDPIVLTP GTYGLSNALL ETPWRKLCFG KQLFLEAVER
SQALPKDVLI ASLLDVLNNE EAQLPDPAIE DQGGEYVQPM LSKYAAVCVR CPGYGTRTNT
IILVDADGHV TFTERSMMDK DLSHWETRTY EFTLQS
