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 24-JAN-2024, entry version 136. 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, RC Synovium, 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 SUBCELLULAR LOCATION. RX PubMed=35197517; DOI=10.1038/s41598-022-07076-9; RA Heiman P., Mohsen A.W., Karunanidhi A., St Croix C., Watkins S., Koppes E., RA Haas R., Vockley J., Ghaloul-Gonzalez L.; RT "Mitochondrial dysfunction associated with TANGO2 deficiency."; RL Sci. Rep. 12:3045-3045(2022). RN [8] RP SUBCELLULAR LOCATION, AND FUNCTION. RX PubMed=36961129; DOI=10.7554/elife.85345; RA Lujan A.L., Foresti O., Sugden C., Brouwers N., Farre A.M., Vignoli A., RA Azamian M., Turner A., Wojnacki J., Malhotra V.; RT "Defects in lipid homeostasis reflect the function of TANGO2 in RT phospholipid and neutral lipid metabolism."; RL Elife 12:0-0(2023). RN [9] 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 [10] 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 [11] 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 [12] 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 [13] 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 [14] 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 [15] 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 [16] 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 [17] 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 -!- FUNCTION: May be involved in lipid homeostasis. CC {ECO:0000269|PubMed:36961129}. CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:31276219, CC ECO:0000269|PubMed:32909282, ECO:0000269|PubMed:36961129}. CC Mitochondrion {ECO:0000269|PubMed:32909282, CC ECO:0000269|PubMed:35197517, ECO:0000269|PubMed:36961129}. Golgi CC apparatus {ECO:0000269|PubMed:26805781}. Note=Localizes predominantly CC to mitochondrion. Deteted in close proximity to endoplasmic reticulum CC and lipid droplets. {ECO:0000269|PubMed:36961129}. 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: Previous published data showed conflicting results on the CC intracellular location of TANGO2. Has been reported to be located in CC the Golgi apparatus (PubMed:26805781). However, another study was CC unable to detect Golgi localization (PubMed:32909282). Has been CC reported to be located in the mitochondrion by several recent studies CC (PubMed:32909282, PubMed:36961129, PubMed:35197517). However, no CC mitochondrial localization was detected in a study which reported that CC the protein is primarily cytoplasmic (PubMed:31276219). CC {ECO:0000269|PubMed:26805781, ECO:0000269|PubMed:31276219, CC ECO:0000269|PubMed:32909282, ECO:0000269|PubMed:35197517, CC ECO:0000269|PubMed:36961129}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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. DR AlphaFoldDB; Q6ICL3; -. DR BioGRID; 126178; 28. 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; 9606-ENSP00000403645; -. DR PeptideAtlas; Q6ICL3; -. DR ProteomicsDB; 6277; -. DR ProteomicsDB; 66397; -. [Q6ICL3-1] DR ProteomicsDB; 66398; -. [Q6ICL3-2] DR ProteomicsDB; 66399; -. [Q6ICL3-3] DR ProteomicsDB; 6827; -. DR Pumba; Q6ICL3; -. DR Antibodypedia; 313; 122 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 AGR; HGNC:25439; -. 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; FAWRPGH; -. DR PhylomeDB; Q6ICL3; -. DR TreeFam; TF315064; -. DR PathwayCommons; Q6ICL3; -. DR SignaLink; Q6ICL3; -. DR BioGRID-ORCS; 128989; 17 hits in 1153 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 149 other cell types or tissues. DR ExpressionAtlas; Q6ICL3; baseline and differential. 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; SER/THR-RICH PROTEIN T10 IN DGCR REGION; 1. DR PANTHER; PTHR17985:SF8; TRANSPORT AND GOLGI ORGANIZATION PROTEIN 2 HOMOLOG; 1. DR Pfam; PF05742; TANGO2; 1. DR Genevisible; Q6ICL3; HS. 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; uncertain significance)" FT /evidence="ECO:0000269|PubMed:31339582" FT /id="VAR_085626" FT VARIANT 6 FT /note="Missing (in MECRCN; uncertain 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; uncertain significance; FT 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; uncertain significance; FT 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; uncertain significance; FT dbSNP:rs1313698326)" 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; uncertain significance)" FT /evidence="ECO:0000269|PubMed:33342685" FT /id="VAR_085638" FT VARIANT 236 FT /note="T -> I (in MECRCN; uncertain 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 //