ID S35A2_HUMAN Reviewed; 396 AA. AC P78381; A8K2L9; A8K9V1; B4DE11; B4DPT2; E7EW45; Q8IV21; Q92553; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 01-MAY-1997, sequence version 1. DT 27-MAR-2024, entry version 193. DE RecName: Full=UDP-galactose translocator {ECO:0000305|PubMed:8889805}; DE AltName: Full=Solute carrier family 35 member A2 {ECO:0000312|HGNC:HGNC:11022}; DE AltName: Full=UDP-galactose transporter; DE Short=UDP-Gal-Tr; DE Short=UGT; GN Name=SLC35A2 {ECO:0000312|HGNC:HGNC:11022}; Synonyms=UGALT, UGT, UGTL; 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 [MRNA] (ISOFORM 1). RX PubMed=8889805; DOI=10.1093/oxfordjournals.jbchem.a021404; RA Miura N., Ishida N., Hoshino M., Yamauchi M., Hara T., Ayusawa D., RA Kawakita M.; RT "Human UDP-galactose translocator: molecular cloning of a complementary DNA RT that complements the genetic defect of a mutant cell line deficient in UDP- RT galactose translocator."; RL J. Biochem. 120:236-241(1996). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, AND TRANSPORTER ACTIVITY. RC TISSUE=Fibroblast; RX PubMed=9010752; DOI=10.1093/oxfordjournals.jbchem.a021523; RA Ishida N., Miura N., Yoshioka S., Kawakita M.; RT "Molecular cloning and characterization of a novel isoform of the human RT UDP-galactose transporter, and of related complementary DNAs belonging to RT the nucleotide-sugar transporter gene family."; RL J. Biochem. 120:1074-1078(1996). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=8128316; DOI=10.1007/bf01233383; RA Hara T., Yamauchi M., Takahashi E., Hoshino M., Aoki K., Ayusawa D., RA Kawakita M.; RT "The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 RT containing the Wiskott-Aldrich syndrome locus."; RL Somat. Cell Mol. Genet. 19:571-575(1993). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Ishida N., Miura N., Yamauchi M., Kawakita M.; RT "Genomic organization of the human UDP-galactose transporter gene."; RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 5). RC TISSUE=Colon, Lymphoblast, and Trachea; 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 [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., RA Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [7] 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). RC TISSUE=Pancreas; 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 [9] RP FUNCTION, AND BIOPHYSICOCHEMICAL PROPERTIES. RX PubMed=11784306; DOI=10.1046/j.0014-2956.2001.02632.x; RA Segawa H., Kawakita M., Ishida N.; RT "Human and Drosophila UDP-galactose transporters transport UDP-N- RT acetylgalactosamine in addition to UDP-galactose."; RL Eur. J. Biochem. 269:128-138(2002). RN [10] RP FUNCTION, TRANSPORTER ACTIVITY, AND BIOPHYSICOCHEMICAL PROPERTIES. RX PubMed=12682060; DOI=10.1074/jbc.m302620200; RA Aoki K., Ishida N., Kawakita M.; RT "Substrate recognition by nucleotide sugar transporters: further RT characterization of substrate recognition regions by analyses of UDP- RT galactose/CMP-sialic acid transporter chimeras and biochemical analysis of RT the substrate specificity of parental and chimeric transporters."; RL J. Biol. Chem. 278:22887-22893(2003). RN [11] RP SUBCELLULAR LOCATION, AND MOTIF. RX PubMed=15932921; DOI=10.1093/glycob/cwi085; RA Kabuss R., Ashikov A., Oelmann S., Gerardy-Schahn R., Bakker H.; RT "Endoplasmic reticulum retention of the large splice variant of the UDP- RT galactose transporter is caused by a dilysine motif."; RL Glycobiology 15:905-911(2005). RN [12] RP INTERACTION WITH SLC35A3. RX PubMed=23089177; DOI=10.1016/j.febslet.2012.10.016; RA Maszczak-Seneczko D., Sosicka P., Majkowski M., Olczak T., Olczak M.; RT "UDP-N-acetylglucosamine transporter and UDP-galactose transporter form RT heterologous complexes in the Golgi membrane."; RL FEBS Lett. 586:4082-4087(2012). RN [13] RP INTERACTION WITH B4GALT4 (ISOFORM 2). RX PubMed=32827291; DOI=10.1007/s10719-020-09941-z; RA Shauchuk A., Szulc B., Maszczak-Seneczko D., Wiertelak W., Skurska E., RA Olczak M.; RT "N-glycosylation of the human beta1,4-galactosyltransferase 4 is crucial RT for its activity and Golgi localization."; RL Glycoconj. J. 37:577-588(2020). RN [14] RP INTERACTION WITH SLC35A3, IDENTIFICATION IN A COMPLEX WITH SLC35A3 AND RP SLC35A4, AND SUBCELLULAR LOCATION. RX PubMed=28167211; DOI=10.1016/j.bbamcr.2017.02.002; RA Sosicka P., Maszczak-Seneczko D., Bazan B., Shauchuk Y., Kaczmarek B., RA Olczak M.; RT "An insight into the orphan nucleotide sugar transporter SLC35A4."; RL Biochim. Biophys. Acta 1864:825-838(2017). RN [15] RP VARIANT [LARGE SCALE ANALYSIS] CYS-252. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). RN [16] RP VARIANT CDG2M ILE-331, CHARACTERIZATION OF VARIANT CDG2M ILE-331, AND RP FUNCTION. RX PubMed=23561849; DOI=10.1016/j.ajhg.2013.03.012; RG University of Washington Center for Mendelian Genomics; RA Ng B.G., Buckingham K.J., Raymond K., Kircher M., Turner E.H., He M., RA Smith J.D., Eroshkin A., Szybowska M., Losfeld M.E., Chong J.X., RA Kozenko M., Li C., Patterson M.C., Gilbert R.D., Nickerson D.A., RA Shendure J., Bamshad M.J., Freeze H.H.; RT "Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital RT disorder of glycosylation."; RL Am. J. Hum. Genet. 92:632-636(2013). RN [17] RP INVOLVEMENT IN CDG2M, VARIANT CDG2M PHE-213, CHARACTERIZATION OF VARIANT RP CDG2M PHE-213, AND SUBCELLULAR LOCATION. RX PubMed=24115232; DOI=10.1002/humu.22446; RA Kodera H., Nakamura K., Osaka H., Maegaki Y., Haginoya K., Mizumoto S., RA Kato M., Okamoto N., Iai M., Kondo Y., Nishiyama K., Tsurusaki Y., RA Nakashima M., Miyake N., Hayasaka K., Sugahara K., Yuasa I., Wada Y., RA Matsumoto N., Saitsu H.; RT "De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause RT early-onset epileptic encephalopathy."; RL Hum. Mutat. 34:1708-1714(2013). RN [18] RP VARIANT ARG-282. RX PubMed=25877686; DOI=10.1007/s00439-015-1553-6; RA Hino-Fukuyo N., Kikuchi A., Arai-Ichinoi N., Niihori T., Sato R., RA Suzuki T., Kudo H., Sato Y., Nakayama T., Kakisaka Y., Kubota Y., RA Kobayashi T., Funayama R., Nakayama K., Uematsu M., Aoki Y., Haginoya K., RA Kure S.; RT "Genomic analysis identifies candidate pathogenic variants in 9 of 18 RT patients with unexplained West syndrome."; RL Hum. Genet. 134:649-658(2015). RN [19] RP VARIANT CDG2M VAL-266, AND CHARACTERIZATION OF VARIANT CDG2M VAL-266. RX PubMed=25778940; DOI=10.1007/s10545-015-9828-6; RA Doerre K., Olczak M., Wada Y., Sosicka P., Grueneberg M., Reunert J., RA Kurlemann G., Fiedler B., Biskup S., Hoertnagel K., Rust S., Marquardt T.; RT "A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): RT molecular basis, clinical phenotype, and therapeutic approach."; RL J. Inherit. Metab. Dis. 38:931-940(2015). RN [20] RP VARIANT CYS-267. RX PubMed=26350515; DOI=10.1038/ejhg.2015.186; RA Bosch D.G., Boonstra F.N., de Leeuw N., Pfundt R., Nillesen W.M., RA de Ligt J., Gilissen C., Jhangiani S., Lupski J.R., Cremers F.P., RA de Vries B.B.; RT "Novel genetic causes for cerebral visual impairment."; RL Eur. J. Hum. Genet. 24:660-665(2016). RN [21] RP VARIANT MET-258. RX PubMed=26740508; DOI=10.1136/jmedgenet-2015-103568; RA Lopes F., Barbosa M., Ameur A., Soares G., de Sa J., Dias A.I., RA Oliveira G., Cabral P., Temudo T., Calado E., Cruz I.F., Vieira J.P., RA Oliveira R., Esteves S., Sauer S., Jonasson I., Syvaenen A.C., RA Gyllensten U., Pinto D., Maciel P.; RT "Identification of novel genetic causes of Rett syndrome-like phenotypes."; RL J. Med. Genet. 53:190-199(2016). RN [22] RP VARIANTS LEU-55 AND PRO-304. RX PubMed=29679388; DOI=10.1002/ana.25243; RA Winawer M.R., Griffin N.G., Samanamud J., Baugh E.H., Rathakrishnan D., RA Ramalingam S., Zagzag D., Schevon C.A., Dugan P., Hegde M., Sheth S.A., RA McKhann G.M., Doyle W.K., Grant G.A., Porter B.E., Mikati M.A., Muh C.R., RA Malone C.D., Bergin A.M.R., Peters J.M., McBrian D.K., Pack A.M., RA Akman C.I., LaCoursiere C.M., Keever K.M., Madsen J.R., Yang E., RA Lidov H.G.W., Shain C., Allen A.S., Canoll P.D., Crino P.B., Poduri A.H., RA Heinzen E.L.; RT "Somatic SLC35A2 variants in the brain are associated with intractable RT neocortical epilepsy."; RL Ann. Neurol. 83:1133-1146(2018). RN [23] RP CHARACTERIZATION OF VARIANTS LEU-55; MET-258; CYS-267; ARG-282 AND PRO-304, RP CHARACTERIZATION OF VARIANTS CDG2M PHE-213; VAL-266 AND ILE-331, RP MUTAGENESIS OF LYS-78; GLY-202; GLY-214 AND LYS-297, AND FUNCTION. RX PubMed=30834435; DOI=10.1093/glycob/cwz016; RA Li D., Mukhopadhyay S.; RT "Functional analyses of the UDP-galactose transporter SLC35A2 using the RT binding of bacterial Shiga toxins as a novel activity assay."; RL Glycobiology 29:490-503(2019). RN [24] RP VARIANTS CDG2M PRO-55; 56-TYR--SER-396 DEL; 65-PHE--THR-68 DEL; MET-71; RP PHE-82; PRO-101; PRO-116; ARG-118; CYS-130; 168-GLN--SER-396 DEL; LEU-175 RP DEL; PHE-175; 183-GLN--SER-396 DEL; SER-188; PRO-233; 272-TRP--SER-396 DEL; RP ASP-273; PRO-303; TYR-312; PRO-315 AND ILE-331, CHARACTERIZATION OF RP VARIANTS CDG2M MET-71; PHE-82; CYS-130; 168-GLN--SER-396 DEL; PRO-233 AND RP PRO-315, AND FUNCTION. RX PubMed=30817854; DOI=10.1002/humu.23731; RA Ng B.G., Sosicka P., Agadi S., Almannai M., Bacino C.A., Barone R., RA Botto L.D., Burton J.E., Carlston C., Chung B.H., Cohen J.S., Coman D., RA Dipple K.M., Dorrani N., Dobyns W.B., Elias A.F., Epstein L., Gahl W.A., RA Garozzo D., Hammer T.B., Haven J., Heron D., Herzog M., Hoganson G.E., RA Hunter J.M., Jain M., Juusola J., Lakhani S., Lee H., Lee J., Lewis K., RA Longo N., Lourenco C.M., Mak C.C.Y., McKnight D., Mendelsohn B.A., RA Mignot C., Mirzaa G., Mitchell W., Muhle H., Nelson S.F., Olczak M., RA Palmer C.G.S., Partikian A., Patterson M.C., Pierson T.M., Quinonez S.C., RA Regan B.M., Ross M.E., Guillen Sacoto M.J., Scaglia F., Scheffer I.E., RA Segal D., Singhal N.S., Striano P., Sturiale L., Symonds J.D., Tang S., RA Vilain E., Willis M., Wolfe L.A., Yang H., Yano S., Powis Z., Suchy S.F., RA Rosenfeld J.A., Edmondson A.C., Grunewald S., Freeze H.H.; RT "SLC35A2-CDG: Functional characterization, expanded molecular, clinical, RT and biochemical phenotypes of 30 unreported individuals."; RL Hum. Mutat. 40:908-925(2019). RN [25] RP MUTAGENESIS OF PHE-65; GLU-75; GLN-125; ASN-126; GLN-129; PHE-141; GLN-142; RP TYR-145; GLN-146; LYS-148; THR-152; SER-213; ASN-235; GLY-239; ASN-277; RP GLN-278; VAL-285; ASN-294; LYS-297; THR-301 AND SER-308, AND RP CHARACTERIZATION OF VARIANTS CDG2M MET-71; PHE-82; CYS-130; PHE-175; RP PRO-233; ASP-273 AND PRO-315. RX PubMed=34384782; DOI=10.1016/j.jbc.2021.101069; RA Li D., Mukhopadhyay S.; RT "A three-pocket model for substrate coordination and selectivity by the RT nucleotide sugar transporters SLC35A1 and SLC35A2."; RL J. Biol. Chem. 297:101069-101069(2021). CC -!- FUNCTION: Transports uridine diphosphate galactose (UDP-galactose) from CC the cytosol into the Golgi apparatus, functioning as an antiporter that CC exchanges UDP-galactose for UMP (PubMed:9010752, PubMed:12682060). It CC is also able to exchange UDP-galactose for AMP and CMP, and to CC transport UDP-N-acetylgalactosamine (UDP-GalNAc) and other nucleotide CC sugars (PubMed:12682060, PubMed:11784306). As a provider of UDP- CC galactose to galactosyltransferases present in the Golgi apparatus, it CC is necessary for globotriaosylceramide/globoside (Gb3Cer) synthesis CC from lactosylceramide (PubMed:30817854). {ECO:0000269|PubMed:11784306, CC ECO:0000269|PubMed:12682060, ECO:0000269|PubMed:23561849, CC ECO:0000269|PubMed:30817854, ECO:0000269|PubMed:30834435, CC ECO:0000269|PubMed:9010752}. CC -!- CATALYTIC ACTIVITY: CC Reaction=UDP-alpha-D-galactose(in) + UMP(out) = UDP-alpha-D- CC galactose(out) + UMP(in); Xref=Rhea:RHEA:72703, ChEBI:CHEBI:57865, CC ChEBI:CHEBI:66914; Evidence={ECO:0000269|PubMed:12682060, CC ECO:0000269|PubMed:9010752}; CC -!- CATALYTIC ACTIVITY: CC Reaction=UDP-N-acetyl-alpha-D-galactosamine(in) + UMP(out) = UDP-N- CC acetyl-alpha-D-galactosamine(out) + UMP(in); Xref=Rhea:RHEA:72735, CC ChEBI:CHEBI:57865, ChEBI:CHEBI:67138; CC Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=UDP-alpha-D-glucose(in) + UMP(out) = UDP-alpha-D-glucose(out) CC + UMP(in); Xref=Rhea:RHEA:72731, ChEBI:CHEBI:57865, CC ChEBI:CHEBI:58885; Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=UDP-N-acetyl-alpha-D-glucosamine(in) + UMP(out) = UDP-N- CC acetyl-alpha-D-glucosamine(out) + UMP(in); Xref=Rhea:RHEA:72695, CC ChEBI:CHEBI:57705, ChEBI:CHEBI:57865; CC Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=AMP(out) + UDP-alpha-D-galactose(in) = AMP(in) + UDP-alpha-D- CC galactose(out); Xref=Rhea:RHEA:74599, ChEBI:CHEBI:66914, CC ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=CMP(out) + UDP-alpha-D-galactose(in) = CMP(in) + UDP-alpha-D- CC galactose(out); Xref=Rhea:RHEA:74603, ChEBI:CHEBI:60377, CC ChEBI:CHEBI:66914; Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=UDP-alpha-D-galactose(in) + UDP-N-acetyl-alpha-D- CC galactosamine(out) = UDP-alpha-D-galactose(out) + UDP-N-acetyl-alpha- CC D-galactosamine(in); Xref=Rhea:RHEA:74607, ChEBI:CHEBI:66914, CC ChEBI:CHEBI:67138; Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=UDP-alpha-D-galactose(in) + UDP-N-acetyl-alpha-D- CC glucosamine(out) = UDP-alpha-D-galactose(out) + UDP-N-acetyl-alpha-D- CC glucosamine(in); Xref=Rhea:RHEA:74611, ChEBI:CHEBI:57705, CC ChEBI:CHEBI:66914; Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=UDP-alpha-D-galactose(in) + UDP-alpha-D-glucose(out) = UDP- CC alpha-D-galactose(out) + UDP-alpha-D-glucose(in); CC Xref=Rhea:RHEA:74615, ChEBI:CHEBI:58885, ChEBI:CHEBI:66914; CC Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=CMP(in) + UMP(out) = CMP(out) + UMP(in); Xref=Rhea:RHEA:74619, CC ChEBI:CHEBI:57865, ChEBI:CHEBI:60377; CC Evidence={ECO:0000269|PubMed:12682060}; CC -!- CATALYTIC ACTIVITY: CC Reaction=AMP(in) + UMP(out) = AMP(out) + UMP(in); Xref=Rhea:RHEA:74623, CC ChEBI:CHEBI:57865, ChEBI:CHEBI:456215; CC Evidence={ECO:0000269|PubMed:12682060}; CC -!- BIOPHYSICOCHEMICAL PROPERTIES: CC Kinetic parameters: CC KM=5.5 uM for UDP-alpha-D-galactose {ECO:0000269|PubMed:12682060}; CC KM=2.5 uM for UDP-alpha-D-galactose {ECO:0000269|PubMed:11784306}; CC KM=2.5 uM for UDP-N-acetyl-alpha-D-galactosamine CC {ECO:0000269|PubMed:11784306}; CC -!- SUBUNIT: Interacts with SLC35A3; the interaction is reduced in the CC presence of SLC35A4 (PubMed:23089177, PubMed:28167211). Found in a CC complex with SLC35A3 and SLC35A4 (PubMed:28167211). CC {ECO:0000269|PubMed:23089177, ECO:0000269|PubMed:28167211}. CC -!- SUBUNIT: [Isoform 2]: Interacts with B4GALT4. CC {ECO:0000269|PubMed:32827291}. CC -!- INTERACTION: CC P78381-1; Q9Y2D2: SLC35A3; NbExp=3; IntAct=EBI-8101118, EBI-3917581; CC P78381-3; P27658: COL8A1; NbExp=3; IntAct=EBI-13307533, EBI-747133; CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane CC {ECO:0000269|PubMed:15932921}. Golgi apparatus membrane CC {ECO:0000269|PubMed:15932921, ECO:0000269|PubMed:24115232, CC ECO:0000269|PubMed:28167211}; Multi-pass membrane protein CC {ECO:0000255}. CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Golgi apparatus membrane CC {ECO:0000269|PubMed:15932921}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=5; CC Name=1; Synonyms=UGT2; CC IsoId=P78381-1; Sequence=Displayed; CC Name=2; Synonyms=UGT1; CC IsoId=P78381-2; Sequence=VSP_003728; CC Name=3; CC IsoId=P78381-3; Sequence=VSP_042029; CC Name=4; CC IsoId=P78381-4; Sequence=VSP_054335, VSP_003728; CC Name=5; CC IsoId=P78381-5; Sequence=VSP_055197, VSP_003728; CC -!- DISEASE: Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896]: CC An X-linked dominant, severe neurologic disorder characterized by CC developmental delay, hypotonia, ocular anomalies, and brain CC malformations. Othere more variable clinical features included CC seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent CC infections, dysmorphic features, shortened limbs, and coagulation CC defects. Congenital disorders of glycosylation are caused by a defect CC in glycoprotein biosynthesis and characterized by under-glycosylated CC serum glycoproteins and a wide variety of clinical features. The broad CC spectrum of features reflects the critical role of N-glycoproteins CC during embryonic development, differentiation, and maintenance of cell CC functions. {ECO:0000269|PubMed:23561849, ECO:0000269|PubMed:24115232, CC ECO:0000269|PubMed:25778940, ECO:0000269|PubMed:30817854, CC ECO:0000269|PubMed:30834435, ECO:0000269|PubMed:34384782}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- SIMILARITY: Belongs to the nucleotide-sugar transporter family. SLC35A CC subfamily. {ECO:0000305}. 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; D88146; BAA13545.1; -; mRNA. DR EMBL; D84454; BAA12673.1; -; mRNA. DR EMBL; AB042425; BAA95614.1; -; Genomic_DNA. DR EMBL; AB042425; BAA95615.1; -; Genomic_DNA. DR EMBL; AK290284; BAF82973.1; -; mRNA. DR EMBL; AK292816; BAF85505.1; -; mRNA. DR EMBL; AK293415; BAG56922.1; -; mRNA. DR EMBL; AK298484; BAG60694.1; -; mRNA. DR EMBL; AF207550; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471224; EAW50733.1; -; Genomic_DNA. DR EMBL; CH471224; EAW50734.1; -; Genomic_DNA. DR EMBL; BC035747; AAH35747.1; -; mRNA. DR CCDS; CCDS14311.1; -. [P78381-1] DR CCDS; CCDS35247.1; -. [P78381-3] DR CCDS; CCDS43937.1; -. [P78381-2] DR CCDS; CCDS65253.1; -. [P78381-5] DR CCDS; CCDS65254.1; -. [P78381-4] DR PIR; JC5022; JC5022. DR RefSeq; NP_001027460.1; NM_001032289.2. [P78381-3] DR RefSeq; NP_001035963.1; NM_001042498.2. [P78381-2] DR RefSeq; NP_001269576.1; NM_001282647.1. DR RefSeq; NP_001269577.1; NM_001282648.1. DR RefSeq; NP_001269578.1; NM_001282649.1. [P78381-5] DR RefSeq; NP_001269579.1; NM_001282650.1. DR RefSeq; NP_001269580.1; NM_001282651.1. [P78381-4] DR RefSeq; NP_005651.1; NM_005660.2. [P78381-1] DR AlphaFoldDB; P78381; -. DR SMR; P78381; -. DR BioGRID; 113202; 63. DR CORUM; P78381; -. DR ELM; P78381; -. DR IntAct; P78381; 9. DR MINT; P78381; -. DR STRING; 9606.ENSP00000416002; -. DR ChEMBL; CHEMBL3430867; -. DR TCDB; 2.A.7.12.6; the drug/metabolite transporter (dmt) superfamily. DR iPTMnet; P78381; -. DR PhosphoSitePlus; P78381; -. DR SwissPalm; P78381; -. DR BioMuta; SLC35A2; -. DR DMDM; 2499228; -. DR EPD; P78381; -. DR jPOST; P78381; -. DR MassIVE; P78381; -. DR MaxQB; P78381; -. DR PaxDb; 9606-ENSP00000416002; -. DR PeptideAtlas; P78381; -. DR ProteomicsDB; 18770; -. DR ProteomicsDB; 3913; -. DR ProteomicsDB; 57603; -. [P78381-1] DR ProteomicsDB; 57604; -. [P78381-2] DR ProteomicsDB; 57605; -. [P78381-3] DR Pumba; P78381; -. DR Antibodypedia; 25927; 73 antibodies from 17 providers. DR DNASU; 7355; -. DR Ensembl; ENST00000247138.11; ENSP00000247138.5; ENSG00000102100.16. [P78381-1] DR Ensembl; ENST00000376521.6; ENSP00000365704.1; ENSG00000102100.16. [P78381-2] DR Ensembl; ENST00000445167.7; ENSP00000402726.2; ENSG00000102100.16. [P78381-3] DR Ensembl; ENST00000452555.7; ENSP00000416002.2; ENSG00000102100.16. [P78381-4] DR Ensembl; ENST00000635285.1; ENSP00000489484.1; ENSG00000102100.16. [P78381-2] DR Ensembl; ENST00000635589.1; ENSP00000489197.1; ENSG00000102100.16. [P78381-5] DR Ensembl; ENST00000710051.1; ENSP00000518018.1; ENSG00000292209.1. [P78381-2] DR Ensembl; ENST00000710052.1; ENSP00000518019.1; ENSG00000292209.1. [P78381-1] DR Ensembl; ENST00000710056.1; ENSP00000518023.1; ENSG00000292209.1. [P78381-2] DR Ensembl; ENST00000710057.1; ENSP00000518024.1; ENSG00000292209.1. [P78381-3] DR Ensembl; ENST00000710060.1; ENSP00000518027.1; ENSG00000292209.1. [P78381-5] DR Ensembl; ENST00000710062.1; ENSP00000518029.1; ENSG00000292209.1. [P78381-4] DR GeneID; 7355; -. DR KEGG; hsa:7355; -. DR MANE-Select; ENST00000247138.11; ENSP00000247138.5; NM_005660.3; NP_005651.1. DR UCSC; uc004dlo.3; human. [P78381-1] DR AGR; HGNC:11022; -. DR CTD; 7355; -. DR DisGeNET; 7355; -. DR GeneCards; SLC35A2; -. DR HGNC; HGNC:11022; SLC35A2. DR HPA; ENSG00000102100; Low tissue specificity. DR MalaCards; SLC35A2; -. DR MIM; 300896; phenotype. DR MIM; 314375; gene. DR neXtProt; NX_P78381; -. DR OpenTargets; ENSG00000102100; -. DR Orphanet; 268973; Isolated focal cortical dysplasia type Ia. DR Orphanet; 356961; SLC35A2-CDG. DR PharmGKB; PA35890; -. DR VEuPathDB; HostDB:ENSG00000102100; -. DR eggNOG; KOG2234; Eukaryota. DR GeneTree; ENSGT00950000182827; -. DR HOGENOM; CLU_024645_1_1_1; -. DR InParanoid; P78381; -. DR OMA; VFVWYLV; -. DR OrthoDB; 200085at2759; -. DR PhylomeDB; P78381; -. DR TreeFam; TF315345; -. DR PathwayCommons; P78381; -. DR Reactome; R-HSA-5619072; Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M). DR Reactome; R-HSA-727802; Transport of nucleotide sugars. DR SignaLink; P78381; -. DR SIGNOR; P78381; -. DR BioGRID-ORCS; 7355; 74 hits in 804 CRISPR screens. DR ChiTaRS; SLC35A2; human. DR GeneWiki; SLC35A2; -. DR GenomeRNAi; 7355; -. DR Pharos; P78381; Tbio. DR PRO; PR:P78381; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; P78381; Protein. DR Bgee; ENSG00000102100; Expressed in secondary oocyte and 190 other cell types or tissues. DR ExpressionAtlas; P78381; baseline and differential. DR GO; GO:0005783; C:endoplasmic reticulum; IDA:CACAO. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA. DR GO; GO:0000139; C:Golgi membrane; IDA:UniProtKB. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0015297; F:antiporter activity; IEA:UniProtKB-KW. DR GO; GO:0005459; F:UDP-galactose transmembrane transporter activity; IBA:GO_Central. DR GO; GO:0008643; P:carbohydrate transport; IEA:UniProtKB-KW. DR GO; GO:0006012; P:galactose metabolic process; TAS:ProtInc. DR GO; GO:0072334; P:UDP-galactose transmembrane transport; IMP:UniProtKB. DR InterPro; IPR007271; Nuc_sug_transpt. DR NCBIfam; TIGR00803; nst; 1. DR PANTHER; PTHR10231; NUCLEOTIDE-SUGAR TRANSMEMBRANE TRANSPORTER; 1. DR PANTHER; PTHR10231:SF43; UDP-GALACTOSE TRANSLOCATOR; 1. DR Pfam; PF04142; Nuc_sug_transp; 1. DR PIRSF; PIRSF005799; UDP-gal_transpt; 1. DR SUPFAM; SSF103481; Multidrug resistance efflux transporter EmrE; 1. DR Genevisible; P78381; HS. PE 1: Evidence at protein level; KW Alternative splicing; Antiport; Congenital disorder of glycosylation; KW Disease variant; Endoplasmic reticulum; Epilepsy; Golgi apparatus; KW Membrane; Reference proteome; Sugar transport; Transmembrane; KW Transmembrane helix; Transport. FT CHAIN 1..396 FT /note="UDP-galactose translocator" FT /id="PRO_0000213353" FT TRANSMEM 3..23 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 37..57 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 65..85 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 97..117 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 140..160 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 169..189 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 200..220 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 238..258 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 269..289 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 315..335 FT /note="Helical" FT /evidence="ECO:0000255" FT REGION 358..379 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOTIF 392..396 FT /note="ER retention motif" FT /evidence="ECO:0000269|PubMed:15932921" FT VAR_SEQ 30 FT /note="A -> AELLLTWEEAEARGQGLPQPLPDTSVRIP (in isoform 4)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_054335" FT VAR_SEQ 31..91 FT /note="Missing (in isoform 5)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_055197" FT VAR_SEQ 143..396 FT /note="VTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRP FT LDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWA FT EGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVAS FT IRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPP FT QLSSHRGDLITEPFLPKLLTKVKGS -> PSPRCSQSHSLCLCLRLRALRSPAASRAAT FT TTAAVFPPWRPHHGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSS FT GFGRWSFLPGH (in isoform 3)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334" FT /id="VSP_042029" FT VAR_SEQ 389..396 FT /note="LLTKVKGS -> SVLVK (in isoform 2, isoform 4 and FT isoform 5)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:9010752" FT /id="VSP_003728" FT VARIANT 55 FT /note="R -> L (found in a patient with infantile spasms and FT cortical abnormalities; uncertain significance; somatic FT mutation; able to rescue defective Gb3Cer expression in FT SLC35A2-deficient cells)" FT /evidence="ECO:0000269|PubMed:29679388, FT ECO:0000269|PubMed:30834435" FT /id="VAR_086839" FT VARIANT 55 FT /note="R -> P (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087467" FT VARIANT 56..396 FT /note="Missing (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087468" FT VARIANT 65..68 FT /note="Missing (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087469" FT VARIANT 71 FT /note="V -> M (in CDG2M; reduced UDP-galactose transport in FT patient fibroblasts; no effect on localization to Golgi FT apparatus)" FT /evidence="ECO:0000269|PubMed:30817854, FT ECO:0000269|PubMed:34384782" FT /id="VAR_087470" FT VARIANT 82 FT /note="C -> F (in CDG2M; reduced UDP-galactose transport in FT patient fibroblasts; no effect on localization to Golgi FT apparatus; dbSNP:rs1557043622)" FT /evidence="ECO:0000269|PubMed:30817854, FT ECO:0000269|PubMed:34384782" FT /id="VAR_087471" FT VARIANT 101 FT /note="L -> P (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087472" FT VARIANT 116 FT /note="A -> P (in CDG2M; dbSNP:rs1557043133)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087473" FT VARIANT 118 FT /note="P -> R (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087474" FT VARIANT 130 FT /note="Y -> C (in CDG2M; loss of UDP-galactose transport in FT patient fibroblasts; no effect on localization to Golgi FT apparatus)" FT /evidence="ECO:0000269|PubMed:30817854, FT ECO:0000269|PubMed:34384782" FT /id="VAR_087475" FT VARIANT 168..396 FT /note="Missing (in CDG2M; reduced UDP-galactose transport FT in patient fibroblasts)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087476" FT VARIANT 175 FT /note="L -> F (in CDG2M; no effect on localization to Golgi FT apparatus; dbSNP:rs1283637638)" FT /evidence="ECO:0000269|PubMed:30817854, FT ECO:0000269|PubMed:34384782" FT /id="VAR_087477" FT VARIANT 175 FT /note="Missing (in CDG2M; dbSNP:rs1602338996)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087478" FT VARIANT 183..396 FT /note="Missing (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087479" FT VARIANT 188 FT /note="G -> S (in CDG2M; uncertain significance; FT dbSNP:rs1023107993)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087480" FT VARIANT 213 FT /note="S -> F (in CDG2M; has no effect on localization to FT Golgi; partially rescues defective Gb3Cer expression in FT SLC35A2-deficient cells; dbSNP:rs587777436)" FT /evidence="ECO:0000269|PubMed:24115232, FT ECO:0000269|PubMed:30834435" FT /id="VAR_071699" FT VARIANT 233 FT /note="L -> P (in CDG2M; reduced UDP-galactose transport in FT patient fibroblasts; no effect on localization to Golgi FT apparatus)" FT /evidence="ECO:0000269|PubMed:30817854, FT ECO:0000269|PubMed:34384782" FT /id="VAR_087481" FT VARIANT 252 FT /note="W -> C (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036579" FT VARIANT 258 FT /note="V -> M (found in a patient with Rett syndrome-like FT phenotype; uncertain significance; able to rescue defective FT Gb3Cer expression in SLC35A2-deficient cells; FT dbSNP:rs1557042828)" FT /evidence="ECO:0000269|PubMed:26740508, FT ECO:0000269|PubMed:30834435" FT /id="VAR_079035" FT VARIANT 266 FT /note="G -> V (in CDG2M; fails to rescue defective FT galactosylation in SLC35A2-deficient cells; able to rescue FT defective Gb3Cer expression in SLC35A2-deficient cells)" FT /evidence="ECO:0000269|PubMed:25778940, FT ECO:0000269|PubMed:30834435" FT /id="VAR_086840" FT VARIANT 267 FT /note="Y -> C (found in a patient with cerebral visual FT impairment; uncertain significance; able to rescue FT defective Gb3Cer expression in SLC35A2-deficient cells; FT dbSNP:rs869312860)" FT /evidence="ECO:0000269|PubMed:26350515, FT ECO:0000269|PubMed:30834435" FT /id="VAR_086841" FT VARIANT 272..396 FT /note="Missing (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087482" FT VARIANT 273 FT /note="G -> D (in CDG2M; no effect on localization to Golgi FT apparatus; dbSNP:rs1557042798)" FT /evidence="ECO:0000269|PubMed:30817854, FT ECO:0000269|PubMed:34384782" FT /id="VAR_087483" FT VARIANT 282 FT /note="G -> R (found in a patient with West syndrome; FT uncertain significance; does not rescue defective Gb3Cer FT expression in SLC35A2-deficient cells; dbSNP:rs2063478987)" FT /evidence="ECO:0000269|PubMed:25877686, FT ECO:0000269|PubMed:30834435" FT /id="VAR_086842" FT VARIANT 303 FT /note="L -> P (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087484" FT VARIANT 304 FT /note="S -> P (found in a patient with non-lesional focal FT epilepsy; uncertain significance; somatic mutation; able to FT rescue defective Gb3Cer expression in SLC35A2-deficient FT cells)" FT /evidence="ECO:0000269|PubMed:29679388, FT ECO:0000269|PubMed:30834435" FT /id="VAR_086843" FT VARIANT 312 FT /note="S -> Y (in CDG2M)" FT /evidence="ECO:0000269|PubMed:30817854" FT /id="VAR_087485" FT VARIANT 315 FT /note="L -> P (in CDG2M; reduced UDP-galactose transport in FT patient fibroblasts; no effect on localization to Golgi FT apparatus; dbSNP:rs1131691973)" FT /evidence="ECO:0000269|PubMed:30817854, FT ECO:0000269|PubMed:34384782" FT /id="VAR_087486" FT VARIANT 331 FT /note="V -> I (in CDG2M; in patient fibroblasts, results in FT reduced UDP-galactose transport into the Golgi; able to FT rescue defective Gb3Cer expression in SLC35A2-deficient FT cells; dbSNP:rs587776961)" FT /evidence="ECO:0000269|PubMed:23561849, FT ECO:0000269|PubMed:30817854, ECO:0000269|PubMed:30834435" FT /id="VAR_069773" FT MUTAGEN 65 FT /note="F->L: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 75 FT /note="E->A: Partially rescues defective Gb3Cer expression FT in SLC35A2-deficient cells suggesting reduced UDP-galactose FT transport. No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 78 FT /note="K->A: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport." FT /evidence="ECO:0000269|PubMed:30834435" FT MUTAGEN 125 FT /note="Q->A: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport; when associated with A-126, A-129 and A-278. No FT effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 126 FT /note="N->A: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport; when associated with A-125, A-129 and A-278. No FT effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 129 FT /note="Q->A: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport; when associated with A-125, A-126 and A-278. No FT effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 141 FT /note="F->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 142 FT /note="Q->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 145 FT /note="Y->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 146 FT /note="Q->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 148 FT /note="K->A: Partially rescues defective Gb3Cer expression FT in SLC35A2-deficient cells suggesting reduced UDP-galactose FT transport. No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 152 FT /note="T->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 152 FT /note="T->F: Partially rescues defective Gb3Cer expression FT in SLC35A2-deficient cells suggesting reduced UDP-galactose FT transport. No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 202 FT /note="G->I: Partially rescues defective Gb3Cer expression FT in SLC35A2-deficient cells suggesting reduced UDP-galactose FT transport." FT /evidence="ECO:0000269|PubMed:30834435" FT MUTAGEN 213 FT /note="S->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 214 FT /note="G->I: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport." FT /evidence="ECO:0000269|PubMed:30834435" FT MUTAGEN 235 FT /note="N->A,Q: No effect on localization to Golgi FT apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 239 FT /note="G->Y: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 277 FT /note="N->K: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 278 FT /note="Q->A: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport; when associated with A-125, A-126 and A-129. No FT effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 285 FT /note="V->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 294 FT /note="N->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 297 FT /note="K->A: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport." FT /evidence="ECO:0000269|PubMed:30834435" FT MUTAGEN 297 FT /note="K->E: Does not rescue defective Gb3Cer expression in FT SLC35A2-deficient cells suggesting loss of UDP-galactose FT transport. No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 301 FT /note="T->A: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT MUTAGEN 308 FT /note="S->F: No effect on localization to Golgi apparatus." FT /evidence="ECO:0000269|PubMed:34384782" FT CONFLICT 85 FT /note="L -> P (in Ref. 5; BAF82973)" FT /evidence="ECO:0000305" FT CONFLICT 110 FT /note="V -> A (in Ref. 5; BAG60694)" FT /evidence="ECO:0000305" SQ SEQUENCE 396 AA; 41307 MW; 6EC1DC9532FE9221 CRC64; MAAVGAGGST AAPGPGAVSA GALEPGTASA AHRRLKYISL AVLVVQNASL ILSIRYARTL PGDRFFATTA VVMAEVLKGL TCLLLLFAQK RGNVKHLVLF LHEAVLVQYV DTLKLAVPSL IYTLQNNLQY VAISNLPAAT FQVTYQLKIL TTALFSVLML NRSLSRLQWA SLLLLFTGVA IVQAQQAGGG GPRPLDQNPG AGLAAVVASC LSSGFAGVYF EKILKGSSGS VWLRNLQLGL FGTALGLVGL WWAEGTAVAT RGFFFGYTPA VWGVVLNQAF GGLLVAVVVK YADNILKGFA TSLSIVLSTV ASIRLFGFHV DPLFALGAGL VIGAVYLYSL PRGAAKAIAS ASASASGPCV HQQPPGQPPP PQLSSHRGDL ITEPFLPKLL TKVKGS //