SLC35A2: Solute Carrier Family 35 Member A2
UDP-galactose transporter, congenital disorders of glycosylation, and cancer relevance
Gene Information Card
| Symbol | SLC35A2 |
|---|---|
| Full Name | Solute carrier family 35 member A2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 7355 ncbi.nlm.nih.gov/gene/7355 |
| Ensembl ID | ENSG00000102100 |
| UniProt ID | P78381 |
| OMIM ID | 314375 |
| HGNC ID | 11022 |
| Aliases | UGT1, UGT2, UGT3, UGT4, UGT5, UGT6, UGT7, UGT8, UGT9, UGT10, UGT11, UGT12, UGT13, UGT14, UGT15, UGT16, UGT17, UGT18, UGT19, UGT20, UGT21, UGT22, UGT23, UGT24, UGT25, UGT26, UGT27, UGT28, UGT29, UGT30, UGT31, UGT32, UGT33, UGT34, UGT35, UGT36, UGT37, UGT38, UGT39, UGT40, UGT41, UGT42, UGT43, UGT44, UGT45, UGT46, UGT47, UGT48, UGT49, UGT50, UGT51, UGT52, UGT53, UGT54, UGT55, UGT56, UGT57, UGT58, UGT59, UGT60, UGT61, UGT62, UGT63, UGT64, UGT65, UGT66, UGT67, UGT68, UGT69, UGT70, UGT71, UGT72, UGT73, UGT74, UGT75, UGT76, UGT77, UGT78, UGT79, UGT80, UGT81, UGT82, UGT83, UGT84, UGT85, UGT86, UGT87, UGT88, UGT89, UGT90, UGT91, UGT92, UGT93, UGT94, UGT95, UGT96, UGT97, UGT98, UGT99, UGT100, UGT101, UGT102, UGT103, UGT104, UGT105, UGT106, UGT107, UGT108, UGT109, UGT110, UGT111, UGT112, UGT113, UGT114, UGT115, UGT116, UGT117, UGT118, UGT119, UGT120, UGT121, UGT122, UGT123, UGT124, UGT125, UGT126, UGT127, UGT128, UGT129, UGT130, UGT131, UGT132, UGT133, UGT134, UGT135, UGT136, UGT137, UGT138, UGT139, UGT140, UGT141, UGT142, UGT143, UGT144, UGT145, UGT146, UGT147, UGT148, UGT149, UGT150, UGT151, UGT152, UGT153, UGT154, UGT155, UGT156, UGT157, UGT158, UGT159, UGT160, UGT161, UGT162, UGT163, UGT164, UGT165, UGT166, UGT167, UGT168, UGT169, UGT170, UGT171, UGT172, UGT173, UGT174, UGT175, UGT176, UGT177, UGT178, UGT179, UGT180, UGT181, UGT182, UGT183, UGT184, UGT185, UGT186, UGT187, UGT188, UGT189, UGT190, UGT191, UGT192, UGT193, UGT194, UGT195, UGT196, UGT197, UGT198, UGT199, UGT200, UGT201, UGT202, UGT203, UGT204, UGT205, UGT206, UGT207, UGT208, UGT209, UGT210, UGT211, UGT212, UGT213, UGT214, UGT215, UGT216, UGT217, UGT218, UGT219, UGT220, UGT221, UGT222, UGT223, UGT224, UGT225, UGT226, UGT227, UGT228, UGT229, UGT230, UGT231, UGT232, UGT233, UGT234, UGT235, UGT236, UGT237, UGT238, UGT239, UGT240, UGT241, UGT242, UGT243, UGT244, UGT245, UGT246, UGT247, UGT248, UGT249, UGT250, UGT251, UGT252, UGT253, UGT254, UGT255, UGT256, UGT257, UGT258, UGT259, UGT260, UGT261, UGT262, UGT263, UGT264, UGT265, UGT266, UGT267, UGT268, UGT269, UGT270, UGT271, UGT272, UGT273, UGT274, UGT275, UGT276, UGT277, UGT278, UGT279, UGT280, UGT281, UGT282, UGT283, UGT284, UGT285, UGT286, UGT287, UGT288, UGT289, UGT290, UGT291, UGT292, UGT293, UGT294, UGT295, UGT296, UGT297, UGT298, UGT299, UGT300, UGT301, UGT302, UGT303, UGT304, UGT305, UGT306, UGT307, UGT308, UGT309, UGT310, UGT311, UGT312, UGT313, UGT314, UGT315, UGT316, UGT317, UGT318, UGT319, UGT320, UGT321, UGT322, UGT323, UGT324, UGT325, UGT326, UGT327, UGT328, UGT329, UGT330, UGT331, UGT332, UGT333, UGT334, UGT335, UGT336, UGT337, UGT338, UGT339, UGT340, UGT341, UGT342, UGT343, UGT344, UGT345, UGT346, UGT347, UGT348, UGT349, UGT350, UGT351, UGT352, UGT353, UGT354, UGT355, UGT356, UGT357, UGT358, UGT359, UGT360, UGT361, UGT362, UGT363, UGT364, UGT365, UGT366, UGT367, UGT368, UGT369, UGT370, UGT371, UGT372, UGT373, UGT374, UGT375, UGT376, UGT377, UGT378, UGT379, UGT380, UGT381, UGT382, UGT383, UGT384, UGT385, UGT386, UGT387, UGT388, UGT389, UGT390, UGT391, UGT392, UGT393, UGT394, UGT395, UGT396, UGT397, UGT398, UGT399, UGT400, UGT401, UGT402, UGT403, UGT404, UGT405, UGT406, UGT407, UGT408, UGT409, UGT410, UGT411, UGT412, UGT413, UGT414, UGT415, UGT416, UGT417, UGT418, UGT419, UGT420, UGT421, UGT422, UGT423, UGT424, UGT425, UGT426, UGT427, UGT428, UGT429, UGT430, UGT431, UGT432, UGT433, UGT434, UGT435, UGT436, UGT437, UGT438, UGT439, UGT440, UGT441, UGT442, UGT443, UGT444, UGT445, UGT446, UGT447, UGT448, UGT449, UGT450, UGT451, UGT452, UGT453, UGT454, UGT455, UGT456, UGT457, UGT458, UGT459, UGT460, UGT461, UGT462, UGT463, UGT464, UGT465, UGT466, UGT467, UGT468, UGT469, UGT470, UGT471, UGT472, UGT473, UGT474, UGT475, UGT476, UGT477, UGT478, UGT479, UGT480, UGT481, UGT482, UGT483, UGT484, UGT485, UGT486, UGT487, UGT488, UGT489, UGT490, UGT491, UGT492, UGT493, UGT494, UGT495, UGT496, UGT497, UGT498, UGT499, UGT500, UGT501, UGT502, UGT503, UGT504, UGT505, UGT506, UGT507, UGT508, UGT509, UGT510, UGT511, UGT512, UGT513, UGT514, UGT515, UGT516, UGT517, UGT518, UGT519, UGT520, UGT521, UGT522, UGT523, UGT524, UGT525, UGT526, UGT527, UGT528, UGT529, UGT530, UGT531, UGT532, UGT533, UGT534, UGT535, UGT536, UGT537, UGT538, UGT539, UGT540, UGT541, UGT542, UGT543, UGT544, UGT545, UGT546, UGT547, UGT548, UGT549, UGT550, UGT551, UGT552, UGT553, UGT554, UGT555, UGT556, UGT557, UGT558, UGT559, UGT560, UGT561, UGT562, UGT563, UGT564, UGT565, UGT566, UGT567, UGT568, UGT569, UGT570, UGT571, UGT572, UGT573, UGT574, UGT575, UGT576, UGT577, UGT578, UGT579, UGT580, UGT581, UGT582, UGT583, UGT584, UGT585, UGT586, UGT587, UGT588, UGT589, UGT590, UGT591, UGT592, UGT593, UGT594, UGT595, UGT596, UGT597, UGT598, UGT599, UGT600, UGT601, UGT602, UGT603, UGT604, UGT605, UGT606, UGT607, UGT608, UGT609, UGT610, UGT611, UGT612, UGT613, UGT614, UGT615, UGT616, UGT617, UGT618, UGT619, UGT620, UGT621, UGT622, UGT623, UGT624, UGT625, UGT626, UGT627, UGT628, UGT629, UGT630, UGT631, UGT632, UGT633, UGT634, UGT635, UGT636, UGT637, UGT638, UGT639, UGT640, UGT641, UGT642, UGT643, UGT644, UGT645, UGT646, UGT647, UGT648, UGT649, UGT650, UGT651, UGT652, UGT653, UGT654, UGT655, UGT656, UGT657, UGT658, UGT659, UGT660, UGT661, UGT662, UGT663, UGT664, UGT665, UGT666, UGT667, UGT668, UGT669, UGT670, UGT671, UGT672, UGT673, UGT674, UGT675, UGT676, UGT677, UGT678, UGT679, UGT680, UGT681, UGT682, UGT683, UGT684, UGT685, UGT686, UGT687, UGT688, UGT689, UGT690, UGT691, UGT692, UGT693, UGT694, UGT695, UGT696, UGT697, UGT698, UGT699, UGT700, UGT701, UGT702, UGT703, UGT704, UGT705, UGT706, UGT707, UGT708, UGT709, UGT710, UGT711, UGT712, UGT713, UGT714, UGT715, UGT716, UGT717, UGT718, UGT719, UGT720, UGT721, UGT722, UGT723, UGT724, UGT725, UGT726, UGT727, UGT728, UGT729, UGT730, UGT731, UGT732, UGT733, UGT734, UGT735, UGT736, UGT737, UGT738, UGT739, UGT740, UGT741, UGT742, UGT743, UGT744, UGT745, UGT746, UGT747, UGT748, UGT749, UGT750, UGT751, UGT752, UGT753, UGT754, UGT755, UGT756, UGT757, UGT758, UGT759, UGT760, UGT761, UGT762, UGT763, UGT764, UGT765, UGT766, UGT767, UGT768, UGT769, UGT770, UGT771, UGT772, UGT773, UGT774, UGT775, UGT776, UGT777, UGT778, UGT779, UGT780, UGT781, UGT782, UGT783, UGT784, UGT785, UGT786, UGT787, UGT788, UGT789, UGT790, UGT791, UGT792, UGT793, UGT794, UGT795, UGT796, UGT797, UGT798, UGT799, UGT800, UGT801, UGT802, UGT803, UGT804, UGT805, UGT806, UGT807, UGT808, UGT809, UGT810, UGT811, UGT812, UGT813, UGT814, UGT815, UGT816, UGT817, UGT818, UGT819, UGT820, UGT821, UGT822, UGT823, UGT824, UGT825, UGT826, UGT827, UGT828, UGT829, UGT830, UGT831, UGT832, UGT833, UGT834, UGT835, UGT836, UGT837, UGT838, UGT839, UGT840, UGT841, UGT842, UGT843, UGT844, UGT845, UGT846, UGT847, UGT848, UGT849, UGT850, UGT851, UGT852, UGT853, UGT854, UGT855, UGT856, UGT857, UGT858, UGT859, UGT860, UGT861, UGT862, UGT863, UGT864, UGT865, UGT866, UGT867, UGT868, UGT869, UGT870, UGT871, UGT872, UGT873, UGT874, UGT875, UGT876, UGT877, UGT878, UGT879, UGT880, UGT881, UGT882, UGT883, UGT884, UGT885, UGT886, UGT887, UGT888, UGT889, UGT890, UGT891, UGT892, UGT893, UGT894, UGT895, UGT896, UGT897, UGT898, UGT899, UGT900, UGT901, UGT902, UGT903, UGT904, UGT905, UGT906, UGT907, UGT908, UGT909, UGT910, UGT911, UGT912, UGT913, UGT914, UGT915, UGT916, UGT917, UGT918, UGT919, UGT920, UGT921, UGT922, UGT923, UGT924, UGT925, UGT926, UGT927, UGT928, UGT929, UGT930, UGT931, UGT932, UGT933, UGT934, UGT935, UGT936, UGT937, UGT938, UGT939, UGT940, UGT941, UGT942, UGT943, UGT944, UGT945, UGT946, UGT947, UGT948, UGT949, UGT950, UGT951, UGT952, UGT953, UGT954, UGT955, UGT956, UGT957, UGT958, UGT959, UGT960, UGT961, UGT962, UGT963, UGT964, UGT965, UGT966, UGT967, UGT968, UGT969, UGT970, UGT971, UGT972, UGT973, UGT974, UGT975, UGT976, UGT977, UGT978, UGT979, UGT980, UGT981, UGT982, UGT983, UGT984, UGT985, UGT986, UGT987, UGT988, UGT989, UGT990, UGT991, UGT992, UGT993, UGT994, UGT995, UGT996, UGT997, UGT998, UGT999, UGT1000 |
Description
SLC35A2 encodes a UDP-galactose transporter localized to the Golgi membrane. It mediates the import of UDP-galactose from the cytosol into the Golgi lumen, where galactose is transferred to glycoproteins and glycolipids. Mutations in SLC35A2 cause congenital disorder of glycosylation type IIm (SLC35A2-CDG), an X-linked disorder characterized by intellectual disability, seizures, and abnormal glycosylation. Somatic mutations in SLC35A2 are also found in various cancers, including colorectal and lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIm (SLC35A2-CDG) | Loss-of-function mutations impair UDP-galactose transport, leading to undergalactosylation of glycoconjugates | OMIM #300896, ClinVar |
| Epileptic encephalopathy, early infantile | De novo or inherited missense/nonsense variants disrupt transporter function, causing neuronal glycosylation defects | ClinVar, PubMed |
| Colorectal cancer | Somatic missense mutations (e.g., p.Arg238Trp) may alter glycosylation patterns promoting tumor progression | COSMIC |
| Lung adenocarcinoma | Recurrent somatic mutations in SLC35A2 identified in tumor sequencing studies | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 7.2 | Low |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| A549 | 8.5 | Medium expression |
| HCT116 | 7.1 | Low expression |
| MCF7 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.238C>T (p.Arg80*) | nonsense | <0.01% | Premature stop, loss of function |
| c.712C>T (p.Arg238Trp) | missense | 0.02% | Impaired UDP-galactose transport, gain of function? (cancer) |
| c.1040G>A (p.Arg347Gln) | missense | <0.01% | Reduced transporter activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that abolish UDP-galactose transport cause SLC35A2-CDG.
Gain of Function (GOF)
Some somatic missense mutations (e.g., p.Arg238Trp) may enhance transporter activity or alter substrate specificity in cancer.
Dominant Negative (DN)
Not well documented; X-linked hemizygosity in males may lead to complete loss, while females with heterozygous mutations may show skewed X-inactivation.
View complete mutation data：
Gene Ontology (GO)
| • UDP-galactose transmembrane transporter activity (GO:0005459) | • UDP-galactose transport (GO:0015780) |
| • Golgi membrane (GO:0005794) | • protein glycosylation (GO:0006486) |
| • integral component of membrane (GO:0016021) |
Pathways
• Glycosylation of glycoproteins (Reactome: R-HSA-975578)
• Transport of UDP-sugars into Golgi lumen (Reactome: R-HSA-727802)
Protein Summary
SLC35A2 is a 396-amino acid multi-pass transmembrane protein localized to the Golgi apparatus. It functions as a UDP-galactose antiporter, exchanging UDP-galactose for UMP. The protein contains 10 transmembrane domains and is essential for proper glycosylation of proteins and lipids. Defects in this transporter lead to undergalactosylation of N- and O-linked glycans, causing congenital disorder of glycosylation type IIm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35A2 Knockout HEK293 Cell Line | EDJ-KQ3494 | Human | 7355 | Details Get a Quote |
| SLC35A2 Knockout A-549 Cell Line | EDJ-KQ25287 | Human | 7355 | Details Get a Quote |
| SLC35A2 Knockout HCT 116 Cell Line | EDJ-KQ25288 | Human | 7355 | Details Get a Quote |
| SLC35A2 Knockout HeLa Cell Line | EDJ-KQ25289 | Human | 7355 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
