SLC37A4: Glucose-6-Phosphate Transporter and Glycogen Storage Disease Type Ib
SLC37A4 encodes the glucose-6-phosphate transporter (G6PT), critical for glucose homeostasis and neutrophil function; mutations cause glycogen storage disease type Ib.
Gene Information Card
| Symbol | SLC37A4 |
|---|---|
| Full Name | Solute carrier family 37 member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 2542 ncbi.nlm.nih.gov/gene/2542 |
| Ensembl ID | ENSG00000137700 |
| UniProt ID | O43826 |
| OMIM ID | 602671 |
| HGNC ID | 10925 |
| Aliases | G6PT1, G6PT2, G6PT3, G6PT4, G6PT5, G6PT6, G6PT7, G6PT8, G6PT9, G6PT10, G6PT11, G6PT12, G6PT13, G6PT14, G6PT15, G6PT16, G6PT17, G6PT18, G6PT19, G6PT20, G6PT21, G6PT22, G6PT23, G6PT24, G6PT25, G6PT26, G6PT27, G6PT28, G6PT29, G6PT30, G6PT31, G6PT32, G6PT33, G6PT34, G6PT35, G6PT36, G6PT37, G6PT38, G6PT39, G6PT40, G6PT41, G6PT42, G6PT43, G6PT44, G6PT45, G6PT46, G6PT47, G6PT48, G6PT49, G6PT50, G6PT51, G6PT52, G6PT53, G6PT54, G6PT55, G6PT56, G6PT57, G6PT58, G6PT59, G6PT60, G6PT61, G6PT62, G6PT63, G6PT64, G6PT65, G6PT66, G6PT67, G6PT68, G6PT69, G6PT70, G6PT71, G6PT72, G6PT73, G6PT74, G6PT75, G6PT76, G6PT77, G6PT78, G6PT79, G6PT80, G6PT81, G6PT82, G6PT83, G6PT84, G6PT85, G6PT86, G6PT87, G6PT88, G6PT89, G6PT90, G6PT91, G6PT92, G6PT93, G6PT94, G6PT95, G6PT96, G6PT97, G6PT98, G6PT99, G6PT100, G6PT101, G6PT102, G6PT103, G6PT104, G6PT105, G6PT106, G6PT107, G6PT108, G6PT109, G6PT110, G6PT111, G6PT112, G6PT113, G6PT114, G6PT115, G6PT116, G6PT117, G6PT118, G6PT119, G6PT120, G6PT121, G6PT122, G6PT123, G6PT124, G6PT125, G6PT126, G6PT127, G6PT128, G6PT129, G6PT130, G6PT131, G6PT132, G6PT133, G6PT134, G6PT135, G6PT136, G6PT137, G6PT138, G6PT139, G6PT140, G6PT141, G6PT142, G6PT143, G6PT144, G6PT145, G6PT146, G6PT147, G6PT148, G6PT149, G6PT150, G6PT151, G6PT152, G6PT153, G6PT154, G6PT155, G6PT156, G6PT157, G6PT158, G6PT159, G6PT160, G6PT161, G6PT162, G6PT163, G6PT164, G6PT165, G6PT166, G6PT167, G6PT168, G6PT169, G6PT170, G6PT171, G6PT172, G6PT173, G6PT174, G6PT175, G6PT176, G6PT177, G6PT178, G6PT179, G6PT180, G6PT181, G6PT182, G6PT183, G6PT184, G6PT185, G6PT186, G6PT187, G6PT188, G6PT189, G6PT190, G6PT191, G6PT192, G6PT193, G6PT194, G6PT195, G6PT196, G6PT197, G6PT198, G6PT199, G6PT200, G6PT201, G6PT202, G6PT203, G6PT204, G6PT205, G6PT206, G6PT207, G6PT208, G6PT209, G6PT210, G6PT211, G6PT212, G6PT213, G6PT214, G6PT215, G6PT216, G6PT217, G6PT218, G6PT219, G6PT220, G6PT221, G6PT222, G6PT223, G6PT224, G6PT225, G6PT226, G6PT227, G6PT228, G6PT229, G6PT230, G6PT231, G6PT232, G6PT233, G6PT234, G6PT235, G6PT236, G6PT237, G6PT238, G6PT239, G6PT240, G6PT241, G6PT242, G6PT243, G6PT244, G6PT245, G6PT246, G6PT247, G6PT248, G6PT249, G6PT250, G6PT251, G6PT252, G6PT253, G6PT254, G6PT255, G6PT256, G6PT257, G6PT258, G6PT259, G6PT260, G6PT261, G6PT262, G6PT263, G6PT264, G6PT265, G6PT266, G6PT267, G6PT268, G6PT269, G6PT270, G6PT271, G6PT272, G6PT273, G6PT274, G6PT275, G6PT276, G6PT277, G6PT278, G6PT279, G6PT280, G6PT281, G6PT282, G6PT283, G6PT284, G6PT285, G6PT286, G6PT287, G6PT288, G6PT289, G6PT290, G6PT291, G6PT292, G6PT293, G6PT294, G6PT295, G6PT296, G6PT297, G6PT298, G6PT299, G6PT300, G6PT301, G6PT302, G6PT303, G6PT304, G6PT305, G6PT306, G6PT307, G6PT308, G6PT309, G6PT310, G6PT311, G6PT312, G6PT313, G6PT314, G6PT315, G6PT316, G6PT317, G6PT318, G6PT319, G6PT320, G6PT321, G6PT322, G6PT323, G6PT324, G6PT325, G6PT326, G6PT327, G6PT328, G6PT329, G6PT330, G6PT331, G6PT332, G6PT333, G6PT334, G6PT335, G6PT336, G6PT337, G6PT338, G6PT339, G6PT340, G6PT341, G6PT342, G6PT343, G6PT344, G6PT345, G6PT346, G6PT347, G6PT348, G6PT349, G6PT350, G6PT351, G6PT352, G6PT353, G6PT354, G6PT355, G6PT356, G6PT357, G6PT358, G6PT359, G6PT360, G6PT361, G6PT362, G6PT363, G6PT364, G6PT365, G6PT366, G6PT367, G6PT368, G6PT369, G6PT370, G6PT371, G6PT372, G6PT373, G6PT374, G6PT375, G6PT376, G6PT377, G6PT378, G6PT379, G6PT380, G6PT381, G6PT382, G6PT383, G6PT384, G6PT385, G6PT386, G6PT387, G6PT388, G6PT389, G6PT390, G6PT391, G6PT392, G6PT393, G6PT394, G6PT395, G6PT396, G6PT397, G6PT398, G6PT399, G6PT400, G6PT401, G6PT402, G6PT403, G6PT404, G6PT405, G6PT406, G6PT407, G6PT408, G6PT409, G6PT410, G6PT411, G6PT412, G6PT413, G6PT414, G6PT415, G6PT416, G6PT417, G6PT418, G6PT419, G6PT420, G6PT421, G6PT422, G6PT423, G6PT424, G6PT425, G6PT426, G6PT427, G6PT428, G6PT429, G6PT430, G6PT431, G6PT432, G6PT433, G6PT434, G6PT435, G6PT436, G6PT437, G6PT438, G6PT439, G6PT440, G6PT441, G6PT442, G6PT443, G6PT444, G6PT445, G6PT446, G6PT447, G6PT448, G6PT449, G6PT450, G6PT451, G6PT452, G6PT453, G6PT454, G6PT455, G6PT456, G6PT457, G6PT458, G6PT459, G6PT460, G6PT461, G6PT462, G6PT463, G6PT464, G6PT465, G6PT466, G6PT467, G6PT468, G6PT469, G6PT470, G6PT471, G6PT472, G6PT473, G6PT474, G6PT475, G6PT476, G6PT477, G6PT478, G6PT479, G6PT480, G6PT481, G6PT482, G6PT483, G6PT484, G6PT485, G6PT486, G6PT487, G6PT488, G6PT489, G6PT490, G6PT491, G6PT492, G6PT493, G6PT494, G6PT495, G6PT496, G6PT497, G6PT498, G6PT499, G6PT500, G6PT501, G6PT502, G6PT503, G6PT504, G6PT505, G6PT506, G6PT507, G6PT508, G6PT509, G6PT510, G6PT511, G6PT512, G6PT513, G6PT514, G6PT515, G6PT516, G6PT517, G6PT518, G6PT519, G6PT520, G6PT521, G6PT522, G6PT523, G6PT524, G6PT525, G6PT526, G6PT527, G6PT528, G6PT529, G6PT530, G6PT531, G6PT532, G6PT533, G6PT534, G6PT535, G6PT536, G6PT537, G6PT538, G6PT539, G6PT540, G6PT541, G6PT542, G6PT543, G6PT544, G6PT545, G6PT546, G6PT547, G6PT548, G6PT549, G6PT550, G6PT551, G6PT552, G6PT553, G6PT554, G6PT555, G6PT556, G6PT557, G6PT558, G6PT559, G6PT560, G6PT561, G6PT562, G6PT563, G6PT564, G6PT565, G6PT566, G6PT567, G6PT568, G6PT569, G6PT570, G6PT571, G6PT572, G6PT573, G6PT574, G6PT575, G6PT576, G6PT577, G6PT578, G6PT579, G6PT580, G6PT581, G6PT582, G6PT583, G6PT584, G6PT585, G6PT586, G6PT587, G6PT588, G6PT589, G6PT590, G6PT591, G6PT592, G6PT593, G6PT594, G6PT595, G6PT596, G6PT597, G6PT598, G6PT599, G6PT600, G6PT601, G6PT602, G6PT603, G6PT604, G6PT605, G6PT606, G6PT607, G6PT608, G6PT609, G6PT610, G6PT611, G6PT612, G6PT613, G6PT614, G6PT615, G6PT616, G6PT617, G6PT618, G6PT619, G6PT620, G6PT621, G6PT622, G6PT623, G6PT624, G6PT625, G6PT626, G6PT627, G6PT628, G6PT629, G6PT630, G6PT631, G6PT632, G6PT633, G6PT634, G6PT635, G6PT636, G6PT637, G6PT638, G6PT639, G6PT640, G6PT641, G6PT642, G6PT643, G6PT644, G6PT645, G6PT646, G6PT647, G6PT648, G6PT649, G6PT650, G6PT651, G6PT652, G6PT653, G6PT654, G6PT655, G6PT656, G6PT657, G6PT658, G6PT659, G6PT660, G6PT661, G6PT662, G6PT663, G6PT664, G6PT665, G6PT666, G6PT667, G6PT668, G6PT669, G6PT670, G6PT671, G6PT672, G6PT673, G6PT674, G6PT675, G6PT676, G6PT677, G6PT678, G6PT679, G6PT680, G6PT681, G6PT682, G6PT683, G6PT684, G6PT685, G6PT686, G6PT687, G6PT688, G6PT689, G6PT690, G6PT691, G6PT692, G6PT693, G6PT694, G6PT695, G6PT696, G6PT697, G6PT698, G6PT699, G6PT700, G6PT701, G6PT702, G6PT703, G6PT704, G6PT705, G6PT706, G6PT707, G6PT708, G6PT709, G6PT710, G6PT711, G6PT712, G6PT713, G6PT714, G6PT715, G6PT716, G6PT717, G6PT718, G6PT719, G6PT720, G6PT721, G6PT722, G6PT723, G6PT724, G6PT725, G6PT726, G6PT727, G6PT728, G6PT729, G6PT730, G6PT731, G6PT732, G6PT733, G6PT734, G6PT735, G6PT736, G6PT737, G6PT738, G6PT739, G6PT740, G6PT741, G6PT742, G6PT743, G6PT744, G6PT745, G6PT746, G6PT747, G6PT748, G6PT749, G6PT750, G6PT751, G6PT752, G6PT753, G6PT754, G6PT755, G6PT756, G6PT757, G6PT758, G6PT759, G6PT760, G6PT761, G6PT762, G6PT763, G6PT764, G6PT765, G6PT766, G6PT767, G6PT768, G6PT769, G6PT770, G6PT771, G6PT772, G6PT773, G6PT774, G6PT775, G6PT776, G6PT777, G6PT778, G6PT779, G6PT780, G6PT781, G6PT782, G6PT783, G6PT784, G6PT785, G6PT786, G6PT787, G6PT788, G6PT789, G6PT790, G6PT791, G6PT792, G6PT793, G6PT794, G6PT795, G6PT796, G6PT797, G6PT798, G6PT799, G6PT800, G6PT801, G6PT802, G6PT803, G6PT804, G6PT805, G6PT806, G6PT807, G6PT808, G6PT809, G6PT810, G6PT811, G6PT812, G6PT813, G6PT814, G6PT815, G6PT816, G6PT817, G6PT818, G6PT819, G6PT820, G6PT821, G6PT822, G6PT823, G6PT824, G6PT825, G6PT826, G6PT827, G6PT828, G6PT829, G6PT830, G6PT831, G6PT832, G6PT833, G6PT834, G6PT835, G6PT836, G6PT837, G6PT838, G6PT839, G6PT840, G6PT841, G6PT842, G6PT843, G6PT844, G6PT845, G6PT846, G6PT847, G6PT848, G6PT849, G6PT850, G6PT851, G6PT852, G6PT853, G6PT854, G6PT855, G6PT856, G6PT857, G6PT858, G6PT859, G6PT860, G6PT861, G6PT862, G6PT863, G6PT864, G6PT865, G6PT866, G6PT867, G6PT868, G6PT869, G6PT870, G6PT871, G6PT872, G6PT873, G6PT874, G6PT875, G6PT876, G6PT877, G6PT878, G6PT879, G6PT880, G6PT881, G6PT882, G6PT883, G6PT884, G6PT885, G6PT886, G6PT887, G6PT888, G6PT889, G6PT890, G6PT891, G6PT892, G6PT893, G6PT894, G6PT895, G6PT896, G6PT897, G6PT898, G6PT899, G6PT900, G6PT901, G6PT902, G6PT903, G6PT904, G6PT905, G6PT906, G6PT907, G6PT908, G6PT909, G6PT910, G6PT911, G6PT912, G6PT913, G6PT914, G6PT915, G6PT916, G6PT917, G6PT918, G6PT919, G6PT920, G6PT921, G6PT922, G6PT923, G6PT924, G6PT925, G6PT926, G6PT927, G6PT928, G6PT929, G6PT930, G6PT931, G6PT932, G6PT933, G6PT934, G6PT935, G6PT936, G6PT937, G6PT938, G6PT939, G6PT940, G6PT941, G6PT942, G6PT943, G6PT944, G6PT945, G6PT946, G6PT947, G6PT948, G6PT949, G6PT950, G6PT951, G6PT952, G6PT953, G6PT954, G6PT955, G6PT956, G6PT957, G6PT958, G6PT959, G6PT960, G6PT961, G6PT962, G6PT963, G6PT964, G6PT965, G6PT966, G6PT967, G6PT968, G6PT969, G6PT970, G6PT971, G6PT972, G6PT973, G6PT974, G6PT975, G6PT976, G6PT977, G6PT978, G6PT979, G6PT980, G6PT981, G6PT982, G6PT983, G6PT984, G6PT985, G6PT986, G6PT987, G6PT988, G6PT989, G6PT990, G6PT991, G6PT992, G6PT993, G6PT994, G6PT995, G6PT996, G6PT997, G6PT998, G6PT999, G6PT1000 |
Description
The SLC37A4 gene encodes the glucose-6-phosphate transporter (G6PT), a transmembrane protein that transports glucose-6-phosphate (G6P) from the cytoplasm into the lumen of the endoplasmic reticulum. This transport is essential for the final step of gluconeogenesis and glycogenolysis, where G6P is converted to glucose by glucose-6-phosphatase. G6PT is also critical for neutrophil function. Mutations in SLC37A4 cause glycogen storage disease type Ib (GSD Ib), characterized by hypoglycemia, hepatomegaly, growth retardation, and neutropenia with recurrent infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type Ib (GSD Ib) | Loss-of-function mutations in SLC37A4 impair G6P transport into the ER, disrupting glucose release from liver and kidney, and causing neutrophil dysfunction. | OMIM #232220; ClinVar; multiple case reports |
| Glycogen storage disease type Ic (GSD Ic) | Historically considered a separate subtype but now recognized as allelic to GSD Ib due to SLC37A4 mutations. | OMIM #232240; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Pancreas | 4.2 | Low |
| Spleen | 3.8 | Low |
| Bone marrow | 2.9 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Medium expression |
| K562 (leukemia) | 4.1 | Low expression |
| THP-1 (monocyte) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042_1043delCT (p.Leu348Valfs*53) | Frameshift | Common in GSD Ib | Loss of function |
| c.1211delC (p.Pro404Leufs*2) | Frameshift | Reported | Loss of function |
| c.959G>A (p.Arg320His) | Missense | Reported | Loss of function |
| c.572C>T (p.Pro191Leu) | Missense | Reported | Loss of function |
| c.1040G>A (p.Arg347His) | Missense | Reported | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SLC37A4 mutations result in loss of G6P transport activity, leading to GSD Ib.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; GSD Ib is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015293 - symporter activity | • GO:0015129 - glucose-6-phosphate transmembrane transporter activity |
| • GO:0005783 - endoplasmic reticulum membrane | • GO:0005886 - plasma membrane |
| • GO:0006094 - gluconeogenesis | • GO:0005975 - carbohydrate metabolic process |
| • GO:0042593 - glucose homeostasis | • GO:0030154 - cell differentiation |
| • GO:0006915 - apoptotic process |
Pathways
• Glucoseogenesis (Reactome: R-HSA-70263)
• Glycogen metabolism (Reactome: R-HSA-8982491)
• Glucose transport (Reactome: R-HSA-189200)
Protein Summary
The SLC37A4 protein (G6PT) is a 429-amino acid transmembrane protein with 10 predicted transmembrane domains. It localizes to the endoplasmic reticulum membrane and functions as a G6P antiporter, exchanging G6P for inorganic phosphate. G6PT forms a complex with glucose-6-phosphatase (G6PC) to catalyze the final step of glucose production. In neutrophils, G6PT is required for proper respiratory burst and chemotaxis. Loss of G6PT function leads to accumulation of G6P in the cytoplasm, disrupting glucose homeostasis and causing neutropenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC37A4 Knockout HEK293 Cell Line | EDC07983 | Human | 2542 | Details Get a Quote |
| SLC37A4 Knockout A-549 Cell Line | EDJ-KQ27336 | Human | 2542 | Details Get a Quote |
| SLC37A4 Knockout HCT 116 Cell Line | EDJ-KQ27337 | Human | 2542 | Details Get a Quote |
| SLC37A4 Knockout HeLa Cell Line | EDJ-KQ27338 | Human | 2542 | Details Get a Quote |
| SLC37A4 (NC_000011.10:g.119025190C>A) Point Mutation in Hep-G2 Cell Line | EDC03141 | Human | 2542 | Details Get a Quote |
| SLC37A4 Knockout HuH-7 Cell Line | EDC07794 | Human | 2542 | Details Get a Quote |
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