SLC37A4

Summary

SLC37A4 (solute carrier family 37 member 4, HGNC:4061) is a protein-coding gene on chromosome 11q23.3, encoding Glucose-6-phosphate exchanger SLC37A4 (O43826). Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum.

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.

Source: NCBI Gene 2542 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glycogen storage disease type 1 due to SLC37A4 mutation (Definitive, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 1,143 total — 88 pathogenic, 65 likely-pathogenic
• Phenotypes (HPO): 145
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001164277

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4061
Approved symbol	SLC37A4
Name	solute carrier family 37 member 4
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	GSD1b, GSD1c, GSD1d, G6PT, SPX4
Ensembl gene	ENSG00000137700
Ensembl biotype	protein_coding
OMIM	602671
Entrez	2542

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 12 protein_coding_CDS_not_defined, 11 retained_intron, 4 protein_coding

ENST00000330775, ENST00000357590, ENST00000524428, ENST00000525039, ENST00000525102, ENST00000525372, ENST00000525787, ENST00000526275, ENST00000526626, ENST00000527992, ENST00000529510, ENST00000530407, ENST00000532085, ENST00000532888, ENST00000534384, ENST00000538950, ENST00000545985, ENST00000638186, ENST00000638925, ENST00000650539, ENST00000697845, ENST00000697846, ENST00000697847, ENST00000697848, ENST00000697849, ENST00000697850, ENST00000697851

RefSeq mRNA: 5 — MANE Select: NM_001164277 NM_001164277, NM_001164278, NM_001164279, NM_001164280, NM_001467

Canonical transcript exons

ENST00000545985 — 11 exons

Exon	Start	End
ENSE00001273714	119027628	119027724
ENSE00001273889	119027726	119027872
ENSE00002144586	119030232	119030735
ENSE00002173179	119030849	119030906
ENSE00003485364	119029222	119029564
ENSE00003538303	119025967	119026080
ENSE00003549654	119025191	119025329
ENSE00003573641	119026603	119026688
ENSE00003624719	119026937	119027095
ENSE00003632987	119028194	119028426
ENSE00003739767	119024351	119025076

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4352 / max 104.2428, expressed in 1716 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122663	9.4032	1708
122662	0.5879	302
122660	0.2015	36
122658	0.1290	55
122659	0.0710	28
122661	0.0426	17

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	97.74	gold quality
liver	UBERON:0002107	97.08	gold quality
duodenum	UBERON:0002114	97.07	gold quality
body of pancreas	UBERON:0001150	96.20	gold quality
pancreas	UBERON:0001264	95.40	gold quality
adult mammalian kidney	UBERON:0000082	95.18	gold quality
islet of Langerhans	UBERON:0000006	94.71	gold quality
kidney	UBERON:0002113	93.55	gold quality
cortex of kidney	UBERON:0001225	92.78	gold quality
mucosa of transverse colon	UBERON:0004991	92.77	gold quality
gastrocnemius	UBERON:0001388	92.66	gold quality
rectum	UBERON:0001052	92.43	gold quality
metanephros cortex	UBERON:0010533	92.41	gold quality
skeletal muscle tissue	UBERON:0001134	92.38	gold quality
muscle of leg	UBERON:0001383	92.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.14	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.04	gold quality
small intestine	UBERON:0002108	91.65	gold quality
right uterine tube	UBERON:0001302	90.94	gold quality
muscle tissue	UBERON:0002385	90.14	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.44	gold quality
gall bladder	UBERON:0002110	89.43	gold quality
transverse colon	UBERON:0001157	89.42	gold quality
body of stomach	UBERON:0001161	88.90	gold quality
stomach	UBERON:0000945	87.19	gold quality
intestine	UBERON:0000160	87.11	gold quality
fundus of stomach	UBERON:0001160	87.06	gold quality
ventricular zone	UBERON:0003053	86.73	gold quality
right adrenal gland	UBERON:0001233	86.52	gold quality
fallopian tube	UBERON:0003889	86.42	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	29.42
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO1, NR3C1

miRNA regulators (miRDB)

30 targeting SLC37A4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-3127-5P	97.52	65.24	786
HSA-MIR-1224-3P	97.24	65.92	851
HSA-MIR-3139	96.68	66.77	652
HSA-MIR-3135A	96.41	65.30	494
HSA-MIR-28-5P	96.16	66.12	579
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-524-3P	95.15	66.16	109
HSA-MIR-525-3P	95.15	65.95	109

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 23)

• operates by a similar antiport mechanism as its E. coli homologue, namely, the substrate binds at the N- and C-terminal domain interface and is then transported across the membrane via a rocker-switch type of movement of the two domains (PMID:15260472)
• mutational analysis of G6PT1 in type I glycogen storage disease (PMID:16435186)
• Overexpression of recombinant glucose-6-phosphate translocase rescued the cells from curcumin-induced cell death [ glucose-6-phosphate translocase] (PMID:16777101)
• A novel G6PT1 promoter polymorphism, 259C –> T was found; the - 259*T allele frequency was greater in term SIDS infants than in term control infants and preterm SIDS infants (PMID:17354259)
• A molecular signaling axis regulates the invasive phenotype of brain tumor cells and highlights a new bioswitch function for glucose-6-phosphate transporter (G6PT) in cell survival. (PMID:17460777)
• Targeted inhibition of either MT1-MMP or G6PT may lead to reduced infiltrative and invasive properties of brain tumor cells. (PMID:18267120)
• Human G6PT contains 10-transmembrane helices and is more probable than the bacterial Uhp that contains 12-transmembrane helices. (PMID:19008136)
• Our results suggest that in Sardinia, Glycogen storage disease Ib is caused by only one mutational event in the G6PT gene, further suggesting that Sardinia is a founder population. (PMID:20578944)
• Two novel mutations were identified in these samples: one had a novel mutation (25C>T); the remaining sample carried a 49 bp deletion in intron 12. (PMID:21446359)
• A total of 11 SLC37A4 gene mutations were identified in 15 families of the mainland of China. The frequent mutations are p.Pro191Leu, p.Gly149Glu and c.870 + 5G > A. (PMID:21575371)
• Five SLC37A4 gene mutations were detected in 7 (25%) of the 28 children (PMID:23965881)
• Data suggest that G6PT modulates autophagy independent of its transport activity; G6PT appears to up-regulate autophagy via inactivation of mTORC1; knockdown of G6PT expression activates mTORC1 (mechanistic target of rapamycin complex 1) activity. (PMID:25982172)
• Post-translational regulation of the glucose-6-phosphatase complex by cyclic AMP is a crucial determinant of endogenous glucose production and is controlled by the glucose-6-phosphate transporter. (PMID:26958868)
• The most common mutation of SLC37A4 genes identified in Korean patients was c.443C>T (p.Ala148Val), accounting for 55.6% (5/9 patients) of all GSD Ib patients and 38.9% of the tested alleles (PMID:28224773)
• We report the MFRP-related ocular phenotype in three siblings with glycogen storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes. (PMID:28511025)
• In SLC37A4 gene, 6 variants were detected. Three previously reported variants c.81T>A (p.Asn27Lys), c.162C>A (p.Ser54Arg) and c.1042_1043delCT (p.Leu348Valfs*53) accounted for 87% of all analyzed alleles. Computational, transcription studies and/or clinical presentation in patients confirmed pathogenic effect of 3 novel variants. (PMID:28685844)
• Study demonstrates that G6PT is essential for proliferation and differentiation of adipose-derived mesenchymal stem cells , providing important insights into the GSD-Ib phenotypes. (PMID:29238966)
• Study established a cellular model system characterized by a deficiency of SLC37A4, which presents pathological manifestations of GSD Ib in the kidney. Expression analysis in a novel model system supports the hypothesis that renal dysfunction in the GSD Ib is partly due to the ER stress and increased apoptosis. (PMID:30951856)
• Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b). (PMID:32005221)
• A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis. (PMID:33280276)
• A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. (PMID:33964207)
• Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review. (PMID:38087503)
• SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression. (PMID:39433915)

Cross-species orthologs

51 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc37a4a	ENSDARG00000038106
mus_musculus	Slc37a4	ENSMUSG00000032114
rattus_norvegicus	Slc37a4	ENSRNOG00000011361
drosophila_melanogaster	dmGlut	FBGN0010497
drosophila_melanogaster	MFS14	FBGN0010651
drosophila_melanogaster	Picot	FBGN0024315
drosophila_melanogaster	CG9254	FBGN0028513
drosophila_melanogaster	CG6978	FBGN0029727
drosophila_melanogaster	VGlut	FBGN0031424
drosophila_melanogaster	CG7881	FBGN0033048
drosophila_melanogaster	MFS12	FBGN0033234
drosophila_melanogaster	MFS15	FBGN0034392
drosophila_melanogaster	CG15096	FBGN0034394
drosophila_melanogaster	MFS16	FBGN0034611
drosophila_melanogaster	CG12490	FBGN0034782
drosophila_melanogaster	CG9825	FBGN0034783
drosophila_melanogaster	CG9826	FBGN0034784
drosophila_melanogaster	CG3649	FBGN0034785
drosophila_melanogaster	CG2003	FBGN0039886
drosophila_melanogaster	CG30265	FBGN0050265
drosophila_melanogaster	MFS1	FBGN0050272
caenorhabditis_elegans		WBGENE00001135
caenorhabditis_elegans		WBGENE00007669
caenorhabditis_elegans		WBGENE00008000
caenorhabditis_elegans		WBGENE00008677
caenorhabditis_elegans		WBGENE00010755
caenorhabditis_elegans		WBGENE00010931
caenorhabditis_elegans		WBGENE00011185
caenorhabditis_elegans		WBGENE00011556
caenorhabditis_elegans		WBGENE00012443
caenorhabditis_elegans		WBGENE00015271
caenorhabditis_elegans		WBGENE00015272
caenorhabditis_elegans		WBGENE00016003
caenorhabditis_elegans		WBGENE00018429
caenorhabditis_elegans		WBGENE00018918
caenorhabditis_elegans		WBGENE00018920
caenorhabditis_elegans		WBGENE00019187
caenorhabditis_elegans		WBGENE00019655
caenorhabditis_elegans		WBGENE00020583
caenorhabditis_elegans		WBGENE00020584
caenorhabditis_elegans		WBGENE00020697
caenorhabditis_elegans		WBGENE00020698
caenorhabditis_elegans		WBGENE00020699
caenorhabditis_elegans		WBGENE00020700
caenorhabditis_elegans		WBGENE00021157
caenorhabditis_elegans		WBGENE00021158
caenorhabditis_elegans		WBGENE00021219
caenorhabditis_elegans		WBGENE00021220
caenorhabditis_elegans		WBGENE00021223
caenorhabditis_elegans		WBGENE00021226
caenorhabditis_elegans		WBGENE00302978

Paralogs (12): SLC17A6 (ENSG00000091664), SLC17A9 (ENSG00000101194), SLC17A7 (ENSG00000104888), SLC17A2 (ENSG00000112337), SLC17A5 (ENSG00000119899), SLC17A3 (ENSG00000124564), SLC17A1 (ENSG00000124568), SLC37A2 (ENSG00000134955), SLC17A4 (ENSG00000146039), SLC37A3 (ENSG00000157800), SLC37A1 (ENSG00000160190), SLC17A8 (ENSG00000179520)

Protein

Protein identifiers

Glucose-6-phosphate exchanger SLC37A4 — O43826 (reviewed: O43826)

Alternative names: Glucose-5-phosphate transporter, Glucose-6-phosphate translocase, Solute carrier family 37 member 4, Transformation-related gene 19 protein

All UniProt accessions (3): U3KPU7, U3KQL4, U3KQS2

UniProt curated annotations — full annotation on UniProt →

Function. Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Mostly expressed in liver and kidney.

Disease relevance. Glycogen storage disease 1B (GSD1B) [MIM:232220] A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. The disease is caused by variants affecting the gene represented in this entry. Glycogen storage disease 1C (GSD1C) [MIM:232240] A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. The disease is caused by variants affecting the gene represented in this entry. Glycogen storage disease 1D (GSD1D) [MIM:232240] A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. The disease is caused by variants affecting the gene represented in this entry. Congenital disorder of glycosylation 2W (CDG2W) [MIM:619525] A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2W is an autosomal dominant disorder characterized by liver dysfunction and coagulation deficiencies. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by vanadate and chlorogenic acid.

Similarity. Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family.

Isoforms (2)

UniProt ID	Names	Canonical?
O43826-1	1	yes
O43826-2	2

RefSeq proteins (5): NP_001157749, NP_001157750, NP_001157751, NP_001157752, NP_001458 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000849	Sugar_P_transporter	Family
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR021159	Sugar-P_transporter_CS	Conserved_site
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR051337	OPA_Antiporter	Family

Pfam: PF07690

Catalyzed reactions (Rhea), 1 shown:

• D-glucose 6-phosphate(in) + phosphate(out) = D-glucose 6-phosphate(out) + phosphate(in) (RHEA:71535)

UniProt features (48 total): sequence variant 35, transmembrane region 10, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

25 structures.

PDB	Method	Resolution (Å)
21NQ	ELECTRON MICROSCOPY	2.8
21OR	ELECTRON MICROSCOPY	2.8
9LL1	ELECTRON MICROSCOPY	2.82
9X8X	ELECTRON MICROSCOPY	2.89
9X97	ELECTRON MICROSCOPY	2.89
9UGU	ELECTRON MICROSCOPY	3.07
9XCB	ELECTRON MICROSCOPY	3.08
9WT2	ELECTRON MICROSCOPY	3.12
9LNB	ELECTRON MICROSCOPY	3.15
9UGX	ELECTRON MICROSCOPY	3.16
9W1N	ELECTRON MICROSCOPY	3.2
9W1O	ELECTRON MICROSCOPY	3.2
9W1Q	ELECTRON MICROSCOPY	3.2
9XCA	ELECTRON MICROSCOPY	3.27
9LL0	ELECTRON MICROSCOPY	3.28
21NP	ELECTRON MICROSCOPY	3.3
9KV0	ELECTRON MICROSCOPY	3.4
9W1P	ELECTRON MICROSCOPY	3.4
9W1R	ELECTRON MICROSCOPY	3.4
9LVW	ELECTRON MICROSCOPY	3.41
9WS8	ELECTRON MICROSCOPY	3.47
9UGY	ELECTRON MICROSCOPY	3.5
9X95	ELECTRON MICROSCOPY	3.5
9KUY	ELECTRON MICROSCOPY	3.6
9KVV	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43826-F1	85.89	0.39

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-3229133	Glycogen storage disease type Ib (SLC37A4)
R-HSA-70263	Gluconeogenesis

MSigDB gene sets: 524 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MOOTHA_GLYCOGEN_METABOLISM, MYOGENIN_Q6, ATACCTC_MIR202, GOBP_INORGANIC_ANION_TRANSPORT, MITSIADES_RESPONSE_TO_APLIDIN_DN, LHX3_01, CHX10_01, GGGTGGRR_PAX4_03, LEE_LIVER_CANCER_CIPROFIBRATE_DN, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, EVI1_05, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, NKX62_Q2, UEDA_PERIFERAL_CLOCK

GO Biological Process (20): glucose metabolic process (GO:0006006), gluconeogenesis (GO:0006094), glucose-6-phosphate transport (GO:0015760), phosphate ion transmembrane transport (GO:0035435), glucose homeostasis (GO:0042593), neutrophil homeostasis (GO:0001780), myeloid progenitor cell differentiation (GO:0002318), glycogen metabolic process (GO:0005977), lactate metabolic process (GO:0006089), triglyceride metabolic process (GO:0006641), intracellular calcium ion homeostasis (GO:0006874), response to nutrient (GO:0007584), steroid metabolic process (GO:0008202), response to glucose (GO:0009749), neutrophil chemotaxis (GO:0030593), negative regulation of chemokine production (GO:0032682), post-embryonic hemopoiesis (GO:0035166), cholesterol homeostasis (GO:0042632), respiratory burst (GO:0045730), transmembrane transport (GO:0055085)

GO Molecular Function (3): glucose-6-phosphate transmembrane transporter activity (GO:0015152), glucose 6-phosphate:phosphate antiporter activity (GO:0061513), transmembrane transporter activity (GO:0022857)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endomembrane system (GO:0012505), organelle membrane (GO:0031090)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Glycogen storage diseases	1
Glucose metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane transport	2
cellular anatomical structure	2
hexose metabolic process	1
glucose metabolic process	1
hexose biosynthetic process	1
hexose phosphate transport	1
phosphate ion transport	1
carbohydrate homeostasis	1
leukocyte homeostasis	1
myeloid cell homeostasis	1
hematopoietic progenitor cell differentiation	1
energy reserve metabolic process	1
glucan metabolic process	1
monocarboxylic acid metabolic process	1
acylglycerol metabolic process	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
response to nutrient levels	1
response to chemical	1
lipid metabolic process	1
response to hexose	1
granulocyte chemotaxis	1
neutrophil migration	1
negative regulation of cytokine production	1
chemokine production	1
regulation of chemokine production	1
post-embryonic development	1
hemopoiesis	1
sterol homeostasis	1
metabolic process	1
transport	1
cellular process	1
hexose phosphate transmembrane transporter activity	1
glucose-6-phosphate transport	1
glucose-6-phosphate transmembrane transporter activity	1
hexose-phosphate:phosphate antiporter activity	1
transporter activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC37A4	G6PC1	P35575	972
SLC37A4	G6PC3	Q9BUM1	893
SLC37A4	G6PC2	Q9NQR9	825
SLC37A4	SLC17A3	O00476	799
SLC37A4	CSF3	P09919	716
SLC37A4	FXYD2	P54710	654
SLC37A4	GYS2	P54840	642
SLC37A4	AGL	P35573	592
SLC37A4	PHKB	Q93100	576
SLC37A4	JAGN1	Q8N5M9	571
SLC37A4	GBE1	Q04446	550
SLC37A4	GCG	P01275	530
SLC37A4	SLC20A1	Q8WUM9	526
SLC37A4	PHKA2	P46019	513
SLC37A4	PHKG2	P11800	507

IntAct

21 interactions, top by confidence:

A	B	Type	Score
SLC37A4	BIK	psi-mi:“MI:0915”(physical association)	0.560
VTN	HAT1	psi-mi:“MI:0914”(association)	0.530
EVA1B	NRP1	psi-mi:“MI:0914”(association)	0.530
SLC37A4	ZNRF2	psi-mi:“MI:0915”(physical association)	0.400
SLC37A4	GPR35	psi-mi:“MI:0915”(physical association)	0.370
LRRK2		psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
ARL3	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
EVA1B	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ASPH	POTEF	psi-mi:“MI:0914”(association)	0.350
SLC37A4	KLK10	psi-mi:“MI:0914”(association)	0.350
HAVCR2	LGALS8	psi-mi:“MI:0914”(association)	0.350
SLC37A4	PGRMC1	psi-mi:“MI:0914”(association)	0.350
P/V	ESYT2	psi-mi:“MI:0914”(association)	0.350
TCTN3	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
BUD13	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
SLC37A4	BIK	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (65): SLC37A4 (Proximity Label-MS), SLC37A4 (PCA), SLC37A4 (Two-hybrid), SLC37A4 (Affinity Capture-MS), SLC37A4 (Affinity Capture-MS), SLC37A4 (Proximity Label-MS), SLC37A4 (Proximity Label-MS), SLC37A4 (Two-hybrid), SLC37A4 (Affinity Capture-MS), ACPP (Affinity Capture-MS), LGALS7B (Affinity Capture-MS), SDR9C7 (Affinity Capture-MS), IL36G (Affinity Capture-MS), TYMP (Affinity Capture-MS), CALML3 (Affinity Capture-MS)

ESM2 similar proteins: A1L1W9, F4IKF6, O43826, P09836, P27669, P30638, P42432, P58355, Q03411, Q0VA82, Q10R54, Q1LVS8, Q2QWW7, Q2V4B9, Q39231, Q39232, Q3E9A0, Q3TIT8, Q3U9N9, Q4LE88, Q53P54, Q53WP9, Q5F3N0, Q63564, Q640L2, Q66GI9, Q67YF8, Q6A329, Q6GPQ3, Q6NMN6, Q6PB15, Q7L1I2, Q7XJR2, Q8BG39, Q8NCC5, Q8RWQ5, Q8W0H5, Q91Y77, Q944W2, Q948L0

Diamond homologs: O43826, O84548, Q9PJJ8, Q9Z7N9, P08194, P09836, P0AGC0, P0AGC1, P0AGC2, P12681, P27669, P27670, P37948, P96335

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1143 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	88
Likely pathogenic	65
Uncertain significance	456
Likely benign	410
Benign	33

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068726	NC_000011.9:g.(?118899922)(118900089_?)del	Pathogenic
1076442	NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)	Pathogenic
1076502	NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)	Pathogenic
1076732	NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)	Pathogenic
1192881	NM_001164277.2(SLC37A4):c.786-3_787del	Pathogenic
1356284	NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter)	Pathogenic
1364508	NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)	Pathogenic
1426093	NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)	Pathogenic
1454012	NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)	Pathogenic
1454284	NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp)	Pathogenic
1460441	NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs)	Pathogenic
1514493	NM_001164277.2(SLC37A4):c.1124+1G>T	Pathogenic
188762	NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	Pathogenic
189028	NM_001164277.2(SLC37A4):c.381+1G>A	Pathogenic
189162	NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)	Pathogenic
2011304	NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)	Pathogenic
2073022	NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)	Pathogenic
2103538	NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)	Pathogenic
2104175	NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)	Pathogenic
2107823	NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)	Pathogenic
2113017	NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)	Pathogenic
2633101	NM_001164277.2(SLC37A4):c.1035dup (p.Ile346fs)	Pathogenic
2678949	NM_001164277.2(SLC37A4):c.986-1G>C	Pathogenic
2678951	NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)	Pathogenic
2678955	NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)	Pathogenic
2678958	NM_001164277.2(SLC37A4):c.872-7_873dup	Pathogenic
2678959	NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)	Pathogenic
2678960	NM_001164277.2(SLC37A4):c.1124+1G>A	Pathogenic
2701036	NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)	Pathogenic
2707017	NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)	Pathogenic

SpliceAI

1506 predictions. Top by Δscore:

Variant	Effect	Δscore
11:119025073:CCCA:C	acceptor_gain	1.0000
11:119025074:CCA:C	acceptor_gain	1.0000
11:119025074:CCAC:C	acceptor_gain	1.0000
11:119025075:CA:C	acceptor_gain	1.0000
11:119025075:CAC:C	acceptor_gain	1.0000
11:119025077:C:CC	acceptor_gain	1.0000
11:119025186:CTTA:C	donor_loss	1.0000
11:119025187:TTAC:T	donor_loss	1.0000
11:119025188:TACC:T	donor_loss	1.0000
11:119025189:A:AC	donor_gain	1.0000
11:119025189:AC:A	donor_gain	1.0000
11:119025189:ACCAT:A	donor_loss	1.0000
11:119025190:C:CC	donor_gain	1.0000
11:119025190:C:G	donor_loss	1.0000
11:119025190:CC:C	donor_gain	1.0000
11:119025190:CCA:C	donor_gain	1.0000
11:119025190:CCATT:C	donor_gain	1.0000
11:119025325:CAGAG:C	acceptor_gain	1.0000
11:119025327:GAG:G	acceptor_gain	1.0000
11:119025328:AG:A	acceptor_gain	1.0000
11:119025330:C:CA	acceptor_loss	1.0000
11:119025330:C:CC	acceptor_gain	1.0000
11:119025331:T:A	acceptor_loss	1.0000
11:119025334:C:CT	acceptor_gain	1.0000
11:119025335:A:T	acceptor_gain	1.0000
11:119025962:ATTAC:A	donor_loss	1.0000
11:119025963:TTA:T	donor_loss	1.0000
11:119025964:TA:T	donor_loss	1.0000
11:119025966:C:A	donor_loss	1.0000
11:119026076:CCCGC:C	acceptor_gain	1.0000

AlphaMissense

2773 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:119025298:C:T	G339D	0.999
11:119026646:C:T	G276D	0.999
11:119027842:A:G	W138R	0.999
11:119027842:A:T	W138R	0.999
11:119028413:G:C	S54R	0.999
11:119028413:G:T	S54R	0.999
11:119028415:T:G	S54R	0.999
11:119025021:C:A	W393C	0.998
11:119025021:C:G	W393C	0.998
11:119025256:G:T	A353D	0.998
11:119025265:C:T	G350E	0.998
11:119025299:C:G	G339R	0.998
11:119025311:C:G	G335R	0.998
11:119025311:C:T	G335R	0.998
11:119026619:T:A	D285V	0.998
11:119026619:T:G	D285A	0.998
11:119026620:C:G	D285H	0.998
11:119026647:C:G	G276R	0.998
11:119026983:C:A	W246C	0.998
11:119026983:C:G	W246C	0.998
11:119026985:A:G	W246R	0.998
11:119026985:A:T	W246R	0.998
11:119027822:G:C	S144R	0.998
11:119027822:G:T	S144R	0.998
11:119027824:T:G	S144R	0.998
11:119027872:A:G	W128R	0.998
11:119027872:A:T	W128R	0.998
11:119028243:C:T	G111D	0.998
11:119028386:G:C	S63R	0.998
11:119028386:G:T	S63R	0.998

dbSNP variants (sampled 300 via entrez): RS1000346411 (11:119031135 A>G), RS1000752335 (11:119027345 C>A,T), RS1000813730 (11:119027502 C>A,T), RS1000893817 (11:119024149 A>C,G), RS1000904054 (11:119030997 C>A), RS1000934875 (11:119031317 A>G), RS1001128485 (11:119024503 A>C), RS1001275176 (11:119027950 A>C,T), RS1001301633 (11:119025969 TG>T), RS1001358569 (11:119029724 T>C), RS1001455492 (11:119032575 C>T), RS1001885292 (11:119032832 G>A), RS1002063026 (11:119030324 C>A,T), RS1002277452 (11:119026849 G>C,T), RS1002489604 (11:119031531 T>C)

Disease associations

OMIM: gene MIM:602671 | disease phenotypes: MIM:232220, MIM:232240, MIM:619525, MIM:232200, MIM:300755, MIM:613148, MIM:615607, MIM:615615, MIM:615617

GenCC curated gene-disease

Disease	Classification	Inheritance
glycogen storage disease Ib	Definitive	Autosomal recessive
congenital disorder of glycosylation, type IIw	Definitive	Autosomal dominant
glycogen storage disease type 1 due to SLC37A4 mutation	Definitive	Autosomal recessive

Mondo (14): glycogen storage disease Ib (MONDO:0009288), congenital disorder of glycosylation, type IIw (MONDO:0030437), congenital disorder of glycosylation (MONDO:0015286), glycogen storage disease I (MONDO:0002413), glycogen storage disease due to glucose-6-phosphatase deficiency type IA (MONDO:0009287), disorder of glycogen metabolism (MONDO:0002412), glycogen storage disease type 1 due to SLC37A4 mutation (MONDO:0023258), neutropenia (MONDO:0001475), leukopenia (MONDO:0003785), immunodeficiency disease (MONDO:0021094), inflammatory bowel disease 28 (MONDO:0013153), combined immunodeficiency due to CD3gamma deficiency (MONDO:0014276), immunodeficiency 18 (MONDO:0014278), immunodeficiency 19 (MONDO:0014280)

Orphanet (7): Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364), Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (Orphanet:79259), Congenital disorder of glycosylation (Orphanet:137), Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (Orphanet:79258), Glycogen storage disease (Orphanet:79201), Combined immunodeficiency due to CD3gamma deficiency (Orphanet:169082), Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome (Orphanet:238569)

HPO phenotypes

145 total (30 of 145 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000105	Enlarged kidney
HP:0000121	Nephrocalcinosis
HP:0000132	Menorrhagia
HP:0000147	Polycystic ovaries
HP:0000155	Oral ulcer
HP:0000230	Gingivitis
HP:0000275	Narrow face
HP:0000293	Full cheeks
HP:0000295	Doll-like facies
HP:0000307	Pointed chin
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000403	Recurrent otitis media
HP:0000421	Epistaxis
HP:0000430	Underdeveloped nasal alae
HP:0000445	Wide nose
HP:0000486	Strabismus
HP:0000660	Lipemia retinalis
HP:0000670	Carious teeth
HP:0000696	Delayed eruption of permanent teeth
HP:0000704	Periodontitis

GWAS associations

0 associations (top):

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125
D006008	Glycogen Storage Disease	C16.320.565.202.449; C18.452.648.202.449
D005953	Glycogen Storage Disease Type I	C16.320.565.202.449.448; C18.452.648.202.449.448
D007970	Leukopenia	C15.378.243.750; C15.378.553.546
D009503	Neutropenia	C15.378.243.750.184.564; C15.378.553.546.184.564
C536831	Glucose-6-phosphate translocase deficiency (supp.)
C562594	Glycogen Storage Disease IB (supp.)
C538655	Hepatorenal form of glycogen storage disease (supp.)
C567728	Inflammatory Bowel Disease 28, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3217398 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC37 family of phosphosugar/phosphate exchangers

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
S-4048	Inhibition	8.7	pIC50

ChEMBL bioactivities

14 potent at pChembl≥5 of 21 total, top 14 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.70	IC50	2	nM	CHEMBL236247
8.52	IC50	3	nM	CHEMBL236247
8.30	IC50	5	nM	MUMBAISTATIN
7.10	IC50	80	nM	CHEMBL3218305
6.89	IC50	130	nM	CHEMBL3218306
6.68	IC50	210	nM	CHEMBL3218302
6.48	IC50	330	nM	CHEMBL3218303
6.29	Kd	514.8	nM	CHEMBL5653589
6.29	ED50	514.8	nM	CHEMBL5653589
5.80	IC50	1600	nM	CHEMBL3218304
5.60	IC50	2500	nM	CHEMBL32476
5.60	IC50	2500	nM	CHEMBL237508
5.60	IC50	2500	nM	CHEMBL237297
5.30	IC50	5000	nM	CHEMBL391290

PubChem BioAssay actives

6 with measured affinity, of 16 total; 6 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(1S,3R,4R,5R)-1-[[(1R,2S)-2-(4-chlorophenyl)cyclopropyl]methoxy]-3,4-dihydroxy-5-[(Z)-3-imidazo[4,5-b]pyridin-1-yl-3-phenylprop-2-enoyl]oxycyclohexane-1-carboxylic acid	299949: Inhibition of glucose 6 phosphate translocase 1	ic50	0.0030	uM
1-[2-(5-carboxy-4-hydroxypentanoyl)-6-hydroxybenzoyl]-3,8-dihydroxy-9,10-dioxoanthracene-2-carboxylic acid	299949: Inhibition of glucose 6 phosphate translocase 1	ic50	0.0050	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149421: Binding affinity to human SLC37A4 incubated for 45 mins by Kinobead based pull down assay	kd	0.5148	uM
8-hydroxy-3-methoxy-1-[(E)-2-naphthalen-1-ylethenyl]-9,10-dioxoanthracene-2-carboxylic acid	299949: Inhibition of glucose 6 phosphate translocase 1	ic50	2.5000	uM
8-hydroxy-3-methoxy-9,10-dioxo-1-[(E)-2-phenylethenyl]anthracene-2-carboxylic acid	299949: Inhibition of glucose 6 phosphate translocase 1	ic50	2.5000	uM
5,11-dihydroxy-2-naphthalen-1-yl-1,2-dihydronaphtho[3,2-f]isochromene-4,7,12-trione	299949: Inhibition of glucose 6 phosphate translocase 1	ic50	5.0000	uM

CTD chemical–gene interactions

62 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
sodium arsenite	decreases expression, increases abundance	2
Air Pollutants	affects cotreatment, affects expression, increases abundance, decreases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Smoke	decreases expression, decreases reaction	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bufotalin	decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
alpha-pinene	affects cotreatment, affects expression, increases abundance	1
bisphenol A	affects expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
benazol P	affects expression	1
methacrylaldehyde	affects cotreatment, affects expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1

ChEMBL screening assays

5 unique, capped per target: 5 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3224852	Binding	Inhibition of G6PT1 (unknown origin)	Natural product inhibitors of glucose-6-phosphate translocase — Medchemcomm

Cellosaurus cell lines

19 cell lines: 14 induced pluripotent stem cell, 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C870	GSD1-hiPSC1	Induced pluripotent stem cell	Male
CVCL_C871	GSD1-hiPSC2	Induced pluripotent stem cell	Male
CVCL_C872	GSD1-hiPSC3	Induced pluripotent stem cell	Male
CVCL_C873	GSD1-hiPSC5	Induced pluripotent stem cell	Male
CVCL_C874	GSD1-hiPSC6	Induced pluripotent stem cell	Male
CVCL_C875	GSD1-hiPSC7	Induced pluripotent stem cell	Male
CVCL_D4TC	HuH7-SLC37A4-KO-c5	Cancer cell line	Male
CVCL_D4TD	HuH7-SLC37A4-KO-c6	Cancer cell line	Male
CVCL_E1DC	Ubigene THP-1 SLC37A4 KO	Cancer cell line	Male
CVCL_E5YZ	GSDIb-iPSCs F#1	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

281 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00030758	PHASE4	UNKNOWN	Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer
NCT00125723	PHASE4	COMPLETED	FIRST - Study of Pegfilgrastim Administered in the First and Subsequent Cycles of Myelosuppressive Chemotherapy
NCT00194857	PHASE4	TERMINATED	Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin
NCT00257790	PHASE4	COMPLETED	The Tobramycin Study
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00686543	PHASE4	COMPLETED	Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115)
NCT01086878	PHASE4	COMPLETED	Safety of Cotrimoxazole in HIV- and HAART-exposed Infants
NCT01114165	PHASE4	COMPLETED	Value of the LightCycler® SeptiFast Test MGRADE for the Pathogen Detection in Neutropenic Hematological Patients
NCT01135589	PHASE4	UNKNOWN	Micafungin Prevention Study for Fungal Disease in Child Receiving Allogenic Hematopoietic Stem Cell Transplantation
NCT01571518	PHASE4	UNKNOWN	Prevention of Neutropenia After Using G-CSF With TAC Chemotherapy
NCT02621905	PHASE4	COMPLETED	Steady-State Comparative Bioavailability Study in Prophylaxis Patients of Lozanoc® 50 mg With Sporanox® 100 mg
NCT02967341	PHASE4	UNKNOWN	Blood Draw Validation for Ciprofloxacin Pharmacokinetic Research in Pediatric Cancer Patients
NCT04009941	PHASE4	COMPLETED	Efficacy and Safety of 4.5mg PEG-rhG-CSF Per Cycle in Preventing Neutropenia After Intensive Chemotherapy for Breast Cancer
NCT04904614	PHASE4	COMPLETED	Letermovir Use in Heart Transplant Recipients
NCT05626530	PHASE4	RECRUITING	Letermovir for Secondary Prophylaxis in Solid Organ Transplant Recipients
NCT06145321	PHASE4	ACTIVE_NOT_RECRUITING	Continuous Versus Bolus Administration of G-CSF in Children With Cancer
NCT00001542	PHASE4	COMPLETED	Fluconazole Prophylaxis of Thrush in AIDS
NCT00144157	PHASE4	COMPLETED	Open Label Study of NVP+CBV Treatment in Women Who Have Received sdNVP for the pMTCT of HIV
NCT00162643	PHASE4	UNKNOWN	PI Vs. NNRTI Based Therapy for HIV Advanced Disease
NCT00273988	PHASE4	COMPLETED	Pharmacokinetic Study of Interaction Between Nevirapine and Methadone in HIV-1 Infected, Opioid-dependent Adults
NCT00981318	PHASE4	TERMINATED	Pilot Assessment of Lopinavir/Ritonavir and Maraviroc
NCT01090102	PHASE4	COMPLETED	Mesalamine to Reduce T Cell Activation in HIV Infection
NCT01147042	PHASE4	TERMINATED	Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
NCT01230580	PHASE4	UNKNOWN	Protease Inhibitor Monotherapy Versus Ongoing Triple-therapy in the Long Term Management of HIV Infection (PIVOT)
NCT01465958	PHASE4	COMPLETED	Pharmacokinetics, Safety, and Tolerability of Subcutaneous GAMUNEX-C in Pediatric Subjects With Primary Immunodeficiency
NCT02274662	PHASE4	COMPLETED	Expanded Access Protocol Thymus Transplantation
NCT02348177	PHASE4	COMPLETED	Pharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB
NCT02396979	PHASE4	COMPLETED	Intervention of HIV, Drug Use and the Criminal Justice System in Malaysia
NCT02490956	PHASE4	UNKNOWN	Diagnostic Immunization With Rabies Vaccine in Patients With PID
NCT02503293	PHASE4	COMPLETED	A Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL Administered With Two Different Delivery Devices: Injections Using Pump or Rapid Push
NCT02881437	PHASE4	COMPLETED	IgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia
NCT03033745	PHASE4	COMPLETED	Safety and Tolerability of Higher Infusion Parameters of IgPro20 (Hizentra) in Subjects With Primary Immunodeficiency (PID)
NCT03677557	PHASE4	UNKNOWN	Safety, Tolerability, Patient Satisfaction and Cost of 16.5% Subcutaneous Immunoglobulin (Cutaquig®) Treatment
NCT04192487	PHASE4	COMPLETED	Effects of Crofelemer on the Gut Microbiome in Healthy Volunteers and in HIV+ Patients With Non-Infectious Diarrhea
NCT04566692	PHASE4	COMPLETED	A Study to Evaluate IGSC 20% Biweekly Dosing in Treatment-Experienced Participants and Loading/Maintenance Dosing in Treatment-Naïve Participants With Primary Immunodeficiency
NCT05493969	PHASE4	NOT_YET_RECRUITING	Efficacy and Tolerability of DTG Plus 3TC in HIV Infected Adults With Virologically Suppression and TDF Toxicity
NCT06576024	PHASE4	COMPLETED	Immunogenicity and Safety of Inactivated Hepatitis A Vaccine in HIV-infected People
NCT06634641	PHASE4	RECRUITING	Clozapine-related Immunodeficiency in Parkinsons Disease
NCT07076446	PHASE4	ACTIVE_NOT_RECRUITING	An Open-label, Multicenter Study to Assess the Pharmacokinetics (PK), Safety, and Tolerability of Subcutaneous IgPro20 in Immunoglobulin (IG) Treatment-naïve Participants With Primary Immunodeficiency (PID)
NCT05139316	PHASE3	COMPLETED	A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)