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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC37A4 Gene

protein-coding GIFtS: 60
GCID: GC11M118894

solute carrier family 37 (glucose-6-phosphate transporter),...

(Previous names: glucose-6-phosphatase, transport (glucose-6-phosphate)...)
(Previous symbols: G6PT1, G6PT2, G6PT3)

Explore 13 diseases affiliated with
SLC37A4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 37 (Glucose-6-Phosphate Transporter), Member 4¹ ²		Solute Carrier Family 37 Member 4² ³
G6PT1¹ ² ³ ⁵		Transformation-Related Gene 19 Protein² ³
G6PT2¹ ²		TRG-19² ³
G6PT3¹ ²		TRG19²
GSD1b¹ ²		Glucose-6-Phosphatase, Transport (Glucose) Protein 3²
GSD1c¹ ²		Glucose-6-Phosphatase, Transport (Phosphate/Pyrophosphate) Protein 2²
GSD1d¹ ²		Glucose-6-Phosphate Translocase²
Glucose-6-Phosphatase, Transport (Glucose-6-Phosphate) Protein 1¹ ²		Microsomal Glucose-6-Phosphate Transporter²
Glucose-5-Phosphate Transporter² ³		G6PT³

External Ids:	HGNC: 4061¹	Entrez Gene: 2542²	Ensembl: ENSG00000137700⁷	OMIM: 602671⁵	UniProtKB: O43826³

Export aliases for SLC37A4 gene to outside databases

Previous GC identifers: GC11M118928 GC11M118432 GC11M118400 GC11M114834

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC37A4:

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.(provided by RefSeq, Aug 2009)

UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826

Function: Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. 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

Gene Wiki entry for SLC37A4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC37A4 gene promoter:
GR NF-1/L NF-1 AREB6 MZF-1 S8 Nkx6-1 Ik-2 FOXJ2 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC37A4 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC37A4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC37A4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23.3

SLC37A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC37A4 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M118894: view genomic region (about GC identifiers)

Start:	118,894,824 bp from pter	End:	118,901,616 bp from pter
Size:	6,793 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826 (See protein sequence)

Recommended Name: Glucose-6-phosphate translocase

Size: 429 amino acids; 46360 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAF16691.1; Type=Frameshift; Positions=128;

Secondary accessions: O96016 Q5J7V4 Q9UI19 Q9UNS4

Alternative splicing: 2 isoforms: O43826-1 O43826-2

Explore the universe of human proteins at neXtProt for SLC37A4: NX_O43826

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43826

SLC37A4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001157749.1 NP_001157750.1 NP_001157751.1 NP_001157752.1 NP_001458.1

Reactome Protein details: O43826
Human Recombinant Protein Products for SLC37A4:

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	Uscn Proteins for SLC37A4

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	NAS	212064
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016021	integral to membrane	NAS	9428641
GO:0030176	integral to endoplasmic reticulum membrane	IDA	10318794

SLC37A4 for ontologies About GeneDecksing

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Assay Products for SLC37A4:

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	Uscn ELISAs and CLIAs for SLC37A4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC37A4 for domains About GeneDecksing

5 InterPro domains/families:

IPR000849 Sugar_P_transporter

IPR021159 Sugar-P_transporter_CS

IPR020846 MFS_dom

IPR011701 MFS

IPR016196 MFS_dom_general_subst_transpt

Graphical View of Domain Structure for InterPro Entry O43826

ProtoNet protein and cluster: O43826

1 Blocks protein family: IPB000849 GlpT transporter

UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: G6PT1_HUMAN, O43826

Function: Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. 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

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	NAS	9428641
GO:0015152	glucose-6-phosphate transmembrane transporter activity	IMP	12560945

SLC37A4 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SLC37A4:

Decreased number of cells in m

11 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc37a4):

behavior/neurological	cellular	growth/size	hematopoietic system	homeostasis/metabolism
immune system	liver/biliary system	mortality/aging	nervous system	renal/urinary system
skeleton

SLC37A4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Slc37a4^tm1Jyc for SLC37A4

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC37A4

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		SwitchGear 3'UTR luciferase reporter plasmid: SLC37A4 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC37A4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycolysis and gluconeogenesis (short map)

Glycolysis and gluconeogenesis (short map)

1.00

Glycolysis and gluconeogenesis (short map)

0.97

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus

Glucose transport

0.57

Hexose transport

0.55

Carbohydrate digestion and absorption

Carbohydrate digestion and absorption

1.00

Metabolism

Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for SLC37A4

Glycolysis and gluconeogenesis (short map)

1 GeneGo (Thomson Reuters) Pathway for SLC37A4

Glycolysis and gluconeogenesis (short map)

5/6 Reactome Pathways for SLC37A4 (see all 6)

	Metabolism of carbohydrates
	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Hexose transport
	Metabolism

1 Kegg Pathway (Kegg details for SLC37A4):

Carbohydrate digestion and absorption

SLC37A4 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC37A4

1 Interacting protein for SLC37A4 (O43826³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CLN3	Q13286³	I2D: score=1

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006006	glucose metabolic process	NAS	9428641
GO:0006810	transport	NAS	9428641
GO:0008645	hexose transport	TAS	--
GO:0015758	glucose transport	TAS	--

SLC37A4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC37A4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC37A4

1 HMDB Compound for SLC37A4 About this table

Compound	Synonyms	CAS #	PubMed Ids
Glucose 6-phosphate	D(+)-Glucopyranose 6-phosphate (see all 11)	56-73-5	--

5 Novoseek chemical compound relationships for SLC37A4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose 6-phosphate	90.2	90	14597389 (4), 15757503 (4), 12444104 (2), 10518030 (2) (see all 50)
glycogen	82.9	46	12444104 (2), 15059622 (2), 11560776 (2), 19008136 (2) (see all 32)
glucose	43.2	26	11439108 (2), 17478431 (2), 10966570 (1), 14597389 (1) (see all 14)
uric acid	14.8	1	17478431 (1)
lactate	0	1	17478431 (1)

Search CenterWatch for drugs/clinical trials and news about SLC37A4 / G6PT1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC37A4 gene (5 alternative transcripts):

NM_001164277.1 NM_001164278.1 NM_001164279.1 NM_001164280.1 NM_001467.5

Unigene Cluster for SLC37A4:

Solute carrier family 37 (glucose-6-phosphate transporter), member 4

Hs.719203 [show with all ESTs]

Unigene Representative Sequence: NM_001164277

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000525102(uc010rys.1 uc001pus.2) ENST00000526275 ENST00000532085(uc009zan.2)

ENST00000527992 ENST00000530407 ENST00000525372 ENST00000524428 ENST00000525039

ENST00000529510 ENST00000532888 ENST00000526626 ENST00000525787 ENST00000534384

ENST00000545985 ENST00000357590(uc010ryr.1) ENST00000330775 ENST00000456881

ENST00000538950(uc010ryt.1)

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		hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-181a-2* hsa-let-7g hsa-let-7a hsa-miR-3649 hsa-miR-3121-3p

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Additional cDNA sequence:

AF110819.1 AF110820.1 AF110822.1 AK289642.1 AK294993.1 AK298395.1 AK300646.1 AK312628.1

AY423732.1 BC002400.2 BC003589.1 BC014663.1 BC015650.2 BC064563.1 CR456733.1 Y15409.1

21 DOTS entries:

DT.100813372 DT.87015757 DT.75186682 DT.100813365 DT.100813384 DT.100813375 DT.100813382 DT.99957831

DT.120718637 DT.100656842 DT.100716949 DT.100813381 DT.100813367 DT.91753134 DT.100712750 DT.100813362

DT.100813380 DT.100813383 DT.120718633 DT.95348392 DT.95321256

24/1351 AceView cDNA sequences (see all 1351):

H65339 BQ883232 BU688404 F26167 CA432553 AI347383 CR606876 BQ683181

BM475764 BQ279036 F25912 BQ684548 AI271938 BM997463 F26876 AI937643

F36343 AJ710105 F29833 BQ642802 Z44529 BE273167 AJ574097 AA480536

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SLC37A4 (see all 8) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12a	·	12b
SP1:											-		-														-				-
SP2:											-		-														-
SP3:											-		-																		-
SP4:											-		-												-		-				-
SP5:																											-				-

ECgene alternative splicing isoforms for SLC37A4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC37A4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCAATGTGG

About this image

SLC37A4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Hindlimb Ventral Muscle

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SLC37A4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC37A4

SOURCE GeneReport for Unigene cluster: Hs.719203

UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826

Tissue specificity: Mostly expressed in liver and kidney

SABiosciences Custom PCR Arrays for SLC37A4

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC37A4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SLC37A4 gene from 5/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Slc37a4^{1 , 5}	solute carrier family 37 (glucose-6-phosphate transporter), more^{1, 5}	87.33(n)¹ 93.01(a)¹	9 (24.84 cM)⁵ 14385¹ NM_008063.2¹ NP_032089.2¹ 44398176⁵
chicken (Gallus gallus)	Aves	SLC37A4¹	solute carrier family 37 (glucose-6-phosphate transporter), more	75.45(n) 81.59(a)	419789 XM_001233001.1 XP_001233002.1
African clawed frog (Xenopus laevis)	Amphibia	MGC68695²	hypothetical protein MGC68695	77.82(n)	BC060486.1
zebrafish (Danio rerio)	Actinopterygii	zgc55871²	similar to glucose-6-phosphatase, transport (glucose-6-phosphate) more	76.57(n)	393914 BC045479.1
worm (Caenorhabditis elegans)	Secernentea	C42C1.16¹	hypothetical protein	40.51(n) 28.1(a)	259879 NM_069937.1 NP_502338.1

ENSEMBL Gene Tree for SLC37A4 (if available)
TreeFam Gene Tree for SLC37A4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80356489^1,2	C	pathogenic	118535425(-)	`TGGGCC/TGGCCC`	10	R W	mis¹		0	--	--	--	--
rs80356492^1,2	C	pathogenic	118538432(-)	`CCCACA/GCCATT`	10	T A	mis¹		0	--	--	--	--
rs75036896^1,2	C	--	114834221(+)	`GCTGAT/CTTCCT`	5	--	ds500¹		2		CSA WA	120
rs77314616^1,2	F	--	114834475(+)	`TGTTAC/AACTTC`	5	--	ds500¹		1		WA	118
rs112350979^1,2		--	114834672(+)	`TGACAA/GTATTT`	5	--	ds500¹		2		CSA WA	120
rs11006^1,2	C,F,O,A,H	--	114834861(+)	`CAGTCA/GCCCAC`	5	--	ut3¹ ese³		27		MN EA NS NA CSA WA	4442
rs2276072^1,2	C	--	114835774(-)	`AGCCTT/CCTTCT`	5	--	int¹ trp³		4		CSA WA NA EA	360
rs2276071^1,2	C	--	114835775(-)	`AAGCCT/GTCTTC`	5	--	int¹ trp³		4		CSA WA NA EA	360
rs74536648^1,2	C	--	114835789(+)	`CCCCAG/CAAACA`	5	--	int¹		1		WA	2
rs75212035^1,2	C	--	114835790(+)	`CCCAGG/AAACAA`	5	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for SLC37A4 (118894824 - 118901616 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC37A4: --
Human Gene Mutation Database (HGMD): SLC37A4

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC37A4 for disorders           About GeneDecksing

OMIM gene information: 602671
OMIM disorders: 232220  232240
UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826

Defects in SLC37A4 are the cause of glycogen storage disease type 1B (GSD1B) [MIM:232220]. GSD1B is a

metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. GSD1 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. GSD1B patients also present a tendency towards infections associated with neutropenia, relapsing

aphthous gingivostomatitis, and inflammatory bowel disease

Defects in SLC37A4 are the cause of glycogen storage disease type 1C (GSD1C) [MIM:232240]

Defects in SLC37A4 are the cause of glycogen storage disease type 1D (GSD1D) [MIM:232240]

13 diseases for SLC37A4: About MalaCards

glycogen storage disease glycogen storage disease type 1b glycogen storage disease ic glycogen storage disease ib

sudden infant death syndrome metabolic disorders neutropenia hyperlipidemia

renal cell carcinoma glioblastoma adenoma carcinoma

hepatitis

3 diseases from the University of Copenhagen DISEASES database for SLC37A4:

Glycogen storage disease Neutropenia Hypoglycemia

8 Novoseek disease relationships for SLC37A4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease	95.7	43	12444104 (2), 15059622 (2), 11560776 (2), 19008136 (2) (see all 31)
glycogen storage disease type i	89	2	11899241 (1), 19541498 (1)
neutropenia	68.3	6	16435186 (2), 9822626 (1), 17478431 (1), 11032333 (1)
hepatomegaly	62.3	1	11032333 (1)
hypoglycemia	50.8	3	17354259 (1), 17478431 (1)
hyperlipidemia	42.9	1	17478431 (1)
metabolic disorder	35.9	3	11560776 (1), 15888252 (1), 11899241 (1)
bacterial infections	21.3	1	9822626 (1)

GeneTests: SLC37A4

Glycogen Storage Disease Type I

Genetic Association Database (GAD): SLC37A4
Human Genome Epidemiology (HuGE) Navigator: SLC37A4 (2 documents)

Export disorders for SLC37A4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SLC37A4 gene, integrated from 9 sources (see all 87):
(articles sorted by number of sources associating them with SLC37A4)

Utopia: connect your pdf to the dynamic
world of online information

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. (PubMed id 9428641)^{1, 2, 3} Gerin I....van Schaftingen E. (1997)
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. (PubMed id 15059622)^{1, 2, 9} Kojima K....Matsubara Y. (2004)
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (PubMed id 12409273)^{1, 2, 9} Yuen Y.-P....Lam C.-W. (2002)
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. (PubMed id 10923042)^{1, 2, 9} Santer R....Schneppenheim R. (2000)
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (PubMed id 10518030)^{1, 2, 9} Galli L.... Sorrentino V. (1999)
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PubMed id 10026167)^{1, 2, 9} Hiraiwa H.... Chou J.Y. (1999)
Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. (PubMed id 10482875)^{1, 2, 9} Hou D.-C.... Narisawa K. (1999)
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. (PubMed id 15906092)^{1, 4, 9} Melis D....Benedetti A. (2005)
Type I glycogen storage diseases: disorders of the glucose-6- phosphatase complex. (PubMed id 11949931)^{1, 2, 9} Chou J.Y.... Chen Y.-T. (2002)
Glycogen storage disease type Ib without neutropenia. (PubMed id 10931421)^{1, 2, 9} Kure S.... Narisawa K. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2542	HGNC: 4061	AceView: RPS25	Ensembl:ENSG00000137700	euGenes: HUgn2542
ECgene: SLC37A4	Kegg: 2542	H-InvDB: SLC37A4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SLC37A4	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC37A4

Intellectual Property for SLC37A4 gene
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Patent Information for SLC37A4 gene:
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GeneCards and IP:
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SLC37A4 Gene

solute carrier family 37 (glucose-6-phosphate transporter),...

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