Gene Gene information from NCBI Gene database.
Entrez ID 2542
Gene name Solute carrier family 37 member 4
Gene symbol SLC37A4
Synonyms (NCBI Gene)
CDG2WG6PTG6PT1G6PT2G6PT3GSD1bGSD1cGSD1dPRO0685SPX4TRG-19TRG19
Chromosome 11
Chromosome location 11q23.3
Summary 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.
SNPs SNP information provided by dbSNP.
62
SNP ID Visualize variation Clinical significance Consequence
rs80356489 A>G Pathogenic, not-provided Missense variant, coding sequence variant
rs80356490 C>A Pathogenic Missense variant, coding sequence variant
rs80356491 AG>- Pathogenic, likely-pathogenic Frameshift variant, coding sequence variant
rs121908975 C>A,T Pathogenic Coding sequence variant, stop gained, missense variant
rs121908976 C>T Likely-pathogenic, uncertain-significance, pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
228
miRTarBase ID miRNA Experiments Reference
MIRT046702 hsa-miR-222-3p CLASH 23622248
MIRT041504 hsa-miR-193b-3p CLASH 23622248
MIRT508337 hsa-miR-1272 PAR-CLIP 20371350
MIRT508336 hsa-miR-1322 PAR-CLIP 20371350
MIRT508334 hsa-miR-3682-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005783 Component Endoplasmic reticulum NAS 212064
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 10318794, 21949678, 33964207
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602671 4061 ENSG00000137700
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43826
Protein name Glucose-6-phosphate exchanger SLC37A4 (Glucose-5-phosphate transporter) (Glucose-6-phosphate translocase) (Solute carrier family 37 member 4) (Transformation-related gene 19 protein) (TRG-19)
Protein 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 (PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 17 381 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: Mostly expressed in liver and kidney.
Sequence
Sequence length 429
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Carbohydrate digestion and absorption   Glycogen storage disease type Ib (SLC37A4)
Gluconeogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1230
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital disorder of glycosylation Likely pathogenic; Pathogenic rs2134626266 RCV001543403
Congenital disorder of glycosylation, type IIw Likely pathogenic; Pathogenic rs2134626266, rs80356491, rs1943672400, rs121908978, rs121908979, rs121908980, rs1447366650, rs1182102272, rs193302883, rs193302893, rs193302881, rs193302882, rs193302903 RCV001647389
RCV002279712
RCV002496291
RCV002482839
RCV002496292
RCV002482840
RCV002499185
RCV002501021
RCV002483116
RCV005357433
RCV002504976
RCV002477207
RCV002498349
Glucose-6-phosphate transport defect Likely pathogenic; Pathogenic rs2134633880, rs2134640168, rs2134626765, rs2134631619, rs1943618079, rs2134626266, rs2134633858, rs782612223, rs2134635160, rs2134639714, rs2134637643, rs1001301633, rs2134644045, rs2134638421, rs2134631242
View all (132 more)
RCV001379469
RCV001378593
RCV001390356
RCV001390446
RCV001390723
RCV002506653
RCV003617930
RCV001733377
RCV001806737
RCV001960556
RCV001939454
RCV001992358
RCV001905428
RCV002000174
RCV001993152
RCV001876688
RCV001929223
RCV002048277
RCV001951598
RCV002282846
RCV002287549
RCV000169082
RCV000169570
RCV000169418
RCV000169589
RCV002835308
RCV002829400
RCV002881115
RCV002967550
RCV003017524
RCV003027110
RCV003031249
RCV003022200
RCV003043819
RCV003040942
RCV000007330
RCV000007331
RCV000007332
RCV000007333
RCV000007336
RCV000169480
RCV000007342
RCV000007343
RCV000007344
RCV000007345
RCV000007346
RCV000007347
RCV000007348
RCV003444046
RCV003472925
RCV003472926
RCV003472927
RCV003472928
RCV003472929
RCV003472931
RCV003472932
RCV003472934
RCV003472935
RCV003472936
RCV003472937
RCV003472938
RCV003472939
RCV003472940
RCV003472941
RCV003472942
RCV003472943
RCV003472944
RCV003472945
RCV003472921
RCV003472923
RCV003472924
RCV003507617
RCV003507694
RCV003508107
RCV003507732
RCV003507878
RCV003507911
RCV003507976
RCV003507820
RCV003618132
RCV003618186
RCV003618240
RCV003618302
RCV003618467
RCV003618505
RCV003618767
RCV003618663
RCV003618735
RCV003617461
RCV003617465
RCV003618855
RCV004573641
RCV004573642
RCV004573643
RCV004573644
RCV004573645
RCV004573646
RCV000505570
RCV000578424
RCV000634550
RCV000666410
RCV000668254
RCV000664487
RCV000668312
RCV000672116
RCV000670809
RCV000674565
RCV000672809
RCV000666518
RCV000665324
RCV000674005
RCV000669975
RCV000672097
RCV000668230
RCV000665873
RCV000673099
RCV000707348
RCV000781849
RCV000781850
RCV000807219
RCV000802697
RCV000820470
RCV000806503
RCV000810201
RCV000811087
RCV000812333
RCV000984945
RCV005092965
RCV003617796
RCV001854231
RCV001390447
RCV001204831
RCV000794844
RCV001854232
RCV001824595
RCV000169286
RCV000699431
RCV000169003
RCV003474641
RCV000634548
RCV000673809
RCV001388583
RCV003474642
RCV001050145
RCV001043799
RCV001068592
RCV001036141
RCV001174784
RCV001174813
RCV001192958
RCV001237077
RCV001247672
RCV001230044
RCV001260430
RCV001269152
RCV001283783
RCV001293643
Glycogen storage disease Pathogenic; Likely pathogenic rs80356490, rs80356491, rs1943676862 RCV005638401
RCV000601076
RCV005638542
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs73559195, rs79849261 RCV005914800
RCV005886838
Gastric cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs79849261, rs201036248 RCV005886841
RCV005893547
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Benign rs61730035 RCV001274000
Hepatocellular carcinoma Uncertain significance rs1555190938 RCV005901444
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Associate 33280276
Anodontia Associate 27197745
Blood Coagulation Disorders Associate 33964207
Brain Neoplasms Associate 38034009
Carcinoma Hepatocellular Associate 33964207
Communicable Diseases Associate 9463334
Congenital Disorders of Glycosylation Associate 33964207
Genetic Diseases Inborn Associate 33964207
Gerstmann Straussler Scheinker Disease Associate 31508908
Glioblastoma Associate 38034009