Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2542
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 37 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC37A4
Synonyms (NCBI Gene) Gene synonyms aliases
CDG2W, G6PT, G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, PRO0685, SPX4, TRG-19, TRG19
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602671 4061 ENSG00000137700
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Glucose-6-Phosphate Transport Defect glucose-6-phosphate transport defect rs1447366650, rs193302890, rs1592109970, rs551439289, rs1943672400, rs1555190745, rs782630676, rs193302893, rs1592111112, rs786204637, rs121908978, rs1555190956, rs1182102272, rs193302888, rs1943557200
View all (50 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital disorder of glycosylation congenital disorder of glycosylation, type IIw N/A N/A GenCC
Glycogen Storage Disease Glycogen storage disease, type I, glycogen storage disease type 1 due to SLC37A4 mutation, glycogen storage disease Ib, glycogen storage disease due to glucose-6-phosphatase deficiency type ia N/A N/A ClinVar, GenCC
Associations from Text Mining Disease 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