SLC37A4
solute carrier family 37 member 4, the group of Solute carrier family 37
Basic information
Region (hg38): 11:119023751-119030906
Previous symbols: [ "G6PT1", "G6PT2", "G6PT3" ]
Links
Phenotypes
GenCC
Source:
- glycogen storage disease type 1 due to SLC37A4 mutation (Definitive), mode of inheritance: AR
- glycogen storage disease Ib (Strong), mode of inheritance: AR
- glycogen storage disease Ib (Strong), mode of inheritance: AR
- glycogen storage disease Ib (Strong), mode of inheritance: AR
- glycogen storage disease Ib (Strong), mode of inheritance: AR
- glycogen storage disease Ib (Definitive), mode of inheritance: AR
- congenital disorder of glycosylation, type IIw (Strong), mode of inheritance: AD
- glycogen storage disease Ib (Strong), mode of inheritance: AR
- congenital disorder of glycosylation, type IIw (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Glycogen storage disease Ib; Glycogen storage disease Ic; Glycogen storage disease Id; Congenital disorder of glycosylation, type IIw | AR | Allergy/Immunology/Infectious; Biochemical; Cardiovascular; Gastrointestinal; Oncologic; Renal | In Glycogen storage disease, dietary measures can be beneficial allow optimal glucose levels and promote growth and development (additionally, specific carbohydrate sources should be limited); Allopurinol to prevent gout and lipid-lowering medications to prevent hyperlipidemia may be necessary when dietary therapy is ineffective; Citrate supplementation and ACE inhibitors may help prevent development of decrease renal complications, though renal transplant may ultimately be necessary; Surveillance for and treatment of hepatic neoplasms (including liver transplant in some) can be beneficial; G-CSF may be beneficial due to recurrent infections; Individuals with Congenital disorder of glycosylation, type IIw have been described to have hepatic dysfunction, including involving coagulopathy, as well as congenital cardiac anomalies requiring surgical interventions, and awareness may allow early diagnosis and management | Allergy/Immunology/Infectious; Biochemical; Cardiovascular; Craniofacial; Gastrointestinal; Musculoskeletal; Oncologic; Renal | 4300573; 212064; 6928812; 6578929; 6298622; 6309784; 3860000; 3459848; 3464427; 2311631; 1719175; 1375344; 8319729; 273986; 8758135; 9428641; 9758626; 9686363; 10931421; 12576310; 20301489; 21575371; 21599942; 21629566; 31536830; 32884905; 33728255; 33964207 |
ClinVar
This is a list of variants' phenotypes submitted to
- Glucose-6-phosphate transport defect (6 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC37A4 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Highest pathogenic variant AF is 0.00000657142
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SLC37A4 | protein_coding | protein_coding | ENST00000357590 | 10 | 6793 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000167 | 0.970 | 377 | 124265 | 0 | 124642 | 0.945 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.00226 | 249 | 249 | 1.00 | 0.0000132 | 2868 |
| Missense in Polyphen | 65 | 75.078 | 0.86577 | 848 | ||
| Synonymous | -0.455 | 104 | 98.3 | 1.06 | 0.00000508 | 929 |
| Loss of Function | 1.98 | 11 | 20.7 | 0.531 | 9.83e-7 | 224 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 2.00 | 1.94 |
| Ashkenazi Jewish | 1.00 | 0.949 |
| East Asian | 1.00 | 0.968 |
| Finnish | 1.00 | 0.964 |
| European (Non-Finnish) | 1.00 | 0.937 |
| Middle Eastern | 1.00 | 0.968 |
| South Asian | 1.00 | 0.955 |
| Other | 1.00 | 0.945 |
dbNSFP
Source:
- Function
- 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. {ECO:0000269|PubMed:10026167, ECO:0000269|PubMed:21949678}.;
- Disease
- DISEASE: 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. {ECO:0000269|PubMed:10482962, ECO:0000269|PubMed:9758626}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:9758626}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Carbohydrate digestion and absorption - Homo sapiens (human);Mitochondrial Electron Transport Chain;Gluconeogenesis;Glycogenosis, Type IA. Von gierke disease;Glycogenosis, Type IC;Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease;Triosephosphate isomerase;Fructose-1,6-diphosphatase deficiency;Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1);Glycogenosis, Type IB;Metabolism of carbohydrates;Metabolism;Phosphatidylinositol phosphate metabolism;Gluconeogenesis;Glucose metabolism
(Consensus)
Recessive Scores
- pRec
- 0.325
Haploinsufficiency Scores
- pHI
- 0.215
- hipred
- N
- hipred_score
- 0.306
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.367
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc37a4
- Phenotype
- hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- glucose metabolic process;gluconeogenesis;carbohydrate transport;glucose-6-phosphate transport;phosphate ion transmembrane transport
- Cellular component
- endoplasmic reticulum;endoplasmic reticulum membrane;membrane;integral component of membrane;integral component of endoplasmic reticulum membrane
- Molecular function
- transporter activity;glucose-6-phosphate transmembrane transporter activity;glucose 6-phosphate:inorganic phosphate antiporter activity