SLC37A2
protein-codingsolute carrier family 37 member 2, the group of Solute carrier family 37
Gene summary
Enables glucose 6-phosphate:phosphate antiporter activity. Involved in glucose-6-phosphate transport and phosphate ion transmembrane transport. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~27.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SLC37A2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001145290.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 3 | 5 | |||
| missense | 60 | 4 | 64 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 65 | 7 | 0 | 72 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001138762.1 | 18 | MANE Select | |
| Ensembl | ENSP00000384407.3 | 18 | MANE Select | |
| RefSeq | NP_938018.1 | 18 | Standard | |
| Ensembl | ENSP00000311833.4 | 18 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vitamin D Receptor Pathway
- Metabolism of carbohydrates
- Metabolism
- Gluconeogenesis
- Glucose metabolism
Biological Process
- carbohydrate transport
- glucose-6-phosphate transport
- phosphate ion transmembrane transport
Molecular Function
- glucose 6-phosphate:inorganic phosphate antiporter activity
Cellular Component
- endoplasmic reticulum membrane
- integral component of endoplasmic reticulum membrane
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000308074
- Coding exons
- 18
- Length
- 26169
- Individuals with no LoFs
- 125599
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 148
- Defined
- 125748
- p
- 0.000593
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.674 | 269 | 302 | 0.891 | 0.0000173 | 3276 |
| Missense (PolyPhen) | 94 | 97.719 | 0.96194 | 1047 | ||
| Synonymous | -0.242 | 134 | 130 | 1.03 | 0.00000873 | 1012 |
| Loss of Function | 1.02 | 25 | 31.1 | 0.803 | 0.00000151 | 337 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00032 | 0.00031 | rare |
| Latino/Admixed American | 0.00038 | 0.00038 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00033 | 0.00033 | rare |
| Finnish | 0.0018 | 0.0018 | notable |
| European (Non-Finnish) | 0.00070 | 0.00066 | rare |
| South Asian | 0.00033 | 0.00033 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6- phosphatase. May not play a role in homeostatic regulation of blood glucose levels. {ECO:0000269|PubMed:21949678}.;
Recessive Scores
- pRec
- 0.116
Intolerance Scores
- LoFtool
- 0.946
- RVIS EVS
- 0.05
- RVIS percentile EVS
- 57.48
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.225
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |