SLC37A2
geneOn this page
Also known as FLJ00171SPX2
Summary
SLC37A2 (solute carrier family 37 member 2, HGNC:20644) is a protein-coding gene on chromosome 11q24.2, encoding Glucose-6-phosphate exchanger SLC37A2 (Q8TED4). Inorganic phosphate and glucose-6-phosphate antiporter.
Enables glucose 6-phosphate:phosphate antiporter activity. Involved in glucose-6-phosphate transport and phosphate ion transmembrane transport. Located in endoplasmic reticulum membrane.
Source: NCBI Gene 219855 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 90 total
- MANE Select transcript:
NM_001145290
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20644 |
| Approved symbol | SLC37A2 |
| Name | solute carrier family 37 member 2 |
| Location | 11q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ00171, SPX2 |
| Ensembl gene | ENSG00000134955 |
| Ensembl biotype | protein_coding |
| OMIM | 619136 |
| Entrez | 219855 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000308074, ENST00000354617, ENST00000403796, ENST00000525837, ENST00000526405, ENST00000532000, ENST00000964167
RefSeq mRNA: 2 — MANE Select: NM_001145290
NM_001145290, NM_198277
CCDS: CCDS31714, CCDS44757
Canonical transcript exons
ENST00000403796 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000994863 | 125084234 | 125084319 |
| ENSE00002185255 | 125063305 | 125063426 |
| ENSE00003485350 | 125079112 | 125079247 |
| ENSE00003491859 | 125085395 | 125085473 |
| ENSE00003500244 | 125079684 | 125079760 |
| ENSE00003502661 | 125088119 | 125090516 |
| ENSE00003517706 | 125077450 | 125077528 |
| ENSE00003560674 | 125085066 | 125085139 |
| ENSE00003573745 | 125083815 | 125083877 |
| ENSE00003588964 | 125084825 | 125084873 |
| ENSE00003626209 | 125082244 | 125082334 |
| ENSE00003628185 | 125080614 | 125080780 |
| ENSE00003641030 | 125076757 | 125076838 |
| ENSE00003675059 | 125085954 | 125086018 |
| ENSE00003687249 | 125081421 | 125081458 |
| ENSE00003688651 | 125077230 | 125077323 |
| ENSE00003689212 | 125085577 | 125085674 |
| ENSE00003691583 | 125081754 | 125081906 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 94.98.
FANTOM5 (CAGE): breadth broad, TPM avg 9.7923 / max 265.7821, expressed in 738 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117430 | 6.5905 | 558 |
| 117428 | 1.3331 | 237 |
| 117427 | 1.2332 | 265 |
| 117429 | 0.3182 | 138 |
| 117434 | 0.2053 | 107 |
| 117426 | 0.1119 | 32 |
Top tissues by expression
236 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 94.98 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.64 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.23 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.79 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.06 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.74 | gold quality |
| adrenal gland | UBERON:0002369 | 91.96 | gold quality |
| skin of leg | UBERON:0001511 | 91.35 | gold quality |
| monocyte | CL:0000576 | 90.92 | gold quality |
| leukocyte | CL:0000738 | 90.87 | gold quality |
| upper arm skin | UBERON:0004263 | 90.78 | gold quality |
| granulocyte | CL:0000094 | 90.08 | gold quality |
| parotid gland | UBERON:0001831 | 89.82 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 89.69 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 89.28 | gold quality |
| minor salivary gland | UBERON:0001830 | 89.03 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.61 | gold quality |
| zone of skin | UBERON:0000014 | 88.18 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.95 | silver quality |
| kidney epithelium | UBERON:0004819 | 87.58 | gold quality |
| mouth mucosa | UBERON:0003729 | 87.49 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.05 | gold quality |
| spleen | UBERON:0002106 | 86.61 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.28 | gold quality |
| vermiform appendix | UBERON:0001154 | 86.10 | gold quality |
| vena cava | UBERON:0004087 | 85.67 | silver quality |
| caecum | UBERON:0001153 | 84.82 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 81.41 | gold quality |
| rectum | UBERON:0001052 | 81.10 | gold quality |
| penis | UBERON:0000989 | 80.86 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 16.77 |
| E-ANND-3 | yes | 8.89 |
| E-MTAB-5061 | no | 3.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
78 targeting SLC37A2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-4804-3P | 99.65 | 67.78 | 866 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
Literature-anchored findings (GeneRIF, showing 2)
- Data show that SLC37A1 and SLC37A2 are endoplasmic reticulum associated, P(i)-linked antiporters, that can transport glucose-6-phosphate. (PMID:21949678)
- Using both living fish embryos and mammalian macrophages, we show that processing depends on the shrinkage and packaging of phagosomes into a unique cellular compartment, the gastrosome, with distinct molecular and ultra-structural characteristics. Loss of the transporter Slc37a2 blocks phagosomal shrinkage, resulting in the expansion of the gastrosome and the dramatic bloating of the cell. (PMID:30880002)
Cross-species orthologs
37 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc37a2 | ENSDARG00000023394 |
| mus_musculus | Slc37a2 | ENSMUSG00000032122 |
| drosophila_melanogaster | dmGlut | FBGN0010497 |
| drosophila_melanogaster | Picot | FBGN0024315 |
| drosophila_melanogaster | CG9254 | FBGN0028513 |
| drosophila_melanogaster | CG6978 | FBGN0029727 |
| drosophila_melanogaster | VGlut | FBGN0031424 |
| drosophila_melanogaster | MFS16 | FBGN0034611 |
| caenorhabditis_elegans | WBGENE00001135 | |
| caenorhabditis_elegans | WBGENE00007669 | |
| caenorhabditis_elegans | WBGENE00008677 | |
| caenorhabditis_elegans | WBGENE00010755 | |
| caenorhabditis_elegans | WBGENE00010931 | |
| caenorhabditis_elegans | WBGENE00011185 | |
| caenorhabditis_elegans | WBGENE00011556 | |
| caenorhabditis_elegans | WBGENE00012443 | |
| caenorhabditis_elegans | WBGENE00015271 | |
| caenorhabditis_elegans | WBGENE00015272 | |
| caenorhabditis_elegans | WBGENE00016003 | |
| caenorhabditis_elegans | WBGENE00018429 | |
| caenorhabditis_elegans | WBGENE00018918 | |
| caenorhabditis_elegans | WBGENE00018920 | |
| caenorhabditis_elegans | WBGENE00019187 | |
| caenorhabditis_elegans | WBGENE00019655 | |
| caenorhabditis_elegans | WBGENE00020583 | |
| caenorhabditis_elegans | WBGENE00020584 | |
| caenorhabditis_elegans | WBGENE00020697 | |
| caenorhabditis_elegans | WBGENE00020698 | |
| caenorhabditis_elegans | WBGENE00020699 | |
| caenorhabditis_elegans | WBGENE00020700 | |
| caenorhabditis_elegans | WBGENE00021157 | |
| caenorhabditis_elegans | WBGENE00021158 | |
| caenorhabditis_elegans | WBGENE00021219 | |
| caenorhabditis_elegans | WBGENE00021220 | |
| caenorhabditis_elegans | WBGENE00021223 | |
| caenorhabditis_elegans | WBGENE00021226 | |
| caenorhabditis_elegans | WBGENE00302978 |
Paralogs (12): SLC17A6 (ENSG00000091664), SLC17A9 (ENSG00000101194), SLC17A7 (ENSG00000104888), SLC17A2 (ENSG00000112337), SLC17A5 (ENSG00000119899), SLC17A3 (ENSG00000124564), SLC17A1 (ENSG00000124568), SLC37A4 (ENSG00000137700), SLC17A4 (ENSG00000146039), SLC37A3 (ENSG00000157800), SLC37A1 (ENSG00000160190), SLC17A8 (ENSG00000179520)
Protein
Protein identifiers
Glucose-6-phosphate exchanger SLC37A2 — Q8TED4 (reviewed: Q8TED4)
Alternative names: Solute carrier family 37 member 2
All UniProt accessions (2): Q8TED4, E9PRJ4
UniProt curated annotations — full annotation on UniProt →
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.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Detected in intestine and pancreas. Lower expression is also detected in liver and kidney.
Activity regulation. Inhibited by vanadate but not by chlorogenic acid.
Similarity. Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TED4-1 | 1 | yes |
| Q8TED4-2 | 2 | |
| Q8TED4-3 | 3 | |
| Q8TED4-4 | 4 |
RefSeq proteins (2): NP_001138762, NP_938018 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000849 | Sugar_P_transporter | Family |
| IPR011701 | MFS | Family |
| IPR020846 | MFS_dom | Domain |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR044740 | SLC37A1_2 | Family |
Pfam: PF07690
Catalyzed reactions (Rhea), 1 shown:
- D-glucose 6-phosphate(in) + phosphate(out) = D-glucose 6-phosphate(out) + phosphate(in) (RHEA:71535)
UniProt features (24 total): transmembrane region 12, splice variant 4, glycosylation site 3, sequence variant 2, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9UCM | ELECTRON MICROSCOPY | 3.2 |
| 9UDW | ELECTRON MICROSCOPY | 3.5 |
| 9UDV | ELECTRON MICROSCOPY | 3.6 |
| 9UDX | ELECTRON MICROSCOPY | 3.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TED4-F1 | 84.05 | 0.54 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (3): 53, 62, 68
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-70263 | Gluconeogenesis |
MSigDB gene sets: 191 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_INORGANIC_ANION_TRANSPORT, TGACCTY_ERR1_Q2, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_PHOSPHATE_ION_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, REACTOME_GLUCONEOGENESIS, AML1_01, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOBP_CARBOHYDRATE_DERIVATIVE_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, TGACCTTG_SF1_Q6, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK
GO Biological Process (3): glucose-6-phosphate transport (GO:0015760), phosphate ion transmembrane transport (GO:0035435), transmembrane transport (GO:0055085)
GO Molecular Function (3): glucose 6-phosphate:phosphate antiporter activity (GO:0061513), antiporter activity (GO:0015297), transmembrane transporter activity (GO:0022857)
GO Cellular Component (5): endoplasmic reticulum membrane (GO:0005789), extracellular exosome (GO:0070062), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), organelle membrane (GO:0031090)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glucose metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transmembrane transport | 2 |
| hexose phosphate transport | 1 |
| phosphate ion transport | 1 |
| transport | 1 |
| cellular process | 1 |
| glucose-6-phosphate transmembrane transporter activity | 1 |
| hexose-phosphate:phosphate antiporter activity | 1 |
| secondary active transmembrane transporter activity | 1 |
| transporter activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| extracellular vesicle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| membrane | 1 |
| membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
792 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC37A2 | FNIP1 | Q8TF40 | 459 |
| SLC37A2 | PKNOX2 | Q96KN3 | 429 |
| SLC37A2 | RALGPS2 | Q86X27 | 387 |
| SLC37A2 | ARHGEF1 | Q92888 | 387 |
| SLC37A2 | SLK | Q9H2G2 | 353 |
| SLC37A2 | ARHGEF11 | O15085 | 336 |
| SLC37A2 | PGBD4 | Q96DM1 | 325 |
| SLC37A2 | TMEM217 | Q8N7C4 | 324 |
| SLC37A2 | ESRP1 | Q6NXG1 | 323 |
| SLC37A2 | PTPRM | P28827 | 314 |
| SLC37A2 | FXYD4 | P59646 | 313 |
| SLC37A2 | NBEA | Q8NFP9 | 312 |
| SLC37A2 | SCRIB | Q14160 | 299 |
| SLC37A2 | SPATA2L | Q8IUW3 | 287 |
| SLC37A2 | VSTM4 | Q8IW00 | 286 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC37A2 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (94): SLC37A2 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCB6 (Affinity Capture-MS), ACSL4 (Affinity Capture-MS), ACVR1B (Affinity Capture-MS), ADCY3 (Affinity Capture-MS), AGPAT2 (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ANKRD13D (Affinity Capture-MS), ATP13A2 (Affinity Capture-MS), ATP8A1 (Affinity Capture-MS), BMPR1A (Affinity Capture-MS), BROX (Affinity Capture-MS), CA2 (Affinity Capture-MS), CBR1 (Affinity Capture-MS)
ESM2 similar proteins: A0A3Q2HW92, A6NDV4, A6NFX1, D2HKB0, D3ZVU9, F1NCD6, F1NJ67, F1PZV2, O09014, Q0IHM1, Q0P5M9, Q14728, Q14CX5, Q3T9M1, Q3U481, Q3UGX3, Q58CT4, Q58CV5, Q5JZQ7, Q5VTY9, Q66H95, Q6AY78, Q6NUT3, Q6PDE8, Q6UXD7, Q6W5G4, Q6ZMD2, Q7RTT9, Q80T22, Q8BFQ6, Q8CE47, Q8IVW8, Q8N697, Q8NA29, Q8R139, Q8TED4, Q8VCW4, Q8VCY8, Q8WUG5, Q91VM4
Diamond homologs: O23596, P57057, Q17QZ3, Q3TIT8, Q58CV5, Q5F3N0, Q5M7K3, Q640L2, Q7SY29, Q8AVC3, Q8NCC5, Q8R070, Q8TED4, Q9C5L3, Q9SA71, Q9SB41, Q9SL56, Q9WU81, P42205, P9WG86, P9WG87
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
90 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2538 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:125076752:TGCA:T | acceptor_loss | 1.0000 |
| 11:125076753:GCA:G | acceptor_loss | 1.0000 |
| 11:125076755:A:AG | acceptor_gain | 1.0000 |
| 11:125076756:G:GG | acceptor_gain | 1.0000 |
| 11:125076817:G:GT | donor_gain | 1.0000 |
| 11:125076836:AAGGT:A | donor_loss | 1.0000 |
| 11:125076839:GTGA:G | donor_loss | 1.0000 |
| 11:125076840:T:G | donor_loss | 1.0000 |
| 11:125077225:TCCA:T | acceptor_loss | 1.0000 |
| 11:125077226:CCA:C | acceptor_loss | 1.0000 |
| 11:125077227:CA:C | acceptor_loss | 1.0000 |
| 11:125077228:A:AG | acceptor_gain | 1.0000 |
| 11:125077229:G:A | acceptor_loss | 1.0000 |
| 11:125077229:G:GG | acceptor_gain | 1.0000 |
| 11:125077229:GA:G | acceptor_gain | 1.0000 |
| 11:125077229:GAGCC:G | acceptor_gain | 1.0000 |
| 11:125077322:TGGTA:T | donor_loss | 1.0000 |
| 11:125077324:G:GG | donor_gain | 1.0000 |
| 11:125077324:GTA:G | donor_loss | 1.0000 |
| 11:125077325:T:G | donor_loss | 1.0000 |
| 11:125077438:A:AG | acceptor_gain | 1.0000 |
| 11:125077438:ATCT:A | acceptor_gain | 1.0000 |
| 11:125077439:T:G | acceptor_gain | 1.0000 |
| 11:125077441:T:A | acceptor_gain | 1.0000 |
| 11:125077446:TCA:T | acceptor_loss | 1.0000 |
| 11:125077448:A:AG | acceptor_gain | 1.0000 |
| 11:125077448:A:C | acceptor_loss | 1.0000 |
| 11:125077449:G:GC | acceptor_gain | 1.0000 |
| 11:125077449:GA:G | acceptor_gain | 1.0000 |
| 11:125077449:GAC:G | acceptor_gain | 1.0000 |
AlphaMissense
3284 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:125080636:T:A | W184R | 1.000 |
| 11:125080636:T:C | W184R | 1.000 |
| 11:125082269:T:C | L304P | 1.000 |
| 11:125076816:G:T | R40M | 0.999 |
| 11:125076827:A:C | S44R | 0.999 |
| 11:125076829:T:A | S44R | 0.999 |
| 11:125076829:T:G | S44R | 0.999 |
| 11:125077494:T:C | F94L | 0.999 |
| 11:125077496:C:A | F94L | 0.999 |
| 11:125077496:C:G | F94L | 0.999 |
| 11:125079693:G:A | G154R | 0.999 |
| 11:125079693:G:C | G154R | 0.999 |
| 11:125079694:G:A | G154E | 0.999 |
| 11:125079714:T:A | W161R | 0.999 |
| 11:125079714:T:C | W161R | 0.999 |
| 11:125079716:G:C | W161C | 0.999 |
| 11:125079716:G:T | W161C | 0.999 |
| 11:125080619:G:A | G178E | 0.999 |
| 11:125080630:G:C | G182R | 0.999 |
| 11:125080657:G:C | G191R | 0.999 |
| 11:125080658:G:A | G191D | 0.999 |
| 11:125080658:G:T | G191V | 0.999 |
| 11:125080662:C:A | N192K | 0.999 |
| 11:125080662:C:G | N192K | 0.999 |
| 11:125080669:G:C | G195R | 0.999 |
| 11:125080705:T:A | W207R | 0.999 |
| 11:125080705:T:C | W207R | 0.999 |
| 11:125080707:G:C | W207C | 0.999 |
| 11:125080707:G:T | W207C | 0.999 |
| 11:125082256:T:C | F300L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000043552 (11:125090907 G>C), RS1000171968 (11:125072333 C>T), RS1000241969 (11:125087431 C>T), RS1000253636 (11:125075926 C>T), RS1000284828 (11:125076092 A>G,T), RS1000369880 (11:125082082 G>A), RS1000422192 (11:125082463 T>A,C), RS1000581577 (11:125064288 G>A,T), RS1000723031 (11:125066657 A>G), RS1000808860 (11:125077210 A>G), RS1000847089 (11:125086501 G>A), RS1001071904 (11:125066377 C>T), RS1001177763 (11:125070793 A>G), RS1001549313 (11:125063274 A>AT), RS1001580370 (11:125063091 G>C,T)
Disease associations
OMIM: gene MIM:619136 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002861_2 | Breast cancer (survival) | 1.000000e-09 |
| GCST006979_233 | Heel bone mineral density | 7.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000714 | survival time |
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC37 family of phosphosugar/phosphate exchangers
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 4 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| Tobacco Smoke Pollution | increases expression, affects expression, decreases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| perfluorooctane sulfonic acid | increases expression | 2 |
| Arsenic | increases abundance, affects cotreatment, increases expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | increases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| lead acetate | increases expression | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| diallyl trisulfide | increases expression | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nickel | decreases expression | 1 |
| Nicotine | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Progesterone | decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4F8 | 1321N1-SLC37A2-KO-c3 | Cancer cell line | Male |
| CVCL_D4F9 | 1321N1-SLC37A2-KO-c7 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): estrogen-receptor negative breast cancer