SLC2A8
gene geneOn this page
Also known as GLUTX1GLUT8
Summary
SLC2A8 (solute carrier family 2 member 8, HGNC:13812) is a protein-coding gene on chromosome 9q33.3, encoding Solute carrier family 2, facilitated glucose transporter member 8 (Q9NY64). Insulin-regulated facilitative hexose transporter that mediates the transport of glucose and fructose.
This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene.
Source: NCBI Gene 29988 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 79 total
- Druggable target: yes
- MANE Select transcript:
NM_014580
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13812 |
| Approved symbol | SLC2A8 |
| Name | solute carrier family 2 member 8 |
| Location | 9q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GLUTX1, GLUT8 |
| Ensembl gene | ENSG00000136856 |
| Ensembl biotype | protein_coding |
| OMIM | 605245 |
| Entrez | 29988 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 16 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000373352, ENST00000373360, ENST00000373371, ENST00000419132, ENST00000419917, ENST00000423934, ENST00000430147, ENST00000439597, ENST00000451404, ENST00000477027, ENST00000484208, ENST00000484617, ENST00000485806, ENST00000489239, ENST00000610552, ENST00000954537, ENST00000954538, ENST00000954539, ENST00000954540, ENST00000954541, ENST00000954542
RefSeq mRNA: 3 — MANE Select: NM_014580
NM_001271711, NM_001271712, NM_014580
CCDS: CCDS65138, CCDS6870, CCDS75903
Canonical transcript exons
ENST00000373371 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001605426 | 127397376 | 127397538 |
| ENSE00001742537 | 127397905 | 127398111 |
| ENSE00001837271 | 127397169 | 127397286 |
| ENSE00003241087 | 127402557 | 127402753 |
| ENSE00003483158 | 127403660 | 127403803 |
| ENSE00003587449 | 127404818 | 127404991 |
| ENSE00003610568 | 127405420 | 127405565 |
| ENSE00003641012 | 127407112 | 127407898 |
| ENSE00003692257 | 127399907 | 127400006 |
| ENSE00003787809 | 127403959 | 127404067 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 95.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8646 / max 216.4301, expressed in 1677 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98601 | 8.1991 | 1613 |
| 98603 | 6.5754 | 1421 |
| 98600 | 2.2053 | 1201 |
| 98602 | 0.5402 | 307 |
| 98604 | 0.2949 | 149 |
| 98605 | 0.0275 | 4 |
| 98606 | 0.0222 | 3 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 95.86 | gold quality |
| right testis | UBERON:0004534 | 95.59 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.73 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.64 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.63 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.31 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.41 | gold quality |
| testis | UBERON:0000473 | 93.26 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.55 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.21 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.07 | gold quality |
| adrenal gland | UBERON:0002369 | 91.78 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.45 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.34 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.59 | gold quality |
| cerebellum | UBERON:0002037 | 90.55 | gold quality |
| sperm | CL:0000019 | 90.26 | gold quality |
| right coronary artery | UBERON:0001625 | 90.22 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.82 | gold quality |
| amygdala | UBERON:0001876 | 89.72 | gold quality |
| muscle of leg | UBERON:0001383 | 89.62 | gold quality |
| endocervix | UBERON:0000458 | 89.38 | gold quality |
| transverse colon | UBERON:0001157 | 89.28 | gold quality |
| apex of heart | UBERON:0002098 | 89.19 | gold quality |
| spinal cord | UBERON:0002240 | 89.17 | gold quality |
| body of stomach | UBERON:0001161 | 89.13 | gold quality |
| ectocervix | UBERON:0012249 | 89.02 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.98 | gold quality |
| male germ cell | CL:0000015 | 88.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting SLC2A8, 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-6505-3P | 99.34 | 67.39 | 1071 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-591 | 96.29 | 68.16 | 611 |
| HSA-MIR-99A-3P | 92.55 | 62.10 | 99 |
| HSA-MIR-99B-3P | 92.55 | 62.30 | 99 |
Literature-anchored findings (GeneRIF, showing 10)
- This carrier protein is expressed in human tissues of the testis in a gonadotropin-dependent manner. (PMID:11845330)
- The recruitment of GLUT8 to the endocytic machinery occurs via direct interaction of the dileucine motif with beta2-adaptin, and that endocytosis might be the main site at which GLUT8 is likely to be regulated. (PMID:16723738)
- The expression pattern of GLUT8 is reported in newly diagnosed esophageal adenocarcinoma by means of immunohistochemistry. (PMID:19554504)
- Critical roles for novel GLUT family members highlight a therapeutic strategy entailing selective GLUT inhibition to specifically target aberrant glucose metabolism in cancer. (PMID:22452979)
- SLC2A8 is upregulated in fast progressing Alzheimer’s disease patients, compared to slow progressors. (PMID:23234877)
- GLUT8 is thus essential for hepatocyte fructose transport and fructose-induced macrosteatosis. (PMID:24519932)
- The findings support the hypothesis of the transport of intravascularGLUT8 through the epithelial cells of the choroid plexus and the ependymal cells. (PMID:27160096)
- glucose/fructose is transported into the cytoplasm of vimentin- or GFAP-positive astrocytic and CD68- or HLA-DR-positive microglial cells located around the lateral ventricle (PMID:27818355)
- these data suggest that cytoplasmic trehalose access is carrier-mediated, and that GLUT8 is a mammalian trehalose transporter required for hepatocyte trehalose-induced autophagy and signal transduction. (PMID:27922102)
- Humanin (HN) and glucose transporter 8 (GLUT8) in pregnancies complicated by intrauterine growth restriction (PMID:29590129)
Cross-species orthologs
37 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc2a8 | ENSDARG00000104278 |
| mus_musculus | Slc2a8 | ENSMUSG00000026791 |
| rattus_norvegicus | Slc2a8 | ENSRNOG00000022274 |
| drosophila_melanogaster | Glut3 | FBGN0015230 |
| drosophila_melanogaster | sut4 | FBGN0028560 |
| drosophila_melanogaster | sut3 | FBGN0028561 |
| drosophila_melanogaster | sut2 | FBGN0028562 |
| drosophila_melanogaster | sut1 | FBGN0028563 |
| drosophila_melanogaster | CG4607 | FBGN0029932 |
| drosophila_melanogaster | CG15406 | FBGN0031517 |
| drosophila_melanogaster | CG8837 | FBGN0031520 |
| drosophila_melanogaster | CG3285 | FBGN0031522 |
| drosophila_melanogaster | CG15408 | FBGN0031523 |
| drosophila_melanogaster | CG7882 | FBGN0033047 |
| drosophila_melanogaster | Tret1-2 | FBGN0033644 |
| drosophila_melanogaster | CG8249 | FBGN0034045 |
| drosophila_melanogaster | CG6484 | FBGN0034247 |
| drosophila_melanogaster | nebu | FBGN0036316 |
| drosophila_melanogaster | CG14606 | FBGN0037485 |
| drosophila_melanogaster | CG14605 | FBGN0037486 |
| drosophila_melanogaster | CG6901 | FBGN0038414 |
| drosophila_melanogaster | CG17929 | FBGN0038415 |
| drosophila_melanogaster | CG17930 | FBGN0038416 |
| drosophila_melanogaster | Tret1-1 | FBGN0050035 |
| drosophila_melanogaster | CG33281 | FBGN0053281 |
| drosophila_melanogaster | CG33282 | FBGN0053282 |
| caenorhabditis_elegans | WBGENE00010684 | |
| caenorhabditis_elegans | WBGENE00010811 | |
| caenorhabditis_elegans | WBGENE00012536 | |
| caenorhabditis_elegans | WBGENE00013074 | |
| caenorhabditis_elegans | WBGENE00016431 | |
| caenorhabditis_elegans | WBGENE00017382 | |
| caenorhabditis_elegans | WBGENE00019547 | |
| caenorhabditis_elegans | WBGENE00019548 | |
| caenorhabditis_elegans | WBGENE00019549 | |
| caenorhabditis_elegans | WBGENE00019550 | |
| caenorhabditis_elegans | WBGENE00043980 |
Paralogs (13): SLC2A3 (ENSG00000059804), SLC2A9 (ENSG00000109667), SLC2A1 (ENSG00000117394), SLC2A11 (ENSG00000133460), SLC2A5 (ENSG00000142583), SLC2A12 (ENSG00000146411), SLC2A13 (ENSG00000151229), SLC2A6 (ENSG00000160326), SLC2A2 (ENSG00000163581), SLC2A14 (ENSG00000173262), SLC2A4 (ENSG00000181856), SLC2A7 (ENSG00000197241), SLC2A10 (ENSG00000197496)
Protein
Protein identifiers
Solute carrier family 2, facilitated glucose transporter member 8 — Q9NY64 (reviewed: Q9NY64)
Alternative names: Glucose transporter type 8, Glucose transporter type X1
All UniProt accessions (10): A0A087WT42, Q9NY64, H0Y7M6, Q5VVV3, Q5VVV4, Q5VVV5, Q5VVV6, Q5VVV9, Q5VVW0, Q5VVW5
UniProt curated annotations — full annotation on UniProt →
Function. Insulin-regulated facilitative hexose transporter that mediates the transport of glucose and fructose. Facilitates hepatic influx of dietary trehalose, which in turn inhibits glucose and fructose influx triggering a starvation signal and hepatic autophagy through activation of AMPK and ULK1. Also able to mediate the transport of dehydroascorbate.
Subunit / interactions. Interacts with AP2B1.
Subcellular location. Cell membrane. Cytoplasmic vesicle membrane.
Tissue specificity. Highly expressed in testis, but not in testicular carcinoma. Lower amounts present in most other tissues.
Activity regulation. Inhibited by cytochalasin B.
Induction. In testis, down-regulated by estrogen.
Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
RefSeq proteins (3): NP_001258640, NP_001258641, NP_055395* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003663 | Sugar/inositol_transpt | Family |
| IPR005828 | MFS_sugar_transport-like | Family |
| IPR005829 | Sugar_transporter_CS | Conserved_site |
| IPR020846 | MFS_dom | Domain |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR050549 | MFS_Trehalose_Transporter | Family |
Pfam: PF00083
Catalyzed reactions (Rhea), 4 shown:
- alpha,alpha-trehalose(in) = alpha,alpha-trehalose(out) (RHEA:17629)
- D-fructose(out) = D-fructose(in) (RHEA:60372)
- D-glucose(out) = D-glucose(in) (RHEA:60376)
- L-dehydroascorbate(out) = L-dehydroascorbate(in) (RHEA:60380)
UniProt features (36 total): topological domain 13, transmembrane region 12, binding site 4, sequence conflict 3, chain 1, short sequence motif 1, glycosylation site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NY64-F1 | 85.78 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 162; 267–268; 273; 394
Glycosylation sites (1): 349
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-189200 | Cellular hexose transport |
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| R-HSA-8856828 | Clathrin-mediated endocytosis |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425407 | SLC-mediated transmembrane transport |
| R-HSA-5653656 | Vesicle-mediated transport |
MSigDB gene sets: 163 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_CARBOHYDRATE_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_MALE_GAMETE_GENERATION, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_ORGANELLE_FISSION, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_RESPONSE_TO_INSULIN, GOBP_RESPONSE_TO_OXYGEN_LEVELS, GOCC_COATED_VESICLE, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND
GO Biological Process (9): response to hypoxia (GO:0001666), carbohydrate metabolic process (GO:0005975), male meiosis I (GO:0007141), insulin receptor signaling pathway (GO:0008286), hexose transmembrane transport (GO:0008645), fructose transmembrane transport (GO:0015755), dehydroascorbic acid transport (GO:0070837), D-glucose transmembrane transport (GO:1904659), transmembrane transport (GO:0055085)
GO Molecular Function (5): fructose transmembrane transporter activity (GO:0005353), D-glucose binding (GO:0005536), dehydroascorbic acid transmembrane transporter activity (GO:0033300), D-glucose transmembrane transporter activity (GO:0055056), transmembrane transporter activity (GO:0022857)
GO Cellular Component (7): lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), membrane (GO:0016020), clathrin-coated endocytic vesicle membrane (GO:0030669), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transmembrane transport | 1 |
| Clathrin-mediated endocytosis | 1 |
| Membrane Trafficking | 1 |
| Vesicle-mediated transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hexose transmembrane transport | 2 |
| hexose transmembrane transporter activity | 2 |
| response to stress | 1 |
| response to decreased oxygen levels | 1 |
| primary metabolic process | 1 |
| meiosis I | 1 |
| male meiotic nuclear division | 1 |
| male gamete generation | 1 |
| meiotic cell cycle | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to insulin stimulus | 1 |
| monosaccharide transmembrane transport | 1 |
| vitamin transport | 1 |
| transport | 1 |
| cellular process | 1 |
| fructose transmembrane transport | 1 |
| monosaccharide binding | 1 |
| dehydroascorbic acid transport | 1 |
| vitamin transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| cellular anatomical structure | 1 |
| clathrin-coated vesicle membrane | 1 |
| endocytic vesicle membrane | 1 |
| clathrin-coated endocytic vesicle | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
2134 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC2A8 | H7C1H1 | H7C1H1 | 777 |
| SLC2A8 | SLC5A1 | P13866 | 584 |
| SLC2A8 | INS | P01308 | 527 |
| SLC2A8 | SLC5A4 | Q9NY91 | 490 |
| SLC2A8 | SLC5A9 | Q2M3M2 | 461 |
| SLC2A8 | TREH | O43280 | 454 |
| SLC2A8 | SLC23A1 | Q9UHI7 | 433 |
| SLC2A8 | SLC5A11 | Q8WWX8 | 427 |
| SLC2A8 | SLC5A2 | P31639 | 411 |
| SLC2A8 | SLC23A2 | Q9UGH3 | 407 |
| SLC2A8 | KHK | P50053 | 399 |
| SLC2A8 | SLC50A1 | Q9BRV3 | 393 |
| SLC2A8 | SLC2A11 | Q9BYW1 | 380 |
| SLC2A8 | SLC60A2 | Q5TF39 | 377 |
| SLC2A8 | SLC22A23 | A1A5C7 | 372 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRKAG1 | PRKAB2 | psi-mi:“MI:0914”(association) | 0.940 |
| CD79A | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| DHRS9 | MFSD4B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC2A8 | BDKRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TIMM23 | PIKFYVE | psi-mi:“MI:0914”(association) | 0.350 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| MINDY2 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| KLK8 | MT-ND1 | psi-mi:“MI:0914”(association) | 0.350 |
| CHIA | TPP2 | psi-mi:“MI:0914”(association) | 0.350 |
| DHRS9 | ATP2B2 | psi-mi:“MI:0914”(association) | 0.350 |
| LAMP1 | DST | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A8 | LAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC4A | RBFOX3 | psi-mi:“MI:0914”(association) | 0.350 |
| CRISP3 | ADD2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A8 | FOLH1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A8 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A8 | AP3D1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (91): SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), AP1B1 (Two-hybrid)
ESM2 similar proteins: A4ZYQ5, A5LGM7, B4HNS1, B4QBN3, O44827, O62786, O62787, P0C6A1, P11166, P11167, P11168, P11169, P12336, P13355, P14142, P14246, P14672, P17809, P19357, P20303, P22732, P27674, P28568, P32037, P43427, P46896, P47842, P47843, P58351, P58352, P58353, P58354, P79365, Q07647, Q27994, Q5R608, Q5RET7, Q6DFR1, Q6NUB3, Q6PXP3
Diamond homologs: A0A0H2VG78, A0A1D8PH98, A9ZSY3, B4HNS1, B4QBN3, C0SPB2, F1R0H0, J9VHZ4, O04249, O23492, O34718, O52733, O62786, O62787, O65413, P0AE24, P0AE25, P0AEP1, P0AEP2, P0AGF4, P0AGF5, P11166, P11167, P11169, P12336, P13355, P14246, P15686, P15729, P17809, P23586, P27674, P30605, P30606, P32037, P39924, P45598, P46333, P46896, P47185
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1544 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:127403658:A:AG | acceptor_gain | 1.0000 |
| 9:127403659:G:GG | acceptor_gain | 1.0000 |
| 9:127403659:GA:G | acceptor_gain | 1.0000 |
| 9:127403659:GAGC:G | acceptor_gain | 1.0000 |
| 9:127403802:AGGT:A | donor_loss | 1.0000 |
| 9:127403803:GGTAA:G | donor_loss | 1.0000 |
| 9:127403804:G:C | donor_loss | 1.0000 |
| 9:127403805:T:A | donor_loss | 1.0000 |
| 9:127403954:CCCAG:C | acceptor_loss | 1.0000 |
| 9:127403955:CCA:C | acceptor_loss | 1.0000 |
| 9:127403957:A:AG | acceptor_gain | 1.0000 |
| 9:127403957:AG:A | acceptor_gain | 1.0000 |
| 9:127403958:G:GT | acceptor_gain | 1.0000 |
| 9:127403958:GG:G | acceptor_gain | 1.0000 |
| 9:127403958:GGAC:G | acceptor_gain | 1.0000 |
| 9:127403958:GGACA:G | acceptor_gain | 1.0000 |
| 9:127404065:CAGGT:C | donor_loss | 1.0000 |
| 9:127404066:AGGTG:A | donor_loss | 1.0000 |
| 9:127404067:GGTGA:G | donor_loss | 1.0000 |
| 9:127404068:G:GA | donor_loss | 1.0000 |
| 9:127404069:T:A | donor_loss | 1.0000 |
| 9:127397284:CAGGT:C | donor_loss | 0.9900 |
| 9:127397285:AGGT:A | donor_loss | 0.9900 |
| 9:127397287:G:A | donor_loss | 0.9900 |
| 9:127397288:T:G | donor_loss | 0.9900 |
| 9:127398008:T:TA | acceptor_gain | 0.9900 |
| 9:127398109:CCGGT:C | donor_loss | 0.9900 |
| 9:127398110:CGGT:C | donor_loss | 0.9900 |
| 9:127398111:GGT:G | donor_loss | 0.9900 |
| 9:127398112:G:A | donor_loss | 0.9900 |
AlphaMissense
3056 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:127397441:G:A | G41D | 0.998 |
| 9:127405422:T:C | F385L | 0.998 |
| 9:127405424:T:A | F385L | 0.998 |
| 9:127405424:T:G | F385L | 0.998 |
| 9:127397440:G:C | G41R | 0.997 |
| 9:127397458:A:C | S47R | 0.997 |
| 9:127397460:C:A | S47R | 0.997 |
| 9:127397460:C:G | S47R | 0.997 |
| 9:127404835:A:C | S332R | 0.997 |
| 9:127404837:C:A | S332R | 0.997 |
| 9:127404837:C:G | S332R | 0.997 |
| 9:127405449:T:A | W394R | 0.997 |
| 9:127405449:T:C | W394R | 0.997 |
| 9:127397441:G:T | G41V | 0.996 |
| 9:127398076:G:C | G131R | 0.996 |
| 9:127399982:G:C | G168R | 0.996 |
| 9:127403765:T:C | F277L | 0.996 |
| 9:127403767:C:A | F277L | 0.996 |
| 9:127403767:C:G | F277L | 0.996 |
| 9:127405465:A:T | E399V | 0.996 |
| 9:127398013:G:C | G110R | 0.995 |
| 9:127398014:G:A | G110D | 0.995 |
| 9:127398077:G:A | G131D | 0.995 |
| 9:127399983:G:A | G168D | 0.995 |
| 9:127405453:T:C | L395P | 0.995 |
| 9:127405506:T:C | C413R | 0.995 |
| 9:127397434:A:C | S39R | 0.994 |
| 9:127397436:C:A | S39R | 0.994 |
| 9:127397436:C:G | S39R | 0.994 |
| 9:127397452:G:C | G45R | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000251139 (9:127399945 G>A,C,T), RS1000253482 (9:127396508 C>T), RS1000553168 (9:127401183 A>G), RS1000601314 (9:127405914 C>A,T), RS1000823450 (9:127406166 A>C), RS1000962436 (9:127395844 T>A,C), RS1000987548 (9:127401530 C>T), RS1000992096 (9:127395446 C>G,T), RS1001015784 (9:127400231 C>G,T), RS1001503550 (9:127404664 A>G), RS1001950330 (9:127405631 T>C), RS1002054359 (9:127399050 G>C), RS1002394841 (9:127400658 G>A), RS1002772109 (9:127400427 G>A), RS1003066741 (9:127397989 C>T)
Disease associations
OMIM: gene MIM:605245 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001824_11 | Metabolite levels (HVA) | 5.000000e-06 |
| GCST005547_17 | Major depressive disorder | 6.000000e-06 |
| GCST006865_9 | Bipolar disorder | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005131 | HVA measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295964 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Class II transporters
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.22 | IC50 | 6000 | nM | CHEMBL4171968 |
PubChem BioAssay actives
2 with measured affinity, of 5 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| N-[[3-[2-(4-fluorophenyl)ethoxy]phenyl]methyl]-4-methoxy-N-(pyridin-4-ylmethyl)benzamide | 1501196: Antagonist activity at GLUT8 (unknown origin) assessed as reduction in 2-[3H]deoxyglucose uptake measured after 6 mins | ic50 | 6.0000 | uM |
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 3 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| 4’-methoxy-1-naphthylfenoterol | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | increases expression | 1 |
| benazol P | affects expression | 1 |
| avobenzone | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | decreases expression, increases abundance, affects cotreatment | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Zidovudine | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 1 binding, 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4132894 | Binding | Antagonist activity at GLUT8 (unknown origin) assessed as reduction in 2-[3H]deoxyglucose uptake measured after 6 mins | Development of GLUT4-selective antagonists for multiple myeloma therapy. — Eur J Med Chem |
| CHEMBL4132904 | ADMET | Antagonist activity at human GLUT8 expressed in HEK293 cells transfected with GLUT1 shRNA assessed as inhibition of [3H]2-deoxy-D-glucose uptake preincubated for 5 mins followed by [3H]2-deoxy-D-glucose addition and measured after 6 mins | Development of GLUT4-selective antagonists for multiple myeloma therapy. — Eur J Med Chem |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2FU | Abcam HeLa SLC2A8 KO | Cancer cell line | Female |
| CVCL_D4T4 | HuH7-SLC2A8-KO-c5 | Cancer cell line | Male |
| CVCL_D4T5 | HuH7-SLC2A8-KO-c6 | Cancer cell line | Male |
| CVCL_TM84 | HAP1 SLC2A8 (-) 1 | Cancer cell line | Male |
| CVCL_TM85 | HAP1 SLC2A8 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.