SLC2A6
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Also known as GLUT9GLUT6HSA011372
Summary
SLC2A6 (solute carrier family 2 member 6, HGNC:11011) is a protein-coding gene on chromosome 9q34.2, encoding Solute carrier family 2, facilitated glucose transporter member 6 (Q9UGQ3). Probable sugar transporter that acts as a regulator of glycolysis in macrophages.
Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.
Source: NCBI Gene 11182 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cardiomyopathy (Limited, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 95 total
- MANE Select transcript:
NM_017585
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11011 |
| Approved symbol | SLC2A6 |
| Name | solute carrier family 2 member 6 |
| Location | 9q34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GLUT9, GLUT6, HSA011372 |
| Ensembl gene | ENSG00000160326 |
| Ensembl biotype | protein_coding |
| OMIM | 606813 |
| Entrez | 11182 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 18 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000371897, ENST00000371899, ENST00000414172, ENST00000432868, ENST00000485978, ENST00000888406, ENST00000888407, ENST00000888408, ENST00000917277, ENST00000917278, ENST00000917279, ENST00000917280, ENST00000917281, ENST00000917282, ENST00000949324, ENST00000949325, ENST00000949326, ENST00000949327, ENST00000949328
RefSeq mRNA: 2 — MANE Select: NM_017585
NM_001145099, NM_017585
CCDS: CCDS48052, CCDS6975
Canonical transcript exons
ENST00000371899 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001051504 | 133473980 | 133474088 |
| ENSE00001269134 | 133473415 | 133473600 |
| ENSE00001693142 | 133478254 | 133478416 |
| ENSE00001902440 | 133478968 | 133479099 |
| ENSE00003460377 | 133473105 | 133473250 |
| ENSE00003485250 | 133477035 | 133477241 |
| ENSE00003486246 | 133476237 | 133476336 |
| ENSE00003603040 | 133475400 | 133475611 |
| ENSE00003662123 | 133474961 | 133475113 |
| ENSE00003847282 | 133471094 | 133472176 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 93.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2218 / max 411.6961, expressed in 1686 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103012 | 15.3749 | 1571 |
| 103013 | 5.2273 | 1538 |
| 103010 | 0.3942 | 171 |
| 103011 | 0.2254 | 113 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 93.39 | gold quality |
| monocyte | CL:0000576 | 92.35 | gold quality |
| leukocyte | CL:0000738 | 91.97 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.88 | gold quality |
| frontal cortex | UBERON:0001870 | 86.39 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.01 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.52 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 85.38 | gold quality |
| blood | UBERON:0000178 | 85.32 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.31 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 84.99 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.78 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.32 | gold quality |
| hypothalamus | UBERON:0001898 | 83.72 | gold quality |
| spleen | UBERON:0002106 | 83.71 | gold quality |
| substantia nigra | UBERON:0002038 | 82.12 | gold quality |
| Ammon’s horn | UBERON:0001954 | 81.12 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 80.38 | gold quality |
| brain | UBERON:0000955 | 80.34 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 80.31 | gold quality |
| putamen | UBERON:0001874 | 80.20 | gold quality |
| vermiform appendix | UBERON:0001154 | 79.72 | gold quality |
| lymph node | UBERON:0000029 | 79.38 | gold quality |
| temporal lobe | UBERON:0001871 | 79.18 | gold quality |
| cortical plate | UBERON:0005343 | 79.12 | gold quality |
| amygdala | UBERON:0001876 | 78.97 | gold quality |
| apex of heart | UBERON:0002098 | 78.85 | gold quality |
| cerebellum | UBERON:0002037 | 78.76 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 78.70 | gold quality |
| cerebellar cortex | UBERON:0002129 | 78.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 5.15 |
| E-ANND-3 | no | 1.95 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting SLC2A6, 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-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-3191-3P | 99.45 | 63.94 | 356 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-6882-3P | 98.23 | 67.01 | 1119 |
| HSA-MIR-1914-5P | 97.83 | 66.21 | 807 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
| HSA-MIR-3620-5P | 97.42 | 63.95 | 792 |
| HSA-MIR-1587 | 96.95 | 64.03 | 932 |
| HSA-MIR-3139 | 96.68 | 66.77 | 652 |
| HSA-MIR-642B-5P | 96.37 | 67.26 | 745 |
Literature-anchored findings (GeneRIF, showing 3)
- The expression pattern of GLUT9 is reported in newly diagnosed esophageal adenocarcinoma by means of immunohistochemistry. (PMID:19554504)
- The NF-kappaB signalling pathway regulates GLUT6 expression in endometrial cancer. (PMID:32512041)
- SREBP2/Rab11s/GLUT1/6 network regulates proliferation and migration of glioblastoma. (PMID:36327817)
Cross-species orthologs
45 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc2a6 | ENSDARG00000058731 |
| mus_musculus | Slc2a6 | ENSMUSG00000036067 |
| rattus_norvegicus | Slc2a6 | ENSRNOG00000005900 |
| 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 | CG14160 | FBGN0036066 |
| drosophila_melanogaster | nebu | FBGN0036316 |
| drosophila_melanogaster | CG1208 | FBGN0037386 |
| 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 | CG32053 | FBGN0052053 |
| drosophila_melanogaster | CG32054 | FBGN0052054 |
| drosophila_melanogaster | CG33281 | FBGN0053281 |
| drosophila_melanogaster | CG33282 | FBGN0053282 |
| drosophila_melanogaster | Srg2 | FBGN0262007 |
| drosophila_melanogaster | CG42826 | FBGN0262008 |
| caenorhabditis_elegans | WBGENE00008730 | |
| caenorhabditis_elegans | WBGENE00010684 | |
| caenorhabditis_elegans | WBGENE00010811 | |
| caenorhabditis_elegans | WBGENE00012536 | |
| caenorhabditis_elegans | WBGENE00013074 | |
| caenorhabditis_elegans | WBGENE00016431 | |
| caenorhabditis_elegans | WBGENE00017382 | |
| caenorhabditis_elegans | WBGENE00019207 | |
| 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), SLC2A8 (ENSG00000136856), SLC2A5 (ENSG00000142583), SLC2A12 (ENSG00000146411), SLC2A13 (ENSG00000151229), SLC2A2 (ENSG00000163581), SLC2A14 (ENSG00000173262), SLC2A4 (ENSG00000181856), SLC2A7 (ENSG00000197241), SLC2A10 (ENSG00000197496)
Protein
Protein identifiers
Solute carrier family 2, facilitated glucose transporter member 6 — Q9UGQ3 (reviewed: Q9UGQ3)
Alternative names: Glucose transporter type 6
All UniProt accessions (3): Q9UGQ3, F2Z2F6, F2Z3K7
UniProt curated annotations — full annotation on UniProt →
Function. Probable sugar transporter that acts as a regulator of glycolysis in macrophages. Does not transport glucose.
Subcellular location. Lysosome membrane.
Tissue specificity. Highly expressed in brain, spleen and peripheral blood leukocytes.
Induction. By lipopolysaccharide (LPS).
Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UGQ3-1 | 1 | yes |
| Q9UGQ3-2 | 2 |
RefSeq proteins (2): NP_001138571, NP_060055* (*=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
UniProt features (35 total): topological domain 13, transmembrane region 12, binding site 3, chain 1, region of interest 1, short sequence motif 1, modified residue 1, glycosylation site 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UGQ3-F1 | 81.69 | 0.44 |
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 (3): 174; 286–287; 418
Post-translational modifications (1): 23
Glycosylation sites (1): 370
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-189200 | Cellular hexose transport |
MSigDB gene sets: 227 (showing top):
GOBP_CARBOHYDRATE_TRANSPORT, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOCC_VACUOLAR_MEMBRANE, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, ENGELMANN_CANCER_PROGENITORS_UP, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS
GO Biological Process (6): regulation of glycolytic process (GO:0006110), hexose transmembrane transport (GO:0008645), fructose transmembrane transport (GO:0015755), transmembrane transport (GO:0055085), dehydroascorbic acid transport (GO:0070837), D-glucose transmembrane transport (GO:1904659)
GO Molecular Function (5): fructose transmembrane transporter activity (GO:0005353), transmembrane transporter activity (GO:0022857), dehydroascorbic acid transmembrane transporter activity (GO:0033300), D-glucose transmembrane transporter activity (GO:0055056), protein binding (GO:0005515)
GO Cellular Component (4): lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), membrane (GO:0016020), lysosome (GO:0005764)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transmembrane transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hexose transmembrane transport | 2 |
| hexose transmembrane transporter activity | 2 |
| glycolytic process | 1 |
| regulation of purine nucleotide catabolic process | 1 |
| regulation of generation of precursor metabolites and energy | 1 |
| regulation of carbohydrate catabolic process | 1 |
| regulation of ATP metabolic process | 1 |
| monosaccharide transmembrane transport | 1 |
| transport | 1 |
| cellular process | 1 |
| vitamin transport | 1 |
| fructose transmembrane transport | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| dehydroascorbic acid transport | 1 |
| vitamin transmembrane transporter activity | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| lytic vacuole | 1 |
Protein interactions and networks
STRING
2118 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC2A6 | H7C1H1 | H7C1H1 | 742 |
| SLC2A6 | SLC50A1 | Q9BRV3 | 453 |
| SLC2A6 | PCMTD2 | Q9NV79 | 445 |
| SLC2A6 | SLC5A4 | Q9NY91 | 436 |
| SLC2A6 | SLC5A1 | P13866 | 435 |
| SLC2A6 | PRPSAP1 | Q14558 | 433 |
| SLC2A6 | CHST10 | O43529 | 427 |
| SLC2A6 | SLC7A6 | Q92536 | 427 |
| SLC2A6 | PRDM13 | Q9H4Q3 | 393 |
| SLC2A6 | RAB11FIP5 | Q9BXF6 | 385 |
| SLC2A6 | SLC2A3 | P11169 | 384 |
| SLC2A6 | SLC16A5 | O15375 | 384 |
| SLC2A6 | NFKBIL1 | Q9UBC1 | 383 |
| SLC2A6 | SLC12A9 | Q9BXP2 | 380 |
| SLC2A6 | EARS2 | Q5JPH6 | 377 |
| SLC2A6 | SLC2A11 | Q9BYW1 | 377 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMEM14B | SLC2A6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OPALIN | BTAF1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC2A6 | CHRM5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NS3 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC2A6 | SCGB2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC10A4 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A6 | BRIX1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A6 | PSMD14 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM14B | SLC2A6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (15): SCGB1D1 (Affinity Capture-MS), LACRT (Affinity Capture-MS), SCGB2A1 (Affinity Capture-MS), SLC2A6 (Two-hybrid), SLC2A6 (Affinity Capture-MS), SLC2A6 (Proximity Label-MS), SLC2A6 (Two-hybrid), LACRT (Affinity Capture-MS), SCGB2A1 (Affinity Capture-MS), SLC2A6 (Affinity Capture-MS), SLC2A6 (Affinity Capture-MS), BCLAF1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), TMEM106B (Affinity Capture-MS), SLC2A6 (Affinity Capture-MS)
ESM2 similar proteins: A6QLW8, A7MBE0, A9CB25, B2GV36, O02713, O08966, O15244, O15245, O35956, O57379, O70577, O70594, O75751, O76082, O77504, O88446, O88909, Q1RPP5, Q3YAW7, Q4W8A2, Q5R540, Q5R5H7, Q5RLM2, Q63089, Q66J54, Q6A4L0, Q6DFR1, Q6NUB3, Q6NYN7, Q70BM6, Q80UJ1, Q863T6, Q8BXB6, Q8HY24, Q8MJI6, Q8MK48, Q8VC69, Q91WU2, Q92959, Q961J5
Diamond homologs: A0A0H2VG78, A1Z8N1, A4ZYQ5, A5LGM7, A9ZSY2, A9ZSY3, B0WC46, B3MG58, B3NSE1, B4GAP7, B4HNS0, B4HNS1, B4J913, B4KR05, B4LPX5, B4MYA4, B4P624, B4QBN2, B4QBN3, C0SPB2, O04036, O04249, O34718, O44827, O52733, O62787, P0AE24, P0AE25, P0AEP1, P0AEP2, P0C6A1, P11166, P11167, P11169, P13355, P14142, P14246, P14672, P15686, P17809
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
95 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1629 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:133473977:TAC:T | donor_loss | 1.0000 |
| 9:133473978:A:AC | donor_gain | 1.0000 |
| 9:133473978:A:AG | donor_loss | 1.0000 |
| 9:133473979:C:A | donor_loss | 1.0000 |
| 9:133473979:C:CC | donor_gain | 1.0000 |
| 9:133474084:GGGGG:G | acceptor_gain | 1.0000 |
| 9:133474085:GGGG:G | acceptor_gain | 1.0000 |
| 9:133474086:GGG:G | acceptor_gain | 1.0000 |
| 9:133474087:GG:G | acceptor_gain | 1.0000 |
| 9:133474088:GCT:G | acceptor_loss | 1.0000 |
| 9:133474089:C:A | acceptor_loss | 1.0000 |
| 9:133474089:C:CC | acceptor_gain | 1.0000 |
| 9:133474093:C:CT | acceptor_gain | 1.0000 |
| 9:133474094:G:T | acceptor_gain | 1.0000 |
| 9:133474955:TCTCA:T | donor_loss | 1.0000 |
| 9:133474956:CTCAC:C | donor_loss | 1.0000 |
| 9:133474957:TCACC:T | donor_loss | 1.0000 |
| 9:133474958:CACCA:C | donor_loss | 1.0000 |
| 9:133474959:A:AC | donor_gain | 1.0000 |
| 9:133474959:ACCA:A | donor_loss | 1.0000 |
| 9:133474960:C:CC | donor_gain | 1.0000 |
| 9:133474960:CCAG:C | donor_gain | 1.0000 |
| 9:133475109:CTGCT:C | acceptor_gain | 1.0000 |
| 9:133475112:CT:C | acceptor_gain | 1.0000 |
| 9:133475114:C:CC | acceptor_gain | 1.0000 |
| 9:133475319:T:TA | donor_gain | 1.0000 |
| 9:133477029:CCTTA:C | donor_loss | 1.0000 |
| 9:133477030:CTTA:C | donor_loss | 1.0000 |
| 9:133477031:TTA:T | donor_loss | 1.0000 |
| 9:133477032:TA:T | donor_loss | 1.0000 |
AlphaMissense
3215 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:133474004:G:T | R338S | 0.995 |
| 9:133473150:G:C | S441R | 0.994 |
| 9:133473150:G:T | S441R | 0.994 |
| 9:133473152:T:G | S441R | 0.994 |
| 9:133476260:C:T | G180E | 0.993 |
| 9:133477164:G:C | S111R | 0.993 |
| 9:133477164:G:T | S111R | 0.993 |
| 9:133477166:T:G | S111R | 0.993 |
| 9:133477069:C:T | G143D | 0.992 |
| 9:133476323:T:A | E159V | 0.991 |
| 9:133473236:A:G | W413R | 0.990 |
| 9:133473236:A:T | W413R | 0.990 |
| 9:133473238:C:T | G412D | 0.990 |
| 9:133473239:C:G | G412R | 0.990 |
| 9:133475524:G:C | S217W | 0.990 |
| 9:133476317:G:T | A161D | 0.990 |
| 9:133477132:C:T | G122D | 0.990 |
| 9:133473221:A:G | W418R | 0.989 |
| 9:133473221:A:T | W418R | 0.989 |
| 9:133473233:C:G | G414R | 0.989 |
| 9:133474061:C:G | G319R | 0.989 |
| 9:133474061:C:T | G319R | 0.989 |
| 9:133477070:C:G | G143R | 0.989 |
| 9:133478351:C:T | G53E | 0.989 |
| 9:133472120:G:C | S475R | 0.988 |
| 9:133472120:G:T | S475R | 0.988 |
| 9:133472122:T:G | S475R | 0.988 |
| 9:133473415:C:G | G408R | 0.988 |
| 9:133474995:A:G | L298P | 0.987 |
| 9:133475019:C:T | G290D | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000030934 (9:133479015 G>A), RS1000617866 (9:133475943 C>T), RS1000758339 (9:133476294 G>A), RS1000926789 (9:133475920 ATTTCT>A), RS1000959424 (9:133471570 C>G), RS1000979171 (9:133471568 G>A), RS1001252540 (9:133478732 C>T), RS1001309597 (9:133475330 C>A,T), RS1001450810 (9:133480446 G>A), RS1001483152 (9:133480245 A>G), RS1001696630 (9:133473815 C>A,G,T), RS1001747463 (9:133470943 C>T), RS1003381852 (9:133476605 G>A), RS1003699795 (9:133472700 C>G,T), RS1003959799 (9:133479251 G>C,T)
Disease associations
OMIM: gene MIM:606813 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cardiomyopathy | Limited | Autosomal dominant |
Mondo (1): cardiomyopathy (MONDO:0004994)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000123_1 | Urate levels | 2.000000e-16 |
| GCST000227_2 | Uric acid levels | 1.000000e-11 |
| GCST003854_49 | Gut microbiota (functional units) | 3.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0004761 | uric acid measurement |
| EFO:0007874 | gut microbiome measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009202 | Cardiomyopathies | C14.280.238 |
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 — Class II transporters
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | affects cotreatment, increases expression | 2 |
| Valproic Acid | decreases expression, increases expression, increases methylation | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| honokiol | decreases reaction, increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| nuciferine | increases expression, decreases reaction | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, affects response to substance | 1 |
| epigallocatechin gallate | increases expression | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| deguelin | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| thifluzamide | decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Aldehydes | increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4L8 | HCT116-SLC2A6-KO-c6 | Cancer cell line | Male |
| CVCL_D4L9 | HCT116-SLC2A6-KO-c8 | Cancer cell line | Male |
| CVCL_E0NT | Ubigene HeLa SLC2A6 KO | Cancer cell line | Female |
| CVCL_TM83 | HAP1 SLC2A6 (-) 1 | Cancer cell line | Male |
| CVCL_XT14 | HAP1 SLC2A6 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00348530 | PHASE4 | UNKNOWN | Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy |
| NCT00371891 | PHASE4 | COMPLETED | Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS) |
| NCT00401856 | PHASE4 | COMPLETED | CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone |
| NCT00559338 | PHASE4 | COMPLETED | Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department |
| NCT00606775 | PHASE4 | UNKNOWN | The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy |
| NCT00658203 | PHASE4 | COMPLETED | Clinical Evaluation on Advanced Resynchronization |
| NCT00701220 | PHASE4 | COMPLETED | Statin Therapy for Ischemic and Nonischemic Cardiomyopathy |
| NCT00800761 | PHASE4 | COMPLETED | Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major |
| NCT00806390 | PHASE4 | TERMINATED | Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol |
| NCT01006473 | PHASE4 | COMPLETED | Exercise Training in Chagas Cardiomyopathy |
| NCT01261065 | PHASE4 | COMPLETED | Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure |
| NCT01345188 | PHASE4 | COMPLETED | Ranolazine in Ischemic Cardiomyopathy |
| NCT01868841 | PHASE4 | COMPLETED | 123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System |
| NCT02640846 | PHASE4 | UNKNOWN | Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock |
| NCT03228823 | PHASE4 | UNKNOWN | Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS) |
| NCT04323852 | PHASE4 | COMPLETED | Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery? |
| NCT05034432 | PHASE4 | RECRUITING | The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients |
| NCT05718128 | PHASE4 | RECRUITING | Clinical Study of Endocardial Myocardial Biopsy |
| NCT06964464 | PHASE4 | RECRUITING | Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator |
| NCT00170183 | PHASE3 | COMPLETED | Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure |
| NCT00270387 | PHASE3 | COMPLETED | A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy |
| NCT00321295 | PHASE3 | COMPLETED | Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery |
| NCT00483197 | PHASE3 | UNKNOWN | VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial |
| NCT00490321 | PHASE3 | UNKNOWN | VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy |
| NCT00626028 | PHASE3 | COMPLETED | Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing |
| NCT01013714 | PHASE3 | UNKNOWN | Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias |
| NCT01217827 | PHASE3 | COMPLETED | Implantable Cardioverter-Defibrillator Use in the VA System |
| NCT01648634 | PHASE3 | COMPLETED | Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy |
| NCT02924285 | PHASE3 | COMPLETED | Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease |
| NCT03860935 | PHASE3 | COMPLETED | Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy |
| NCT04166331 | PHASE3 | COMPLETED | Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion |
| NCT05175066 | PHASE3 | COMPLETED | Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity |
| NCT05237323 | PHASE3 | COMPLETED | Micophenolate Mofetil Versus Azathioprine in Myocarditis |
| NCT06158698 | PHASE3 | RECRUITING | CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine |
| NCT06563895 | PHASE3 | RECRUITING | Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant |
| NCT06846086 | PHASE3 | RECRUITING | Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy |
| NCT07116473 | PHASE3 | NOT_YET_RECRUITING | To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE) |
| NCT00185250 | PHASE2 | COMPLETED | Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy |
| NCT00490347 | PHASE2 | COMPLETED | VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial |
| NCT00694161 | PHASE2 | COMPLETED | The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy |
Related Atlas pages
- Associated diseases: cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cardiomyopathy