SLC2A12
gene geneOn this page
Also known as GLUT12GLUT8
Summary
SLC2A12 (solute carrier family 2 member 12, HGNC:18067) is a protein-coding gene on chromosome 6q23.2, encoding Solute carrier family 2, facilitated glucose transporter member 12 (Q8TD20). Insulin-independent facilitative glucose transporter.
SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).
Source: NCBI Gene 154091 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 98 total
- MANE Select transcript:
NM_145176
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18067 |
| Approved symbol | SLC2A12 |
| Name | solute carrier family 2 member 12 |
| Location | 6q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GLUT12, GLUT8 |
| Ensembl gene | ENSG00000146411 |
| Ensembl biotype | protein_coding |
| OMIM | 610372 |
| Entrez | 154091 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000275230, ENST00000858670, ENST00000858671, ENST00000936272
RefSeq mRNA: 1 — MANE Select: NM_145176
NM_145176
CCDS: CCDS5169
Canonical transcript exons
ENST00000275230 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000975725 | 134006812 | 134006934 |
| ENSE00001012898 | 134001997 | 134002129 |
| ENSE00001170249 | 134028381 | 134029721 |
| ENSE00001208315 | 134052378 | 134052624 |
| ENSE00001281160 | 133987581 | 133991308 |
Expression profiles
Bgee: expression breadth ubiquitous, 205 present calls, max score 96.51.
FANTOM5 (CAGE): breadth broad, TPM avg 3.0149 / max 129.4181, expressed in 844 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 75641 | 2.7706 | 815 |
| 75640 | 0.2442 | 115 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 96.51 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.43 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.68 | silver quality |
| cardiac muscle of right atrium | UBERON:0003379 | 89.29 | gold quality |
| oviduct epithelium | UBERON:0004804 | 85.82 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.85 | gold quality |
| duodenum | UBERON:0002114 | 83.61 | gold quality |
| myocardium | UBERON:0002349 | 83.37 | silver quality |
| cauda epididymis | UBERON:0004360 | 82.52 | gold quality |
| kidney epithelium | UBERON:0004819 | 82.32 | silver quality |
| jejunum | UBERON:0002115 | 81.08 | gold quality |
| adrenal tissue | UBERON:0018303 | 80.79 | gold quality |
| prostate gland | UBERON:0002367 | 79.38 | gold quality |
| bronchial epithelial cell | CL:0002328 | 79.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 78.93 | gold quality |
| lower esophagus | UBERON:0013473 | 78.84 | gold quality |
| bronchus | UBERON:0002185 | 78.47 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 77.54 | gold quality |
| heart left ventricle | UBERON:0002084 | 77.38 | gold quality |
| cardiac ventricle | UBERON:0002082 | 77.12 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 76.97 | silver quality |
| body of stomach | UBERON:0001161 | 76.89 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 76.55 | silver quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 76.46 | gold quality |
| biceps brachii | UBERON:0001507 | 76.36 | gold quality |
| cardia of stomach | UBERON:0001162 | 76.17 | gold quality |
| ventricular zone | UBERON:0003053 | 76.17 | gold quality |
| oral cavity | UBERON:0000167 | 75.99 | gold quality |
| seminal vesicle | UBERON:0000998 | 75.78 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 75.66 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 14.13 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
190 targeting SLC2A12, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
Literature-anchored findings (GeneRIF, showing 18)
- Embedded in microvillous (maternal-facing) and basal (fetal-facing) membranes of syncytiotrophoblast, main placental barrier layer. (review) (PMID:12583599)
- expression in adipose tissue (PMID:12890477)
- Glucose transport properties and hexose affinities of GLUT12. (PMID:12914765)
- GLUT12 protein was localized to the apical membrane of human and rat distal tubules and collecting ducts. Levels of both GLUT1 and GLUT12 are elevated in animal models of hypertension and diabetic nephropathy. (PMID:16091581)
- GLUT4 and GLUT12 were predominantly expressed in type I oxidative fibers; however, GLUT5 was expressed predominantly in type II (white) fibers (PMID:16803853)
- Translocation of GLUT12 in cultured myoblasts was dependent on activation of PI3-K. (PMID:19549745)
- study provides the first direct evidence for GLUT9 and GLUT12 expression in vascular smooth muscle cells in conjunction with the previously identified GLUT1 and GLUT10 (PMID:23302780)
- Intestinal dehydroascorbic acid (DHA) transport is mediated by the facilitative sugar transporters, GLUT2 and GLUT8 (PMID:23396969)
- findings show the level of expression of GLUT12 was significantly higher in Alzheimer’s disease compare to aged controls (PMID:24820014)
- GLUT12 is a versatile transporter: it transports a wide diversity of hexoses, it can work as a Na+ or H+/glucose symporter, and it shows electrogenic properties. (PMID:25855082)
- GLUT12-knockdown completely abrogated high glucose-induced migration, indicating that GLUT12 functionally participates in sensing high glucose concentrations. (PMID:29187448)
- GLUT12 rapid translocation to the enterocytes apical membrane in response to glucose and insulin could be related to GLUT12 participation in sugar absorption during postprandial periods. In the pathological condition of obesity, in which insulin sensitivity is reduced, the contribution of GLUT12 to sugar absorption would be affected. (PMID:30352123)
- We hypothesize that GLUT12 would contribute to modulate sugar absorption in physiological and pathophysiological situations such as obesity. (PMID:31002200)
- Let-7a-5p inhibits triple-negative breast tumor growth and metastasis through GLUT12-mediated warburg effect. (PMID:32946964)
- Alternative Splicing and Cleavage of GLUT8. (PMID:33077497)
- Epithelial mesenchymal transition regulator TWIST1 transcription factor stimulates glucose uptake through upregulation of GLUT1, GLUT3, and GLUT12 in vitro. (PMID:34791627)
- Inhibition of androgen receptor enhanced the anticancer effects of everolimus through targeting glucose transporter 12. (PMID:36594084)
- Hypoxia promotes the growth and metastasis of ovarian cancer cells by suppressing ferroptosis via upregulating SLC2A12. (PMID:37940066)
Cross-species orthologs
45 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc2a12 | ENSDARG00000036865 |
| mus_musculus | Slc2a12 | ENSMUSG00000037490 |
| rattus_norvegicus | Slc2a12 | ENSRNOG00000011161 |
| 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), 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 12 — Q8TD20 (reviewed: Q8TD20)
Alternative names: Glucose transporter type 12
All UniProt accessions (1): Q8TD20
UniProt curated annotations — full annotation on UniProt →
Function. Insulin-independent facilitative glucose transporter.
Subcellular location. Cell membrane. Endomembrane system. Cytoplasm. Perinuclear region.
Tissue specificity. Predominantly expressed in skeletal muscle, heart and prostate, with lower levels in brain, placenta and kidney.
Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
RefSeq proteins (1): NP_660159* (*=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 |
| IPR050820 | MFS_Sugar_Transporter | Family |
Pfam: PF00083
Catalyzed reactions (Rhea), 1 shown:
- D-glucose(out) = D-glucose(in) (RHEA:60376)
UniProt features (32 total): topological domain 13, transmembrane region 12, glycosylation site 4, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TD20-F1 | 74.55 | 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.
Glycosylation sites (4): 371, 383, 396, 401
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-189200 | Cellular hexose transport |
MSigDB gene sets: 105 (showing top):
GOBP_CARBOHYDRATE_TRANSPORT, TAL1ALPHAE47_01, NF1_Q6_01, RIGGI_EWING_SARCOMA_PROGENITOR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, AACTTT_UNKNOWN, CUI_TCF21_TARGETS_2_DN, DBP_Q6, VECCHI_GASTRIC_CANCER_EARLY_DN, GOBP_TRANSMEMBRANE_TRANSPORT, YNGTTNNNATT_UNKNOWN, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, TGGAAA_NFAT_Q4_01, chr6q23
GO Biological Process (4): hexose transmembrane transport (GO:0008645), circulatory system development (GO:0072359), D-glucose transmembrane transport (GO:1904659), transmembrane transport (GO:0055085)
GO Molecular Function (2): D-glucose transmembrane transporter activity (GO:0055056), transmembrane transporter activity (GO:0022857)
GO Cellular Component (5): plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)
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 |
|---|---|
| cellular anatomical structure | 4 |
| monosaccharide transmembrane transport | 1 |
| system development | 1 |
| hexose transmembrane transport | 1 |
| transport | 1 |
| cellular process | 1 |
| hexose transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2146 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC2A12 | H7C1H1 | H7C1H1 | 793 |
| SLC2A12 | INS | P01308 | 676 |
| SLC2A12 | SLC5A1 | P13866 | 620 |
| SLC2A12 | SLC5A4 | Q9NY91 | 495 |
| SLC2A12 | AKT1 | P31749 | 481 |
| SLC2A12 | SLC5A11 | Q8WWX8 | 480 |
| SLC2A12 | SLC38A2 | Q96QD8 | 476 |
| SLC2A12 | SLC50A1 | Q9BRV3 | 448 |
| SLC2A12 | CAPN9 | O14815 | 436 |
| SLC2A12 | SLC1A5 | Q15758 | 436 |
| SLC2A12 | SLC5A9 | Q2M3M2 | 435 |
| SLC2A12 | MFSD11 | O43934 | 431 |
| SLC2A12 | SLC23A1 | Q9UHI7 | 429 |
| SLC2A12 | SLC1A1 | P43005 | 426 |
| SLC2A12 | KHK | P50053 | 415 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BIRC2 | HTRA2 | psi-mi:“MI:0914”(association) | 0.650 |
| SLC2A12 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ABCF2 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| HOXD13 | EEF1D | psi-mi:“MI:0914”(association) | 0.530 |
| GPR12 | TLCD2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A12 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| UPK2 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A12 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (125): TMEM242 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), MTFR2 (Affinity Capture-MS), ORMDL2 (Affinity Capture-MS), SLC25A23 (Affinity Capture-MS), SLC25A28 (Affinity Capture-MS), SLC25A51 (Affinity Capture-MS), TSPO (Affinity Capture-MS), PIGW (Affinity Capture-MS), SLC19A2 (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), METTL15 (Affinity Capture-MS), PEX16 (Affinity Capture-MS), SELT (Affinity Capture-MS), SPPL3 (Affinity Capture-MS)
ESM2 similar proteins: A1DWM3, A4IF94, A4IHK6, A4QN56, A9JTG4, B0UYT5, B1AT66, B2RXV4, G8XYX6, O70324, O75387, P36021, P70187, Q0P5V9, Q0VCM6, Q1LUQ4, Q4LE88, Q569T7, Q5BIZ0, Q5BKX6, Q5J316, Q5RCN7, Q5RF58, Q5VW38, Q5XGZ9, Q68EU6, Q6DBX0, Q6P6V6, Q6PDC8, Q6ZSM3, Q6ZSS7, Q7SXB7, Q8BSM7, Q8CA03, Q8CBH5, Q8CGA3, Q8K1P8, Q8N370, Q8N468, Q8NBP5
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
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1069 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:134009966:A:AC | donor_gain | 1.0000 |
| 6:134009967:C:CC | donor_gain | 1.0000 |
| 6:134016117:CTGT:C | donor_gain | 1.0000 |
| 6:134006935:C:CC | acceptor_gain | 0.9900 |
| 6:134016116:A:AC | donor_gain | 0.9900 |
| 6:134016117:C:CC | donor_gain | 0.9900 |
| 6:134017095:A:C | acceptor_gain | 0.9900 |
| 6:134017099:T:C | acceptor_gain | 0.9900 |
| 6:134052374:TTA:T | donor_loss | 0.9900 |
| 6:134052375:TACCT:T | donor_loss | 0.9900 |
| 6:134052376:A:T | donor_loss | 0.9900 |
| 6:134052377:C:CA | donor_loss | 0.9900 |
| 6:134052377:CCT:C | donor_gain | 0.9900 |
| 6:133999160:T:A | donor_gain | 0.9800 |
| 6:134028379:A:AC | donor_gain | 0.9800 |
| 6:134028380:C:CC | donor_gain | 0.9800 |
| 6:134029718:CAGC:C | acceptor_gain | 0.9800 |
| 6:134029721:CCTGC:C | acceptor_loss | 0.9800 |
| 6:134029722:C:A | acceptor_loss | 0.9800 |
| 6:134029722:C:CC | acceptor_gain | 0.9800 |
| 6:134029723:T:A | acceptor_loss | 0.9800 |
| 6:134029730:A:T | acceptor_gain | 0.9800 |
| 6:134006811:CCAG:C | donor_gain | 0.9700 |
| 6:134006933:CA:C | acceptor_gain | 0.9700 |
| 6:134016115:G:T | donor_gain | 0.9700 |
| 6:134029729:C:CT | acceptor_gain | 0.9700 |
| 6:134045999:CCAA:C | acceptor_gain | 0.9700 |
| 6:134046000:CAA:C | acceptor_gain | 0.9700 |
| 6:134052371:A:AC | donor_gain | 0.9700 |
| 6:134052372:C:CC | donor_gain | 0.9700 |
AlphaMissense
3996 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:134029165:G:C | S220R | 0.995 |
| 6:134029165:G:T | S220R | 0.995 |
| 6:134029167:T:G | S220R | 0.995 |
| 6:134002083:A:C | S538R | 0.993 |
| 6:134002083:A:T | S538R | 0.993 |
| 6:134002085:T:G | S538R | 0.993 |
| 6:134028424:G:C | S467R | 0.993 |
| 6:134028424:G:T | S467R | 0.993 |
| 6:134028426:T:G | S467R | 0.993 |
| 6:134028855:C:G | G324R | 0.993 |
| 6:134028855:C:T | G324R | 0.993 |
| 6:134029573:G:C | S84R | 0.993 |
| 6:134029573:G:T | S84R | 0.993 |
| 6:134029575:T:G | S84R | 0.993 |
| 6:134028869:G:T | A319D | 0.992 |
| 6:134028895:A:C | F310L | 0.992 |
| 6:134028895:A:T | F310L | 0.992 |
| 6:134028897:A:G | F310L | 0.992 |
| 6:134029239:A:G | W196R | 0.992 |
| 6:134029239:A:T | W196R | 0.992 |
| 6:134029292:C:T | G178D | 0.992 |
| 6:134029415:C:G | R137P | 0.992 |
| 6:134006825:A:C | F518L | 0.991 |
| 6:134006825:A:T | F518L | 0.991 |
| 6:134006827:A:G | F518L | 0.991 |
| 6:134028741:C:G | G362R | 0.991 |
| 6:134028896:A:G | F310S | 0.991 |
| 6:134029349:G:T | A159D | 0.991 |
| 6:134028400:A:C | F475L | 0.990 |
| 6:134028400:A:T | F475L | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000041630 (6:134005167 T>C), RS1000092196 (6:134009203 C>T), RS1000204824 (6:134008987 A>C), RS1000233069 (6:134023552 A>T), RS1000271008 (6:134014917 A>G), RS1000283628 (6:134021524 T>G), RS1000371414 (6:134015485 T>C), RS1000400758 (6:134021150 G>A), RS1000458581 (6:134016760 T>C), RS1000481088 (6:134047922 C>A,T), RS1000509643 (6:134027823 T>C), RS1000549499 (6:134051923 T>C), RS1000583577 (6:134023821 AT>A), RS1000665978 (6:133992409 G>A), RS1000676254 (6:134033918 C>T)
Disease associations
OMIM: gene MIM:610372 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002812_4 | Schizophrenia (inflammation and infection response interaction) | 8.000000e-06 |
| GCST003488_13 | Response to fenofibrate (triglyceride levels) | 5.000000e-06 |
| GCST003542_172 | Night sleep phenotypes | 1.000000e-06 |
| GCST005194_23 | Coronary artery disease | 1.000000e-07 |
| GCST005196_134 | Coronary artery disease | 1.000000e-06 |
| GCST006192_38 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 2.000000e-08 |
| GCST006192_42 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 3.000000e-08 |
| GCST006195_42 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 1.000000e-07 |
| GCST006195_85 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 7.000000e-08 |
| GCST007429_40 | Lung function (FVC) | 2.000000e-07 |
| GCST007432_74 | FEV1 | 4.000000e-09 |
| GCST008954_1 | High chromosomal aberration frequency (chromosome type) | 2.000000e-06 |
| GCST009391_1045 | Metabolite levels | 8.000000e-07 |
| GCST012490_44 | Femur bone mineral density x serum urate levels interaction | 1.000000e-11 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007047 | Toxoplasma gondii seropositivity |
| EFO:0007681 | triglyceride change measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0004312 | vital capacity |
| EFO:0004314 | forced expiratory volume |
| EFO:0009861 | chromosome-type aberration frequency |
| EFO:0004531 | urate measurement |
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
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| bisphenol A | affects expression, affects cotreatment, increases methylation, decreases expression, decreases methylation (+1 more) | 4 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| sodium arsenite | increases expression, decreases expression | 2 |
| entinostat | decreases expression, increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol F | decreases expression | 1 |
| urushiol | increases expression | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| avobenzone | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases 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_D4VP | LS180-SLC2A12-KO-c3 | Cancer cell line | Female |
| CVCL_D4VQ | LS180-SLC2A12-KO-c4 | Cancer cell line | Female |
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.