SLC2A14
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Also known as GLUT14
Summary
SLC2A14 (solute carrier family 2 member 14, HGNC:18301) is a protein-coding gene on chromosome 12p13.31, encoding Solute carrier family 2, facilitated glucose transporter member 14 (Q8TDB8). Hexose transporter that can mediate the transport of glucose and dehydroascorbate across the cell membrane.
Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).
Source: NCBI Gene 144195 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 81 total
- Druggable target: yes
- MANE Select transcript:
NM_001286234
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18301 |
| Approved symbol | SLC2A14 |
| Name | solute carrier family 2 member 14 |
| Location | 12p13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GLUT14 |
| Ensembl gene | ENSG00000173262 |
| Ensembl biotype | protein_coding |
| OMIM | 611039 |
| Entrez | 144195 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 20 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000340749, ENST00000396589, ENST00000431042, ENST00000535266, ENST00000535295, ENST00000535344, ENST00000535383, ENST00000535587, ENST00000536594, ENST00000537557, ENST00000539234, ENST00000539738, ENST00000539924, ENST00000542505, ENST00000542546, ENST00000542782, ENST00000542916, ENST00000543909, ENST00000544749, ENST00000546234, ENST00000616981, ENST00000864025, ENST00000940598
RefSeq mRNA: 6 — MANE Select: NM_001286234
NM_001286233, NM_001286234, NM_001286235, NM_001286236, NM_001286237, NM_153449
CCDS: CCDS66300, CCDS66301, CCDS66302, CCDS8585
Canonical transcript exons
ENST00000431042 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001181752 | 7817831 | 7818034 |
| ENSE00001624160 | 7831604 | 7831764 |
| ENSE00001686416 | 7827495 | 7827682 |
| ENSE00001713854 | 7828704 | 7828866 |
| ENSE00001732389 | 7829766 | 7830006 |
| ENSE00002234747 | 7872807 | 7872915 |
| ENSE00002276877 | 7812514 | 7814534 |
| ENSE00003529636 | 7821221 | 7821325 |
| ENSE00003595963 | 7832722 | 7832814 |
| ENSE00003602741 | 7819482 | 7819583 |
| ENSE00003608127 | 7869863 | 7869937 |
Expression profiles
Bgee: expression breadth ubiquitous, 130 present calls, max score 92.23.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4777 / max 97.8854, expressed in 136 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 129298 | 0.1309 | 41 |
| 129295 | 0.0918 | 39 |
| 129294 | 0.0521 | 23 |
| 129296 | 0.0518 | 21 |
| 129291 | 0.0364 | 3 |
| 129288 | 0.0314 | 4 |
| 129292 | 0.0296 | 9 |
| 129297 | 0.0205 | 7 |
| 129289 | 0.0146 | 3 |
| 129287 | 0.0122 | 3 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 92.23 | gold quality |
| right testis | UBERON:0004534 | 92.05 | gold quality |
| testis | UBERON:0000473 | 91.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.55 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.29 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.02 | gold quality |
| thymus | UBERON:0002370 | 84.27 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 79.09 | gold quality |
| right adrenal gland | UBERON:0001233 | 77.64 | gold quality |
| body of pancreas | UBERON:0001150 | 77.08 | gold quality |
| adrenal gland | UBERON:0002369 | 73.28 | gold quality |
| left adrenal gland | UBERON:0001234 | 72.77 | gold quality |
| blood | UBERON:0000178 | 72.40 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 72.36 | gold quality |
| bone marrow | UBERON:0002371 | 70.25 | gold quality |
| pancreas | UBERON:0001264 | 68.53 | gold quality |
| cerebellar vermis | UBERON:0004720 | 68.27 | gold quality |
| bone marrow cell | CL:0002092 | 64.94 | silver quality |
| right ovary | UBERON:0002118 | 63.72 | gold quality |
| ovary | UBERON:0000992 | 62.50 | gold quality |
| monocyte | CL:0000576 | 61.85 | gold quality |
| left ovary | UBERON:0002119 | 61.76 | gold quality |
| quadriceps femoris | UBERON:0001377 | 61.63 | gold quality |
| leukocyte | CL:0000738 | 60.70 | gold quality |
| placenta | UBERON:0001987 | 59.09 | gold quality |
| tibial nerve | UBERON:0001323 | 58.60 | gold quality |
| ventricular zone | UBERON:0003053 | 56.72 | gold quality |
| gall bladder | UBERON:0002110 | 56.05 | gold quality |
| omental fat pad | UBERON:0010414 | 55.87 | gold quality |
| adipose tissue | UBERON:0001013 | 55.52 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.72 |
| E-MTAB-9388 | yes | 6.54 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1
miRNA regulators (miRDB)
87 targeting SLC2A14, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
Literature-anchored findings (GeneRIF, showing 5)
- SLC2A14 polymorphism has a possible role in changing the genetic susceptibility to late Alzheimer disease age of onset in a Han Chinese population. (PMID:22421804)
- High expression of GLUT-14 was associated with Gastric Adenocarcinoma. (PMID:26183839)
- report presents an expanded SLC2A14 gene locus and a more diverse tissue expression, concurring with the existing evidence for disease associations (PMID:27460888)
- Three alleles in the SLC2A14 gene associated independently with inflammatory bowel disease. (PMID:28971850)
- Under hypoxia and HIF1 blockade, cancer cells adapt their energy metabolism via upregulation of the GLUT14 glucose transporter and creatine metabolism providing new avenues for drug targeting. (PMID:30885992)
Cross-species orthologs
46 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000001937 | |
| danio_rerio | slc2a3b | ENSDARG00000037861 |
| danio_rerio | slc2a11l | ENSDARG00000062873 |
| danio_rerio | slc2a9l1 | ENSDARG00000070672 |
| 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), SLC2A6 (ENSG00000160326), SLC2A2 (ENSG00000163581), SLC2A4 (ENSG00000181856), SLC2A7 (ENSG00000197241), SLC2A10 (ENSG00000197496)
Protein
Protein identifiers
Solute carrier family 2, facilitated glucose transporter member 14 — Q8TDB8 (reviewed: Q8TDB8)
Alternative names: Glucose transporter type 14
All UniProt accessions (11): Q8TDB8, F5GXP7, F5GXP8, F5GXT4, F5H076, F5H3J0, F5H565, F5H5Q3, F5H5V7, F5H6F6, F5H7N2
UniProt curated annotations — full annotation on UniProt →
Function. Hexose transporter that can mediate the transport of glucose and dehydroascorbate across the cell membrane.
Subcellular location. Cell membrane.
Tissue specificity. Mainly expressed in testis. Also expressed in small intestine, liver and kidney.
Miscellaneous. GLUT14 is a recent (less than 5 M year old) duplication of GLUT3.
Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TDB8-1 | 1, GLUT14-L | yes |
| Q8TDB8-2 | 2, GLUT14-S | |
| Q8TDB8-3 | 3 | |
| Q8TDB8-4 | 4 | |
| Q8TDB8-5 | 5 |
RefSeq proteins (6): NP_001273162, NP_001273163, NP_001273164, NP_001273165, NP_001273166, NP_703150 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002945 | Glc_transpt_3 | Family |
| 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 |
| IPR045263 | GLUT | Family |
Pfam: PF00083
Catalyzed reactions (Rhea), 2 shown:
- D-glucose(out) = D-glucose(in) (RHEA:60376)
- L-dehydroascorbate(out) = L-dehydroascorbate(in) (RHEA:60380)
UniProt features (42 total): topological domain 13, transmembrane region 12, binding site 6, splice variant 4, sequence conflict 3, chain 1, region of interest 1, glycosylation site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TDB8-F1 | 87.74 | 0.71 |
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 (6): 183; 304–305; 310; 339; 402; 410
Glycosylation sites (1): 67
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-189200 | Cellular hexose transport |
MSigDB gene sets: 83 (showing top):
GOBP_CARBOHYDRATE_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, ADDYA_ERYTHROID_DIFFERENTIATION_BY_HEMIN, DAUER_STAT3_TARGETS_UP, GOBP_D_GLUCOSE_IMPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_VITAMIN_TRANSPORT, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_TRANSMEMBRANE_TRANSPORT, CAMPS_COLON_CANCER_COPY_NUMBER_DN, PAX2_02, GCCNNNWTAAR_UNKNOWN, GOMF_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_TRANSPORTER_ACTIVITY, WIERENGA_STAT5A_TARGETS_UP
GO Biological Process (6): spermatogenesis (GO:0007283), cell differentiation (GO:0030154), obsolete D-glucose import (GO:0046323), dehydroascorbic acid transport (GO:0070837), D-glucose transmembrane transport (GO:1904659), transmembrane transport (GO:0055085)
GO Molecular Function (5): dehydroascorbic acid transmembrane transporter activity (GO:0033300), D-glucose transmembrane transporter activity (GO:0055056), D-glucose binding (GO:0005536), hexose transmembrane transporter activity (GO:0015149), transmembrane transporter activity (GO:0022857)
GO Cellular Component (6): nucleus (GO:0005634), plasma membrane (GO:0005886), aggresome (GO:0016235), membrane (GO:0016020), cell projection (GO:0042995), perikaryon (GO:0043204)
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 | 3 |
| hexose transmembrane transport | 2 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| vitamin transport | 1 |
| transport | 1 |
| cellular process | 1 |
| dehydroascorbic acid transport | 1 |
| vitamin transmembrane transporter activity | 1 |
| hexose transmembrane transporter activity | 1 |
| monosaccharide binding | 1 |
| monosaccharide transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| inclusion body | 1 |
| neuronal cell body | 1 |
Protein interactions and networks
STRING
1142 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC2A14 | SLC5A1 | P13866 | 470 |
| SLC2A14 | SLC5A4 | Q9NY91 | 445 |
| SLC2A14 | SLC1A5 | Q15758 | 419 |
| SLC2A14 | KIT | P10721 | 405 |
| SLC2A14 | NANOGP8 | Q6NSW7 | 398 |
| SLC2A14 | SLC23A1 | Q9UHI7 | 390 |
| SLC2A14 | SLC23A2 | Q9UGH3 | 388 |
| SLC2A14 | SLC5A6 | Q9Y289 | 356 |
| SLC2A14 | INS | P01308 | 356 |
| SLC2A14 | SLC5A11 | Q8WWX8 | 353 |
| SLC2A14 | LDHA | P00338 | 352 |
| SLC2A14 | RPS6KA2 | Q15349 | 349 |
| SLC2A14 | RPS6KA5 | O75582 | 349 |
| SLC2A14 | SLC50A1 | Q9BRV3 | 345 |
| SLC2A14 | SLC16A14 | Q7RTX9 | 344 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC2A14 | SLC2A3 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC2A3 | LGALS3 | psi-mi:“MI:0914”(association) | 0.530 |
| TEX101 | GGT3P | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| SDCBP | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A14 | ADCY3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (30): SLC2A14 (Proximity Label-MS), SLC2A3 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), HBB (Affinity Capture-MS), HBA2 (Affinity Capture-MS), SMAP2 (Affinity Capture-MS), WDR73 (Affinity Capture-MS), SLC2A14 (Co-fractionation), HBA2 (Affinity Capture-MS), ARRB1 (Affinity Capture-MS), SMAP2 (Affinity Capture-MS), SLC2A3 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), HBB (Affinity Capture-MS), WDR73 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4ILB2, A0A8M9Q308, A2CER7, A2SWM2, A2ZN77, A4FV52, A8WGF7, B0S6T2, O23596, O62786, P11170, P30638, P36836, P46029, P46059, P51574, P60815, Q05B21, Q0ILJ3, Q10R54, Q16348, Q1L8X9, Q28FF3, Q3TXX4, Q5M7K3, Q5XGK0, Q62634, Q63424, Q6INC8, Q7TSF2, Q7ZU13, Q8AVC3, Q8BFU8, Q8TDB8, Q8WMX5, Q91X85, Q9C5L3, Q9C8X2, Q9ES07, Q9FE59
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
81 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1512 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:7814530:TAGTA:T | acceptor_gain | 1.0000 |
| 12:7814531:AGTA:A | acceptor_gain | 1.0000 |
| 12:7814532:GTA:G | acceptor_gain | 1.0000 |
| 12:7814533:TA:T | acceptor_gain | 1.0000 |
| 12:7814535:C:CC | acceptor_gain | 1.0000 |
| 12:7814538:G:C | acceptor_gain | 1.0000 |
| 12:7814538:G:GC | acceptor_gain | 1.0000 |
| 12:7817827:TTACA:T | donor_loss | 1.0000 |
| 12:7817828:TACAG:T | donor_loss | 1.0000 |
| 12:7817829:A:AC | donor_gain | 1.0000 |
| 12:7817829:A:C | donor_loss | 1.0000 |
| 12:7817829:ACAG:A | donor_gain | 1.0000 |
| 12:7817830:C:CA | donor_gain | 1.0000 |
| 12:7817830:C:G | donor_loss | 1.0000 |
| 12:7817830:CA:C | donor_gain | 1.0000 |
| 12:7817830:CAG:C | donor_gain | 1.0000 |
| 12:7817830:CAGC:C | donor_gain | 1.0000 |
| 12:7817830:CAGCA:C | donor_gain | 1.0000 |
| 12:7818030:TGATT:T | acceptor_gain | 1.0000 |
| 12:7818031:GATT:G | acceptor_gain | 1.0000 |
| 12:7818032:ATT:A | acceptor_gain | 1.0000 |
| 12:7818032:ATTC:A | acceptor_loss | 1.0000 |
| 12:7818033:TT:T | acceptor_gain | 1.0000 |
| 12:7818034:TC:T | acceptor_loss | 1.0000 |
| 12:7818035:C:CC | acceptor_gain | 1.0000 |
| 12:7818035:C:T | acceptor_loss | 1.0000 |
| 12:7818036:T:A | acceptor_loss | 1.0000 |
| 12:7819580:ATAG:A | acceptor_gain | 1.0000 |
| 12:7819581:TAG:T | acceptor_gain | 1.0000 |
| 12:7819584:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3245 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:7817924:G:C | F417L | 0.997 |
| 12:7817924:G:T | F417L | 0.997 |
| 12:7817926:A:G | F417L | 0.997 |
| 12:7829782:C:T | G189E | 0.997 |
| 12:7829893:C:T | G152D | 0.997 |
| 12:7829881:C:T | G156E | 0.996 |
| 12:7829894:C:G | G152R | 0.996 |
| 12:7831652:C:T | G98D | 0.996 |
| 12:7817964:C:T | G404E | 0.995 |
| 12:7817972:A:C | F401L | 0.995 |
| 12:7817972:A:T | F401L | 0.995 |
| 12:7817974:A:G | F401L | 0.995 |
| 12:7828753:A:C | S232R | 0.995 |
| 12:7828753:A:T | S232R | 0.995 |
| 12:7828755:T:G | S232R | 0.995 |
| 12:7828825:C:A | W208C | 0.995 |
| 12:7828825:C:G | W208C | 0.995 |
| 12:7828827:A:G | W208R | 0.995 |
| 12:7828827:A:T | W208R | 0.995 |
| 12:7831655:C:T | G97E | 0.995 |
| 12:7832756:C:T | G49D | 0.995 |
| 12:7817875:A:G | W434R | 0.994 |
| 12:7817875:A:T | W434R | 0.994 |
| 12:7817889:G:T | A429D | 0.994 |
| 12:7829783:C:G | G189R | 0.994 |
| 12:7829783:C:T | G189R | 0.994 |
| 12:7829882:C:G | G156R | 0.994 |
| 12:7829882:C:T | G156R | 0.994 |
| 12:7829893:C:A | G152V | 0.994 |
| 12:7831643:C:T | G101D | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000005719 (12:7877929 G>A), RS1000058344 (12:7877552 AG>A), RS1000063296 (12:7828754 C>G), RS1000079882 (12:7882736 C>T), RS1000086137 (12:7826942 T>C), RS1000136441 (12:7867850 A>C), RS1000212778 (12:7853619 A>G), RS1000238931 (12:7890979 T>C), RS1000243359 (12:7822045 T>C), RS1000272327 (12:7892490 G>C), RS1000282057 (12:7815286 C>G,T), RS1000317632 (12:7864887 TCTC>T), RS1000329247 (12:7844725 G>A), RS1000333904 (12:7815476 AT>A,ATT), RS1000336778 (12:7875767 G>A,T)
Disease associations
OMIM: gene MIM:611039 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007354_12 | Intracranial aneurysm | 1.000000e-14 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295906 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Class I transporters
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Aflatoxin B1 | decreases expression, decreases methylation | 3 |
| lasiocarpine | decreases expression | 2 |
| methyleugenol | decreases expression | 2 |
| bisphenol A | affects expression, decreases methylation | 2 |
| bisphenol S | affects cotreatment, increases expression | 2 |
| N-Nitrosopyrrolidine | decreases expression | 2 |
| Oxygen | increases expression | 2 |
| Testosterone | affects cotreatment, increases expression, decreases expression | 2 |
| tungsten carbide | affects binding, increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation, increases methylation | 1 |
| 2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline | decreases expression | 1 |
| vandetanib | increases expression | 1 |
| clothianidin | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Rosiglitazone | affects cotreatment, increases expression, decreases reaction | 1 |
| Pioglitazone | affects cotreatment, increases expression | 1 |
| Troglitazone | affects cotreatment, increases expression, decreases reaction | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Gemcitabine | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | increases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4132902 | ADMET | Antagonist activity at human GLUT3 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
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4SY | HuH7-SLC2A14-KO-c2 | Cancer cell line | Male |
| CVCL_D4SZ | HuH7-SLC2A14-KO-c4 | 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): brain aneurysm