SLC17A4
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Also known as KIAA2138
Summary
SLC17A4 (solute carrier family 17 member 4, HGNC:10932) is a protein-coding gene on chromosome 6p22.2, encoding Probable small intestine urate exporter (Q9Y2C5). Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions.
Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).
Source: NCBI Gene 10050 — RefSeq curated summary.
At a glance
- GWAS associations: 73
- MANE Select transcript:
NM_005495
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10932 |
| Approved symbol | SLC17A4 |
| Name | solute carrier family 17 member 4 |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA2138 |
| Ensembl gene | ENSG00000146039 |
| Ensembl biotype | protein_coding |
| OMIM | 604216 |
| Entrez | 10050 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 18 protein_coding
ENST00000377905, ENST00000397076, ENST00000439485, ENST00000867587, ENST00000867588, ENST00000867589, ENST00000867590, ENST00000867591, ENST00000867592, ENST00000867593, ENST00000867594, ENST00000867595, ENST00000867596, ENST00000867597, ENST00000867598, ENST00000867599, ENST00000867600, ENST00000957018
RefSeq mRNA: 2 — MANE Select: NM_005495
NM_001286121, NM_005495
CCDS: CCDS4564, CCDS75411
Canonical transcript exons
ENST00000377905 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000973604 | 25770067 | 25770300 |
| ENSE00000973605 | 25770384 | 25770471 |
| ENSE00000973606 | 25770926 | 25771012 |
| ENSE00000973607 | 25773275 | 25773393 |
| ENSE00000973608 | 25773513 | 25773674 |
| ENSE00000973609 | 25776595 | 25776727 |
| ENSE00000973610 | 25776812 | 25776959 |
| ENSE00001825243 | 25779054 | 25781199 |
| ENSE00003619809 | 25777926 | 25778016 |
| ENSE00003665322 | 25768985 | 25769190 |
| ENSE00003739453 | 25761927 | 25762053 |
| ENSE00003890267 | 25754742 | 25754781 |
Expression profiles
Bgee: expression breadth broad, 60 present calls, max score 90.87.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1252 / max 30.2651, expressed in 23 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66451 | 0.1252 | 23 |
Top tissues by expression
268 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 90.87 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.42 | gold quality |
| rectum | UBERON:0001052 | 90.38 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.36 | gold quality |
| body of pancreas | UBERON:0001150 | 88.74 | gold quality |
| colonic mucosa | UBERON:0000317 | 86.44 | gold quality |
| gall bladder | UBERON:0002110 | 85.99 | gold quality |
| liver | UBERON:0002107 | 85.40 | gold quality |
| duodenum | UBERON:0002114 | 85.30 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 84.64 | gold quality |
| diaphragm | UBERON:0001103 | 84.60 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 79.99 | gold quality |
| ileal mucosa | UBERON:0000331 | 79.28 | gold quality |
| pancreatic ductal cell | CL:0002079 | 79.02 | silver quality |
| small intestine | UBERON:0002108 | 78.96 | gold quality |
| pancreas | UBERON:0001264 | 78.57 | gold quality |
| transverse colon | UBERON:0001157 | 77.88 | gold quality |
| hair follicle | UBERON:0002073 | 74.57 | gold quality |
| jejunum | UBERON:0002115 | 73.80 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 72.66 | gold quality |
| intestine | UBERON:0000160 | 69.59 | gold quality |
| olfactory bulb | UBERON:0002264 | 68.95 | gold quality |
| type B pancreatic cell | CL:0000169 | 68.86 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 68.79 | silver quality |
| CA1 field of hippocampus | UBERON:0003881 | 68.01 | gold quality |
| large intestine | UBERON:0000059 | 66.32 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 65.93 | gold quality |
| colon | UBERON:0001155 | 65.67 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 64.93 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 64.90 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting SLC17A4, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-892A | 99.54 | 68.16 | 1141 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
Literature-anchored findings (GeneRIF, showing 4)
- SLC17A4 is an intestinal organic anion exporter that acts in delta-psi and Chloride dependent manners (PMID:22460716)
- Thyroid hormone transporter (SLC17A4) single nucleotide polymorphism is associated with replicated free thyroxine (FT4) susceptibility loci in genome wide association study. Genetic variant SLC17A4-rs9356988 is associated with the 3,3’,5-triiodothyronine (T3)/T4 ratio. (PMID:30367059)
- Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4. (PMID:34937426)
- A prognostic signature consisting of metabolism-related genes and SLC17A4 serves as a potential biomarker of immunotherapeutic prediction in prostate cancer. (PMID:36325340)
Cross-species orthologs
55 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc17a5 | ENSDARG00000055190 |
| danio_rerio | slc37a4b | ENSDARG00000077180 |
| danio_rerio | si:ch1073-513e17.1 | ENSDARG00000086739 |
| danio_rerio | slc37a4bl | ENSDARG00000093531 |
| mus_musculus | Slc17a4 | ENSMUSG00000021336 |
| rattus_norvegicus | Slc17a4 | ENSRNOG00000022505 |
| drosophila_melanogaster | dmGlut | FBGN0010497 |
| drosophila_melanogaster | MFS14 | FBGN0010651 |
| drosophila_melanogaster | Picot | FBGN0024315 |
| drosophila_melanogaster | CG9254 | FBGN0028513 |
| drosophila_melanogaster | CG6978 | FBGN0029727 |
| drosophila_melanogaster | VGlut | FBGN0031424 |
| drosophila_melanogaster | CG7881 | FBGN0033048 |
| drosophila_melanogaster | MFS12 | FBGN0033234 |
| drosophila_melanogaster | MFS15 | FBGN0034392 |
| drosophila_melanogaster | CG15096 | FBGN0034394 |
| drosophila_melanogaster | MFS16 | FBGN0034611 |
| drosophila_melanogaster | CG12490 | FBGN0034782 |
| drosophila_melanogaster | CG9825 | FBGN0034783 |
| drosophila_melanogaster | CG9826 | FBGN0034784 |
| drosophila_melanogaster | CG3649 | FBGN0034785 |
| drosophila_melanogaster | CG2003 | FBGN0039886 |
| drosophila_melanogaster | CG30265 | FBGN0050265 |
| drosophila_melanogaster | MFS1 | FBGN0050272 |
| caenorhabditis_elegans | WBGENE00001135 | |
| caenorhabditis_elegans | WBGENE00007669 | |
| caenorhabditis_elegans | WBGENE00008000 | |
| caenorhabditis_elegans | WBGENE00008677 | |
| caenorhabditis_elegans | WBGENE00010755 | |
| caenorhabditis_elegans | WBGENE00010931 | |
| caenorhabditis_elegans | WBGENE00011185 | |
| caenorhabditis_elegans | WBGENE00011349 | |
| caenorhabditis_elegans | WBGENE00011556 | |
| caenorhabditis_elegans | WBGENE00012443 | |
| caenorhabditis_elegans | WBGENE00015271 | |
| caenorhabditis_elegans | WBGENE00015272 | |
| caenorhabditis_elegans | WBGENE00016003 | |
| caenorhabditis_elegans | WBGENE00018429 | |
| caenorhabditis_elegans | WBGENE00018918 | |
| caenorhabditis_elegans | WBGENE00018920 | |
| caenorhabditis_elegans | WBGENE00019187 | |
| caenorhabditis_elegans | WBGENE00019655 | |
| caenorhabditis_elegans | WBGENE00020583 | |
| caenorhabditis_elegans | WBGENE00020584 | |
| caenorhabditis_elegans | WBGENE00020697 | |
| caenorhabditis_elegans | WBGENE00020698 | |
| caenorhabditis_elegans | WBGENE00020699 | |
| caenorhabditis_elegans | WBGENE00020700 | |
| caenorhabditis_elegans | WBGENE00021157 | |
| caenorhabditis_elegans | WBGENE00021158 | |
| caenorhabditis_elegans | WBGENE00021219 | |
| caenorhabditis_elegans | WBGENE00021220 | |
| caenorhabditis_elegans | WBGENE00021223 | |
| caenorhabditis_elegans | WBGENE00021226 | |
| caenorhabditis_elegans | WBGENE00302978 |
Paralogs (12): SLC17A6 (ENSG00000091664), SLC17A9 (ENSG00000101194), SLC17A7 (ENSG00000104888), SLC17A2 (ENSG00000112337), SLC17A5 (ENSG00000119899), SLC17A3 (ENSG00000124564), SLC17A1 (ENSG00000124568), SLC37A2 (ENSG00000134955), SLC37A4 (ENSG00000137700), SLC37A3 (ENSG00000157800), SLC37A1 (ENSG00000160190), SLC17A8 (ENSG00000179520)
Protein
Protein identifiers
Probable small intestine urate exporter — Q9Y2C5 (reviewed: Q9Y2C5)
Alternative names: Solute carrier family 17 member 4
All UniProt accessions (1): Q9Y2C5
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. Mediates chloride-dependent transport of urate. Mediates sodium-independent high affinity transport of thyroid hormones including L-thyroxine (T4) and 3,3’,5-triiodo-L-thyronine (T3). Can actively transport inorganic phosphate into cells via Na(+) cotransport.
Subcellular location. Apical cell membrane.
Tissue specificity. Abundantly expressed in pancreas, liver, colon and small intestine, less in kidney. Not detected in the adrenal glands, brain, placenta, heart, testis, skeletal muscle, and lungs.
Similarity. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2C5-1 | 1 | yes |
| Q9Y2C5-2 | 2 | |
| Q9Y2C5-3 | 3 | |
| Q9Y2C5-4 | 4 |
RefSeq proteins (2): NP_001273050, NP_005486* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011701 | MFS | Family |
| IPR020846 | MFS_dom | Domain |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR050382 | MFS_Na/Anion_cotransporter | Family |
Pfam: PF07690
Catalyzed reactions (Rhea), 4 shown:
- 3 Na(+)(out) + phosphate(out) = 3 Na(+)(in) + phosphate(in) (RHEA:71255)
- 3,3’,5-triiodo-L-thyronine(out) = 3,3’,5-triiodo-L-thyronine(in) (RHEA:71811)
- L-thyroxine(out) = L-thyroxine(in) (RHEA:71819)
- urate(out) + n chloride(in) = urate(in) + n chloride(out) (RHEA:72319)
UniProt features (26 total): transmembrane region 10, glycosylation site 5, splice variant 5, mutagenesis site 3, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2C5-F1 | 83.87 | 0.57 |
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 (5): 47, 56, 66, 75, 90
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 66 | loss of glycosylation and significant reduction in the transport of thyroid hormones t3 and t4; when associated with a-7 |
| 75 | loss of glycosylation and significant reduction in the transport of thyroid hormones t3 and t4; when associated with a-6 |
| 90 | loss of glycosylation and significant reduction in the transport of thyroid hormones t3 and t4; when associated with a-7 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 80 (showing top):
WANG_CLIM2_TARGETS_UP, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, RGTTAMWNATT_HNF1_01, GOBP_PHOSPHATE_ION_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOCC_APICAL_PLASMA_MEMBRANE, AACTTT_UNKNOWN, SABATES_COLORECTAL_ADENOMA_DN, ACEVEDO_LIVER_CANCER_UP, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_SODIUM_ION_TRANSPORT
GO Biological Process (8): phosphate-containing compound metabolic process (GO:0006796), sodium ion transport (GO:0006814), sodium-dependent phosphate transport (GO:0044341), monoatomic ion transport (GO:0006811), urate transport (GO:0015747), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085), thyroid hormone transport (GO:0070327)
GO Molecular Function (5): sodium:phosphate symporter activity (GO:0005436), urate transmembrane transporter activity (GO:0015143), thyroid hormone transmembrane transporter activity (GO:0015349), transmembrane transporter activity (GO:0022857), symporter activity (GO:0015293)
GO Cellular Component (4): plasma membrane (GO:0005886), membrane (GO:0016020), apical plasma membrane (GO:0016324), brush border membrane (GO:0031526)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| secondary active transmembrane transporter activity | 2 |
| metabolic process | 1 |
| metal ion transport | 1 |
| phosphate ion transport | 1 |
| nitrogen compound transport | 1 |
| sodium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| cellular process | 1 |
| hormone transport | 1 |
| phosphate transmembrane transporter activity | 1 |
| solute:sodium symporter activity | 1 |
| urate transport | 1 |
| salt transmembrane transporter activity | 1 |
| thyroid hormone transport | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| brush border | 1 |
| apical plasma membrane | 1 |
| cell projection membrane | 1 |
Protein interactions and networks
STRING
546 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC17A4 | SLC34A1 | Q06495 | 816 |
| SLC17A4 | SLC16A9 | Q7RTY1 | 657 |
| SLC17A4 | SLC2A9 | Q9NRM0 | 602 |
| SLC17A4 | SLC22A11 | Q9NSA0 | 573 |
| SLC17A4 | PDZK1 | Q5T2W1 | 527 |
| SLC17A4 | SLC22A12 | Q96S37 | 506 |
| SLC17A4 | TMEM170A | Q8WVE7 | 506 |
| SLC17A4 | ZHX2 | Q9Y6X8 | 471 |
| SLC17A4 | CARMIL1 | Q5VZK9 | 446 |
| SLC17A4 | ITPK1 | Q13572 | 438 |
| SLC17A4 | ABCA8 | O94911 | 436 |
| SLC17A4 | SLC23A3 | Q6PIS1 | 419 |
| SLC17A4 | SLC39A5 | Q6ZMH5 | 416 |
| SLC17A4 | SLCO1B1 | Q9Y6L6 | 413 |
| SLC17A4 | ALDH16A1 | Q8IZ83 | 410 |
IntAct
0 interactions, top by confidence:
BioGRID (1): SLC17A4 (Affinity Capture-MS)
ESM2 similar proteins: A4FV52, A6QLI1, O00476, O00624, O61369, O62786, P34272, P34644, P38142, Q03567, Q05B21, Q10046, Q14916, Q1L8X9, Q21455, Q28722, Q2QWW7, Q32LF0, Q3TXX4, Q3UHK1, Q5NCM1, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q66KG0, Q6INC8, Q7TSF2, Q7ZX53, Q8BFU8, Q8BLE7, Q8NDX2, Q921A2, Q95R48, Q961J5, Q96QE2, Q9C757, Q9FKV1
Diamond homologs: A4FV52, A6QLI1, O00476, O00624, O61369, O82390, P34644, Q03567, Q05B21, Q0IZQ3, Q10046, Q14916, Q1L8X9, Q28722, Q2QWW7, Q32LF0, Q3E9A0, Q3TXX4, Q53P54, Q5NCM1, Q5Q0U0, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q652N5, Q66GI9, Q6INC8, Q7TSF2, Q8BFU8, Q8BLE7, Q8BN82, Q8GX78, Q8NDX2, Q9FKV1, Q9JI12, Q9MZD1, Q9NRA2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1974 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:25762050:A:T | donor_gain | 1.0000 |
| 6:25761925:A:AG | acceptor_gain | 0.9900 |
| 6:25761926:G:GC | acceptor_gain | 0.9900 |
| 6:25761926:GTAA:G | acceptor_gain | 0.9900 |
| 6:25769187:AATGG:A | donor_loss | 0.9900 |
| 6:25769189:TGGT:T | donor_loss | 0.9900 |
| 6:25769190:GGT:G | donor_loss | 0.9900 |
| 6:25769191:GTAAG:G | donor_loss | 0.9900 |
| 6:25769192:T:TC | donor_loss | 0.9900 |
| 6:25770183:G:GG | donor_gain | 0.9900 |
| 6:25776594:GA:G | acceptor_gain | 0.9900 |
| 6:25754777:CTCAG:C | donor_loss | 0.9800 |
| 6:25754779:CAG:C | donor_loss | 0.9800 |
| 6:25754780:AG:A | donor_loss | 0.9800 |
| 6:25754781:GGT:G | donor_loss | 0.9800 |
| 6:25754782:G:GA | donor_loss | 0.9800 |
| 6:25754783:T:A | donor_loss | 0.9800 |
| 6:25761923:TCAGT:T | acceptor_loss | 0.9800 |
| 6:25761924:CAGT:C | acceptor_loss | 0.9800 |
| 6:25761924:CAGTA:C | acceptor_gain | 0.9800 |
| 6:25761925:A:AC | acceptor_loss | 0.9800 |
| 6:25761925:AGTAA:A | acceptor_gain | 0.9800 |
| 6:25761926:GT:G | acceptor_gain | 0.9800 |
| 6:25761926:GTAAG:G | acceptor_gain | 0.9800 |
| 6:25762050:AAAGG:A | donor_loss | 0.9800 |
| 6:25762051:AAGGT:A | donor_loss | 0.9800 |
| 6:25762052:AGGTA:A | donor_loss | 0.9800 |
| 6:25762053:G:GA | donor_loss | 0.9800 |
| 6:25762054:G:A | donor_loss | 0.9800 |
| 6:25762055:T:A | donor_loss | 0.9800 |
AlphaMissense
3214 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:25770423:T:A | W191R | 0.992 |
| 6:25770423:T:C | W191R | 0.992 |
| 6:25770425:G:C | W191C | 0.988 |
| 6:25770425:G:T | W191C | 0.988 |
| 6:25770988:T:A | W228R | 0.988 |
| 6:25770988:T:C | W228R | 0.988 |
| 6:25770990:G:C | W228C | 0.986 |
| 6:25770990:G:T | W228C | 0.986 |
| 6:25771000:T:C | F232L | 0.985 |
| 6:25771002:C:A | F232L | 0.985 |
| 6:25771002:C:G | F232L | 0.985 |
| 6:25773304:T:A | W246R | 0.983 |
| 6:25773304:T:C | W246R | 0.983 |
| 6:25770112:A:C | S115R | 0.980 |
| 6:25770114:C:A | S115R | 0.980 |
| 6:25770114:C:G | S115R | 0.980 |
| 6:25776708:G:C | R367S | 0.977 |
| 6:25776708:G:T | R367S | 0.977 |
| 6:25779071:G:C | W459C | 0.976 |
| 6:25779071:G:T | W459C | 0.976 |
| 6:25779158:G:C | W488C | 0.976 |
| 6:25779158:G:T | W488C | 0.976 |
| 6:25770414:T:A | W188R | 0.975 |
| 6:25770414:T:C | W188R | 0.975 |
| 6:25779069:T:A | W459R | 0.974 |
| 6:25779069:T:C | W459R | 0.974 |
| 6:25779156:T:A | W488R | 0.974 |
| 6:25779156:T:C | W488R | 0.974 |
| 6:25770084:G:C | W105C | 0.973 |
| 6:25770084:G:T | W105C | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000140139 (6:25777073 C>T), RS1000200195 (6:25763697 T>C), RS1000213434 (6:25756870 T>C), RS1000273680 (6:25763441 T>C), RS1000748670 (6:25758245 G>A), RS1000781618 (6:25757378 G>A,C,T), RS1000835024 (6:25776448 TTG>T), RS1000855214 (6:25764861 A>G), RS1000888718 (6:25776158 T>A,C), RS1000981729 (6:25775898 T>C), RS1001033950 (6:25771573 C>A,T), RS1001213940 (6:25757143 T>C), RS1001227913 (6:25777966 C>T), RS1001307383 (6:25765105 C>A), RS1001553235 (6:25778243 C>T)
Disease associations
OMIM: gene MIM:604216 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
73 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001231_8 | Carotid intima media thickness | 8.000000e-08 |
| GCST001247_16 | Cardiovascular disease risk factors | 4.000000e-09 |
| GCST002594_28 | Neurofibrillary tangles | 8.000000e-06 |
| GCST002829_11 | Urate levels in overweight individuals | 1.000000e-07 |
| GCST002829_32 | Urate levels in overweight individuals | 4.000000e-15 |
| GCST002829_42 | Urate levels in overweight individuals | 1.000000e-09 |
| GCST002830_1 | Urate levels in lean individuals | 9.000000e-06 |
| GCST002830_26 | Urate levels in lean individuals | 3.000000e-13 |
| GCST002830_8 | Urate levels in lean individuals | 1.000000e-11 |
| GCST004521_113 | Autism spectrum disorder or schizophrenia | 3.000000e-19 |
| GCST004521_169 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_69 | Autism spectrum disorder or schizophrenia | 8.000000e-24 |
| GCST004521_83 | Autism spectrum disorder or schizophrenia | 1.000000e-13 |
| GCST004748_54 | Lung cancer | 2.000000e-08 |
| GCST005316_415 | Intelligence (MTAG) | 4.000000e-09 |
| GCST006896_14 | Free thyroxine concentration | 6.000000e-14 |
| GCST006945_7 | Feeling guilty | 1.000000e-08 |
| GCST007201_418 | Schizophrenia | 7.000000e-13 |
| GCST007400_17 | Systemic lupus erythematosus | 1.000000e-24 |
| GCST008970_1 | Gout | 8.000000e-32 |
| GCST008972_164 | Urate levels | 4.000000e-11 |
| GCST009733_101 | Urinary metabolite levels in chronic kidney disease | 4.000000e-11 |
| GCST009733_116 | Urinary metabolite levels in chronic kidney disease | 1.000000e-39 |
| GCST009733_133 | Urinary metabolite levels in chronic kidney disease | 1.000000e-32 |
| GCST009733_136 | Urinary metabolite levels in chronic kidney disease | 4.000000e-14 |
| GCST009733_18 | Urinary metabolite levels in chronic kidney disease | 2.000000e-20 |
| GCST009733_187 | Urinary metabolite levels in chronic kidney disease | 1.000000e-13 |
| GCST009733_194 | Urinary metabolite levels in chronic kidney disease | 6.000000e-13 |
| GCST009733_196 | Urinary metabolite levels in chronic kidney disease | 2.000000e-11 |
| GCST009733_199 | Urinary metabolite levels in chronic kidney disease | 3.000000e-13 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
| EFO:0006797 | neurofibrillary tangles measurement |
| EFO:0004531 | urate measurement |
| EFO:0004337 | intelligence |
| EFO:0009595 | guilt measurement |
| EFO:0005116 | urinary metabolite measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11754288 | SLC17A1, SLC17A4 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Type I sodium-phosphate co-transporters
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol A | increases methylation, affects cotreatment | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol S | affects methylation | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Troglitazone | decreases expression | 1 |
| Ethanol | decreases expression | 1 |
| Cadmium | decreases expression, increases response to substance | 1 |
| Endosulfan | decreases expression, affects cotreatment | 1 |
| Estradiol | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Valproic Acid | decreases expression, decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
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): atherosclerosis, autism spectrum disorder, gout, lung carcinoma, systemic lupus erythematosus