SLC22A17
gene geneOn this page
Also known as BOCTBOITNGALR
Summary
SLC22A17 (solute carrier family 22 member 17, HGNC:23095) is a protein-coding gene on chromosome 14q11.2, encoding Solute carrier family 22 member 17 (Q8WUG5). Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport.
Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in siderophore transport. Located in organelle membrane and plasma membrane.
Source: NCBI Gene 51310 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 98 total
- MANE Select transcript:
NM_016609
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23095 |
| Approved symbol | SLC22A17 |
| Name | solute carrier family 22 member 17 |
| Location | 14q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BOCT, BOIT, NGALR |
| Ensembl gene | ENSG00000092096 |
| Ensembl biotype | protein_coding |
| OMIM | 611461 |
| Entrez | 51310 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 4 retained_intron, 4 nonsense_mediated_decay, 2 protein_coding
ENST00000206544, ENST00000354772, ENST00000397260, ENST00000397267, ENST00000473917, ENST00000474057, ENST00000474774, ENST00000556803, ENST00000557699, ENST00000636431
RefSeq mRNA: 3 — MANE Select: NM_016609
NM_001289050, NM_016609, NM_020372
CCDS: CCDS9593, CCDS9594
Canonical transcript exons
ENST00000354772 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001856963 | 23346318 | 23346936 |
| ENSE00003536059 | 23351948 | 23352451 |
| ENSE00003797123 | 23352646 | 23352887 |
| ENSE00003802859 | 23348161 | 23348306 |
| ENSE00003803339 | 23347514 | 23347731 |
| ENSE00003803458 | 23347101 | 23347212 |
| ENSE00003804026 | 23351752 | 23351855 |
| ENSE00003805957 | 23347891 | 23347996 |
| ENSE00003806276 | 23348506 | 23348671 |
| ENSE00003806342 | 23349272 | 23349426 |
Expression profiles
Bgee: expression breadth ubiquitous, 212 present calls, max score 99.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.5707 / max 741.0036, expressed in 1366 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142355 | 29.7706 | 1357 |
| 142354 | 2.0871 | 459 |
| 142353 | 0.4027 | 180 |
| 142351 | 0.2270 | 130 |
| 142352 | 0.0832 | 41 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 99.45 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.36 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.32 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.18 | gold quality |
| pituitary gland | UBERON:0000007 | 98.91 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.66 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.66 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.66 | gold quality |
| cerebellum | UBERON:0002037 | 98.64 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.57 | gold quality |
| hypothalamus | UBERON:0001898 | 98.54 | gold quality |
| amygdala | UBERON:0001876 | 98.27 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.26 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.98 | gold quality |
| frontal cortex | UBERON:0001870 | 97.92 | gold quality |
| frontal lobe | UBERON:0016525 | 97.92 | gold quality |
| neocortex | UBERON:0001950 | 97.82 | gold quality |
| putamen | UBERON:0001874 | 97.76 | gold quality |
| forebrain | UBERON:0001890 | 97.50 | gold quality |
| brain | UBERON:0000955 | 97.39 | gold quality |
| telencephalon | UBERON:0001893 | 97.38 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.29 | gold quality |
| cortical plate | UBERON:0005343 | 97.24 | gold quality |
| spinal cord | UBERON:0002240 | 97.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.10 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.85 | gold quality |
| temporal lobe | UBERON:0001871 | 96.57 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 839.42 |
| E-GEOD-81608 | yes | 139.68 |
| E-GEOD-81547 | yes | 27.29 |
| E-GEOD-84465 | yes | 26.77 |
| E-GEOD-83139 | yes | 9.72 |
| E-ANND-3 | yes | 6.91 |
| E-ENAD-17 | no | 26.52 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): LCN2, RUNX1, RUNX3
miRNA regulators (miRDB)
12 targeting SLC22A17, 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-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-6776-5P | 98.54 | 67.43 | 1304 |
| HSA-MIR-5581-5P | 97.91 | 66.50 | 965 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-4653-5P | 97.22 | 67.72 | 1429 |
Literature-anchored findings (GeneRIF, showing 13)
- NGALR hypomethylation contributes to its expression in esophageal carcinomas and that this overexpression may play a role in the pathogenesis of esophageal carcinomas. (PMID:19047093)
- This study suggested that NGAL and NGALR expression are frequently up-regulated in gliomas, and are closely associated with poor clinical outcome. (PMID:21184133)
- Neutrophil gelatinase-associated lipocalin receptor (NGALR) is differentially expressed in human glomerular disease and is significantly up-regulated by Il-1beta in HMC via MAPK/ERK activation. (PMID:21305251)
- These results suggested that SLC22A17, in cooperation with LCN2, to be involved in the acquisition of aggressive behavior among endometrial carcinoma cells. (PMID:21763306)
- NGAL and NGALR expression might be served as novel prognostic factors and potential therapeutic targets in Hepatocellular carcinoma. (PMID:22728279)
- No significant difference was found in the expressions of NGALR mRNA in placenta among moderate preeclampsia group, severe preeclampsia group and control group. (PMID:22932106)
- Lipocalin 2 might restore the health and regeneration potential of MSCs by decreasing senescence (PMID:24452457)
- Two novel variants in SLC22A17 and SLC22A7 were significantly associated with anthracycline-induced cardiotoxicity. (PMID:26230641)
- Biochemical and Structural Characterization of the Interaction between the Siderocalin NGAL/LCN2 (Neutrophil Gelatinase-associated Lipocalin/Lipocalin 2) and the N-terminal Domain of Its Endocytic Receptor SLC22A17. (PMID:26635366)
- Results showed the expression levels of NGAL and NGALR significantly downregulated in clear cell renal cell carcinoma samples. (PMID:30138675)
- Identification of immune cells and mRNA associated with prognosis of gastric cancer. (PMID:32164594)
- The mRNA of solute carrier family 22, member 17 (SLC22A17) plays the potential diagnostic and prognostic role in advantage non-small cell lung cancer patients. (PMID:38391165)
- SLC22A17 as a Cell Death-Linked Regulator of Tight Junctions in Cerebral Ischemia. (PMID:38738428)
Cross-species orthologs
42 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc22a17 | ENSMUSG00000022199 |
| rattus_norvegicus | Slc22a17 | ENSRNOG00000016414 |
| drosophila_melanogaster | Orct | FBGN0019952 |
| drosophila_melanogaster | CG15221 | FBGN0030331 |
| drosophila_melanogaster | Balat | FBGN0033778 |
| drosophila_melanogaster | CG5592 | FBGN0035645 |
| drosophila_melanogaster | CG10486 | FBGN0035647 |
| drosophila_melanogaster | CG14691 | FBGN0037829 |
| drosophila_melanogaster | CG14855 | FBGN0038260 |
| drosophila_melanogaster | CG14856 | FBGN0038261 |
| drosophila_melanogaster | CG14857 | FBGN0038262 |
| drosophila_melanogaster | CG12783 | FBGN0038448 |
| drosophila_melanogaster | CG7333 | FBGN0038715 |
| drosophila_melanogaster | CG7342 | FBGN0038716 |
| drosophila_melanogaster | CG17751 | FBGN0038717 |
| drosophila_melanogaster | CG17752 | FBGN0038718 |
| drosophila_melanogaster | CG16727 | FBGN0038719 |
| drosophila_melanogaster | CG6231 | FBGN0038720 |
| drosophila_melanogaster | CG4465 | FBGN0038750 |
| drosophila_melanogaster | CG4462 | FBGN0038752 |
| drosophila_melanogaster | CG4459 | FBGN0038753 |
| drosophila_melanogaster | CG6356 | FBGN0039178 |
| drosophila_melanogaster | CG3690 | FBGN0040350 |
| drosophila_melanogaster | CG31103 | FBGN0051103 |
| drosophila_melanogaster | CG31106 | FBGN0051106 |
| drosophila_melanogaster | CG31272 | FBGN0051272 |
| drosophila_melanogaster | CG33233 | FBGN0053233 |
| drosophila_melanogaster | CG33234 | FBGN0053234 |
| drosophila_melanogaster | Orct2 | FBGN0086365 |
| drosophila_melanogaster | CG42269 | FBGN0259164 |
| drosophila_melanogaster | CG44098 | FBGN0264907 |
| caenorhabditis_elegans | WBGENE00003837 | |
| caenorhabditis_elegans | oct-1 | WBGENE00003842 |
| caenorhabditis_elegans | WBGENE00003843 | |
| caenorhabditis_elegans | WBGENE00006220 | |
| caenorhabditis_elegans | WBGENE00008110 | |
| caenorhabditis_elegans | WBGENE00011456 | |
| caenorhabditis_elegans | WBGENE00014127 | |
| caenorhabditis_elegans | WBGENE00017751 | |
| caenorhabditis_elegans | WBGENE00019408 | |
| caenorhabditis_elegans | WBGENE00020701 | |
| caenorhabditis_elegans | WBGENE00044455 |
Paralogs (22): SLC22A16 (ENSG00000004809), SLC22A2 (ENSG00000112499), SLC22A7 (ENSG00000137204), SLC22A23 (ENSG00000137266), SLC22A14 (ENSG00000144671), SLC22A3 (ENSG00000146477), SLC22A8 (ENSG00000149452), SLC22A9 (ENSG00000149742), SVOPL (ENSG00000157703), SLC22A15 (ENSG00000163393), SVOP (ENSG00000166111), SLC22A11 (ENSG00000168065), SLC22A13 (ENSG00000172940), SLC22A1 (ENSG00000175003), SLC22A10 (ENSG00000184999), SLC22A25 (ENSG00000196600), SLC22A4 (ENSG00000197208), SLC22A5 (ENSG00000197375), SLC22A24 (ENSG00000197658), SLC22A12 (ENSG00000197891), SLC22A6 (ENSG00000197901), SLC22A31 (ENSG00000259803)
Protein
Protein identifiers
Solute carrier family 22 member 17 — Q8WUG5 (reviewed: Q8WUG5)
Alternative names: 24p3 receptor, Brain-type organic cation transporter, Lipocalin-2 receptor, Neutrophil gelatinase-associated lipocalin receptor
All UniProt accessions (5): Q8WUG5, A0A1B0GUC0, A0A1B0GUP4, A0A1B0GVR9, H9KVA1
UniProt curated annotations — full annotation on UniProt →
Function. Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis.
Subcellular location. Cell membrane. Vacuole membrane.
Tissue specificity. Expressed in brain.
Induction. Expression is activated by RUNX3. Repressed by the oncoprotein BCR-ABL; BCR-ABL misregulates expression by inducing a switch in binding from RUNX3 to RUNX1, a repressor of 24p3R expression, through a Ras signaling pathway.
Similarity. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WUG5-1 | 1, NgalR-1 | yes |
| Q8WUG5-2 | 2, NgalR-2 | |
| Q8WUG5-3 | 3, NgalR-3 |
RefSeq proteins (3): NP_001275979, NP_057693, NP_065105 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005828 | MFS_sugar_transport-like | Family |
| IPR005829 | Sugar_transporter_CS | Conserved_site |
| IPR020846 | MFS_dom | Domain |
Pfam: PF00083
UniProt features (23 total): transmembrane region 11, splice variant 3, sequence conflict 3, compositionally biased region 2, glycosylation site 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUG5-F1 | 71.34 | 0.29 |
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 (2): 134, 143
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-917937 | Iron uptake and transport |
| R-HSA-382551 | Transport of small molecules |
MSigDB gene sets: 116 (showing top):
CCAWYNNGAAR_UNKNOWN, GOBP_IRON_COORDINATION_ENTITY_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_TRANSITION_METAL_ION_TRANSPORT, GCANCTGNY_MYOD_Q6, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, GOBP_IRON_ION_TRANSPORT, CHANDRAN_METASTASIS_DN, CAGCTG_AP4_Q5, GOBP_MONOATOMIC_CATION_TRANSPORT, TGCTGAY_UNKNOWN, AAAGACA_MIR511, TGGNNNNNNKCCAR_UNKNOWN, GOBP_MONOATOMIC_ION_HOMEOSTASIS, POU3F2_02
GO Biological Process (5): intracellular iron ion homeostasis (GO:0006879), siderophore transport (GO:0015891), monoatomic ion transport (GO:0006811), iron ion transport (GO:0006826), transmembrane transport (GO:0055085)
GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)
GO Cellular Component (5): vacuolar membrane (GO:0005774), plasma membrane (GO:0005886), organelle membrane (GO:0031090), vacuole (GO:0005773), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| membrane | 2 |
| intracellular monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| iron coordination entity transport | 1 |
| transition metal ion transport | 1 |
| cellular process | 1 |
| signaling receptor activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| binding | 1 |
| vacuole | 1 |
| bounding membrane of organelle | 1 |
| cell periphery | 1 |
| membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1120 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC22A17 | LCN2 | P30150 | 994 |
| SLC22A17 | STXBP6 | Q8NFX7 | 845 |
| SLC22A17 | COCH | O43405 | 830 |
| SLC22A17 | LRP2 | P98164 | 708 |
| SLC22A17 | SLC67A1 | Q96BI1 | 573 |
| SLC22A17 | ABL1 | P00519 | 544 |
| SLC22A17 | LTF | P02788 | 527 |
| SLC22A17 | ALB | P02768 | 495 |
| SLC22A17 | BCL2L11 | O43521 | 490 |
| SLC22A17 | SLC22A14 | Q9Y267 | 477 |
| SLC22A17 | SLC22A15 | Q8IZD6 | 476 |
| SLC22A17 | SLC22A25 | Q6T423 | 462 |
| SLC22A17 | SLC22A10 | Q63ZE4 | 427 |
| SLC22A17 | IL3 | P08700 | 423 |
| SLC22A17 | BDH2 | Q9BUT1 | 420 |
| SLC22A17 | SLC22A11 | Q9NSA0 | 420 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| P4HB | SLC22A17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC22A17 | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC22A17 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC22A17 | NUFIP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | SLC22A17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC1A4 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A17 | EMC8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (46): SLC22A17 (Affinity Capture-MS), SLC22A17 (Two-hybrid), SLC22A17 (Affinity Capture-MS), SLC22A17 (Two-hybrid), SLC22A17 (Co-fractionation), SLC22A17 (Co-fractionation), SLC22A17 (Affinity Capture-MS), ACADVL (Affinity Capture-MS), ARL6IP6 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), C1GALT1C1 (Affinity Capture-MS), CCDC47 (Affinity Capture-MS), CLPTM1L (Affinity Capture-MS), CYB5D2 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS)
ESM2 similar proteins: A4FV98, A5D7B1, A5PK51, A6QLN9, A8MUP2, D3ZVU9, O15527, O35595, O75078, O95848, P57775, Q05B60, Q06643, Q14728, Q14CX5, Q1LZB9, Q27HK4, Q2T9T5, Q2TBS1, Q3UGX3, Q4R3I0, Q4V892, Q58CT4, Q5E9H2, Q5RCI5, Q5SUV1, Q5TM22, Q642A6, Q6IA17, Q6PCB0, Q6XQN6, Q862Z7, Q8N8L6, Q8R2R5, Q8R2Z5, Q8R366, Q8WUG5, Q95JH0, Q95JH2, Q969P0
Diamond homologs: A1A5C7, A6NKX4, Q3SZQ2, Q3UHH2, Q8WUG5, Q9D9E0, Q9P290, Q9QZG1, A7MBE0, C0SPB2, Q0WUU6, Q3YAW7, Q46909, Q5RC45, Q5RLM2, Q96S37, Q9Y226, O02713, O75751, O77504, O88446, Q9VCA2, Q9WTW5, A0A3Q2IDB4, A0A8B7HA97, A6NK97, A6QLW8, B2GV36, G1SZD9, O08966, O15244, O15245, O35956, O57379, O70577, O70594, O76082, O88909, Q1RPP5, Q28ES4
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 | 87 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1386 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:23346932:GGCCC:G | acceptor_gain | 1.0000 |
| 14:23346933:GCCC:G | acceptor_gain | 1.0000 |
| 14:23346934:CCC:C | acceptor_gain | 1.0000 |
| 14:23346934:CCCC:C | acceptor_gain | 1.0000 |
| 14:23346935:CC:C | acceptor_gain | 1.0000 |
| 14:23346935:CCC:C | acceptor_gain | 1.0000 |
| 14:23346936:CC:C | acceptor_gain | 1.0000 |
| 14:23346937:C:CC | acceptor_gain | 1.0000 |
| 14:23346937:C:T | acceptor_gain | 1.0000 |
| 14:23346938:T:C | acceptor_loss | 1.0000 |
| 14:23347096:CTCAC:C | donor_loss | 1.0000 |
| 14:23347097:TCA:T | donor_loss | 1.0000 |
| 14:23347098:CA:C | donor_loss | 1.0000 |
| 14:23347099:A:AC | donor_gain | 1.0000 |
| 14:23347099:ACCGG:A | donor_loss | 1.0000 |
| 14:23347100:C:CC | donor_gain | 1.0000 |
| 14:23347100:CCGGA:C | donor_gain | 1.0000 |
| 14:23347208:CAGAT:C | acceptor_gain | 1.0000 |
| 14:23347211:ATCT:A | acceptor_loss | 1.0000 |
| 14:23347212:TCTG:T | acceptor_loss | 1.0000 |
| 14:23347213:C:CC | acceptor_gain | 1.0000 |
| 14:23347213:C:CG | acceptor_loss | 1.0000 |
| 14:23347214:T:A | acceptor_loss | 1.0000 |
| 14:23347889:A:AC | donor_gain | 1.0000 |
| 14:23347890:C:CC | donor_gain | 1.0000 |
| 14:23347997:C:CC | acceptor_gain | 1.0000 |
| 14:23347998:T:C | acceptor_gain | 1.0000 |
| 14:23348156:CTTA:C | donor_loss | 1.0000 |
| 14:23348158:TA:T | donor_loss | 1.0000 |
| 14:23348159:A:AC | donor_gain | 1.0000 |
AlphaMissense
3996 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:23346798:G:C | S489R | 0.997 |
| 14:23346798:G:T | S489R | 0.997 |
| 14:23346800:T:G | S489R | 0.997 |
| 14:23347113:G:T | P439H | 0.997 |
| 14:23347901:C:G | G312R | 0.997 |
| 14:23348559:C:A | W213C | 0.997 |
| 14:23348559:C:G | W213C | 0.997 |
| 14:23347113:G:C | P439R | 0.996 |
| 14:23347139:G:C | S430R | 0.996 |
| 14:23347139:G:T | S430R | 0.996 |
| 14:23347141:T:G | S430R | 0.996 |
| 14:23348271:A:G | L243P | 0.996 |
| 14:23348561:A:G | W213R | 0.996 |
| 14:23348561:A:T | W213R | 0.996 |
| 14:23346787:A:G | L493P | 0.995 |
| 14:23347174:C:G | G419R | 0.995 |
| 14:23347174:C:T | G419R | 0.995 |
| 14:23348275:A:G | W242R | 0.995 |
| 14:23348275:A:T | W242R | 0.995 |
| 14:23348283:G:A | S239F | 0.995 |
| 14:23348666:C:T | E178K | 0.995 |
| 14:23351782:C:T | G114D | 0.995 |
| 14:23346821:A:G | C482R | 0.994 |
| 14:23347122:T:A | E436V | 0.994 |
| 14:23347173:C:T | G419E | 0.994 |
| 14:23347900:C:T | G312D | 0.994 |
| 14:23351853:C:A | W90C | 0.994 |
| 14:23351853:C:G | W90C | 0.994 |
| 14:23347586:G:T | R364S | 0.993 |
| 14:23347588:C:A | G363V | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1001307541 (14:23350539 C>G,T), RS1002719400 (14:23351676 T>A), RS1002837165 (14:23354497 C>T), RS1003585770 (14:23353370 C>A), RS1003601681 (14:23353359 C>G), RS1003870019 (14:23349673 A>G), RS1004373633 (14:23346239 G>A,C), RS1005229035 (14:23349129 A>C,G), RS1005778883 (14:23352759 C>G,T), RS1005959543 (14:23345872 T>G), RS1006037139 (14:23346855 A>G), RS1006075028 (14:23351383 T>C), RS1006767828 (14:23347790 A>G), RS1006778255 (14:23353975 T>C), RS1006919176 (14:23353670 G>A)
Disease associations
OMIM: gene MIM:611461 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003248_4 | Body mass index | 3.000000e-06 |
| GCST90020028_1236 | Hip circumference adjusted for BMI | 4.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008039 | BMI-adjusted hip circumference |
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 |
|---|---|---|---|---|---|
| rs4982753 | SLC22A17 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Orphan or poorly characterized SLC22 family members
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| sodium arsenite | decreases expression, decreases reaction, affects expression, affects methylation | 3 |
| bisphenol A | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acetylcysteine | decreases expression, decreases reaction | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Zidovudine | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Genistein | increases expression | 1 |
| Phytochelatins | increases uptake | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4IW | HCT116-SLC22A17-KO-c2 | Cancer cell line | Male |
| CVCL_D4IX | HCT116-SLC22A17-KO-c3 | Cancer cell line | Male |
| CVCL_D4IY | HCT116-SLC22A17-KO-c7 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.