SLC15A3
gene geneOn this page
Also known as PHT2hPTR3
Summary
SLC15A3 (solute carrier family 15 member 3, HGNC:18068) is a protein-coding gene on chromosome 11q12.2, encoding Solute carrier family 15 member 3 (Q8IY34). Proton-coupled amino-acid transporter that transports free histidine and certain di- and tripeptides, and is involved in innate immune response.
Enables dipeptide transmembrane transporter activity. Involved in dipeptide import across plasma membrane. Located in intracellular membrane-bounded organelle.
Source: NCBI Gene 51296 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 108 total
- MANE Select transcript:
NM_016582
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18068 |
| Approved symbol | SLC15A3 |
| Name | solute carrier family 15 member 3 |
| Location | 11q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PHT2, hPTR3 |
| Ensembl gene | ENSG00000110446 |
| Ensembl biotype | protein_coding |
| OMIM | 610408 |
| Entrez | 51296 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 12 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000227880, ENST00000536491, ENST00000536784, ENST00000537307, ENST00000538739, ENST00000540272, ENST00000541505, ENST00000543406, ENST00000544101, ENST00000679573, ENST00000681015, ENST00000681275, ENST00000681882, ENST00000681951, ENST00000930270, ENST00000930271, ENST00000952095, ENST00000952096
RefSeq mRNA: 1 — MANE Select: NM_016582
NM_016582
CCDS: CCDS7998
Canonical transcript exons
ENST00000227880 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000851448 | 60950994 | 60952176 |
| ENSE00001628194 | 60941122 | 60941290 |
| ENSE00002486964 | 60943689 | 60943836 |
| ENSE00002506773 | 60942035 | 60942145 |
| ENSE00003505725 | 60937084 | 60937373 |
| ENSE00003635633 | 60946532 | 60946821 |
| ENSE00003649038 | 60939480 | 60939638 |
| ENSE00003677854 | 60937870 | 60938025 |
Expression profiles
Bgee: expression breadth ubiquitous, 188 present calls, max score 97.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1394 / max 814.7836, expressed in 977 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119932 | 5.5579 | 466 |
| 119927 | 0.7500 | 151 |
| 119934 | 0.7163 | 388 |
| 119924 | 0.7098 | 181 |
| 119935 | 0.4822 | 243 |
| 119931 | 0.3666 | 112 |
| 119923 | 0.3331 | 95 |
| 119928 | 0.3288 | 100 |
| 119930 | 0.2399 | 103 |
| 119929 | 0.2236 | 74 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 97.33 | gold quality |
| monocyte | CL:0000576 | 97.10 | gold quality |
| leukocyte | CL:0000738 | 96.61 | gold quality |
| tibial nerve | UBERON:0001323 | 96.59 | gold quality |
| mononuclear cell | CL:0000842 | 96.54 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.47 | gold quality |
| right lung | UBERON:0002167 | 96.23 | gold quality |
| spleen | UBERON:0002106 | 96.05 | gold quality |
| apex of heart | UBERON:0002098 | 95.41 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.28 | gold quality |
| gall bladder | UBERON:0002110 | 94.52 | gold quality |
| right ovary | UBERON:0002118 | 93.78 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.74 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.56 | gold quality |
| right coronary artery | UBERON:0001625 | 93.18 | gold quality |
| left ovary | UBERON:0002119 | 93.17 | gold quality |
| omental fat pad | UBERON:0010414 | 92.80 | gold quality |
| peritoneum | UBERON:0002358 | 92.72 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.45 | gold quality |
| lower esophagus | UBERON:0013473 | 92.43 | gold quality |
| left coronary artery | UBERON:0001626 | 92.26 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.22 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.12 | gold quality |
| blood | UBERON:0000178 | 91.92 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.86 | gold quality |
| lymph node | UBERON:0000029 | 91.74 | gold quality |
| left uterine tube | UBERON:0001303 | 91.65 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 91.56 | gold quality |
| endocervix | UBERON:0000458 | 91.33 | gold quality |
| coronary artery | UBERON:0001621 | 91.13 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 22.77 |
| E-MTAB-2983 | no | 341.37 |
| E-MTAB-5061 | no | 3.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
8 targeting SLC15A3, 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-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
| HSA-MIR-4749-3P | 96.40 | 66.24 | 798 |
Literature-anchored findings (GeneRIF, showing 5)
- PEPT1,PEPT2, PHT1, and PHT2 are expressed in human nasal epithelium. (PMID:21366347)
- Our results demonstrate that SLC15A3 is induced by viral infection to participate in intracellular RNA and DNA receptor-mediated interferon production (PMID:30069489)
- The transporters PEPT2, PHT1, and PHT2 are responsible for the uptake of carnosine into glioblastoma cells and full function of all three transporters is required for maximum uptake. (PMID:31073693)
- Substrate Transport Properties of the Human Peptide/Histidine Transporter PHT2 in Transfected MDCK Cells. (PMID:31254495)
- Oligopeptide/Histidine Transporter PHT1 and PHT2 - Function, Regulation, and Pathophysiological Implications Specifically in Immunoregulation. (PMID:37610621)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc15a3 | ENSMUSG00000024737 |
| rattus_norvegicus | Slc15a3 | ENSRNOG00000021644 |
| drosophila_melanogaster | CG2930 | FBGN0028491 |
| drosophila_melanogaster | CG9444 | FBGN0037730 |
| drosophila_melanogaster | yin | FBGN0265575 |
| caenorhabditis_elegans | WBGENE00003877 |
Paralogs (4): SLC15A1 (ENSG00000088386), SLC15A4 (ENSG00000139370), SLC15A2 (ENSG00000163406), SLC15A5 (ENSG00000188991)
Protein
Protein identifiers
Solute carrier family 15 member 3 — Q8IY34 (reviewed: Q8IY34)
Alternative names: Osteoclast transporter, Peptide transporter 3, Peptide/histidine transporter 2
All UniProt accessions (10): Q8IY34, A0A7P0T8B5, A0A7P0T8H0, A0A7P0TAX8, A0A7P0Z4G8, F5GZ36, F5H1C8, F5H251, H0YFC1, H0YG40
UniProt curated annotations — full annotation on UniProt →
Function. Proton-coupled amino-acid transporter that transports free histidine and certain di- and tripeptides, and is involved in innate immune response. Preferably binds to short peptides with a basic residue at the first position and a hydrophobic residue at the second position. Also able to transport carnosine. Involved in the detection of microbial pathogens by toll-like receptors (TLRs) and NOD-like receptors (NLRs), probably by mediating transport of bacterial peptidoglycans across the endolysosomal membrane: catalyzes the transport of certain bacterial peptidoglycans, such as muramyl dipeptide (MDP), the NOD2 ligand.
Subunit / interactions. May form a homodimer.
Subcellular location. Lysosome membrane. Endosome membrane.
Similarity. Belongs to the major facilitator superfamily. Proton-dependent oligopeptide transporter (POT/PTR) (TC 2.A.17) family.
RefSeq proteins (1): NP_057666* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000109 | POT_fam | Family |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
Pfam: PF00854
Catalyzed reactions (Rhea), 4 shown:
- N-acetyl-D-muramoyl-L-alanyl-D-isoglutamine(out) + n H(+)(out) = N-acetyl-D-muramoyl-L-alanyl-D-isoglutamine(in) + n H(+)(in) (RHEA:76371)
- L-histidine(out) + n H(+)(out) = L-histidine(in) + n H(+)(in) (RHEA:76379)
- carnosine(out) + n H(+)(out) = carnosine(in) + n H(+)(in) (RHEA:76383)
- glycylglycylglycine(out) + n H(+)(out) = glycylglycylglycine(in) + n H(+)(in) (RHEA:76391)
UniProt features (59 total): helix 20, topological domain 13, transmembrane region 12, glycosylation site 5, strand 3, turn 2, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8WX2 | ELECTRON MICROSCOPY | 3.44 |
| 8ZAT | ELECTRON MICROSCOPY | 3.54 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IY34-F1 | 80.88 | 0.42 |
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): 61, 66, 223, 356, 439
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-427975 | Proton/oligopeptide cotransporters |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425393 | |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 297 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOCC_VACUOLAR_MEMBRANE, GOBP_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_SIGNALING_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, IRF_Q6, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, BROWN_MYELOID_CELL_DEVELOPMENT_UP, VALK_AML_CLUSTER_5
GO Biological Process (10): monoatomic ion transport (GO:0006811), protein transport (GO:0015031), peptidoglycan transport (GO:0015835), innate immune response (GO:0045087), positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434), dipeptide import across plasma membrane (GO:0140206), immune system process (GO:0002376), peptide transport (GO:0015833), transmembrane transport (GO:0055085), proton transmembrane transport (GO:1902600)
GO Molecular Function (6): peptide:proton symporter activity (GO:0015333), peptidoglycan transmembrane transporter activity (GO:0015647), dipeptide transmembrane transporter activity (GO:0071916), protein binding (GO:0005515), symporter activity (GO:0015293), transmembrane transporter activity (GO:0022857)
GO Cellular Component (5): lysosomal membrane (GO:0005765), endosome membrane (GO:0010008), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transport of oligopeptides | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 4 |
| dipeptide transmembrane transport | 2 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| nitrogen compound transport | 1 |
| carbohydrate derivative transport | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| positive regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | 1 |
| nucleotide-binding oligomerization domain containing 2 signaling pathway | 1 |
| regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway | 1 |
| oligopeptide import across plasma membrane | 1 |
| biological_process | 1 |
| cellular process | 1 |
| monoatomic cation transmembrane transport | 1 |
| solute:proton symporter activity | 1 |
| peptide transmembrane transporter activity | 1 |
| peptidoglycan transport | 1 |
| macromolecule transmembrane transporter activity | 1 |
| carbohydrate derivative transmembrane transporter activity | 1 |
| oligopeptide transmembrane transporter activity | 1 |
| binding | 1 |
| secondary active transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1824 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC15A3 | CD6 | P30203 | 783 |
| SLC15A3 | CD5 | P06127 | 640 |
| SLC15A3 | CARNS1 | A5YM72 | 528 |
| SLC15A3 | SLC47A1 | Q96FL8 | 429 |
| SLC15A3 | SULT1A2 | P50226 | 426 |
| SLC15A3 | SLC6A6 | P31641 | 418 |
| SLC15A3 | SLC7A4 | O43246 | 409 |
| SLC15A3 | NOD1 | Q9Y239 | 408 |
| SLC15A3 | NOD2 | Q9HC29 | 403 |
| SLC15A3 | SLC38A5 | Q8WUX1 | 402 |
| SLC15A3 | OR6X1 | Q8NH79 | 397 |
| SLC15A3 | CNDP2 | Q96KP4 | 367 |
| SLC15A3 | SLC15A2 | Q16348 | 354 |
| SLC15A3 | SLC38A7 | Q9NVC3 | 347 |
| SLC15A3 | CNDP1 | Q96KN2 | 342 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRTAP12-2 | SLC15A3 | psi-mi:“MI:0915”(physical association) | 0.600 |
| SLC15A3 | KRTAP12-2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| SLC15A3 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP5-9 | SLC15A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC15A3 | KRTAP9-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | SLC15A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP19-2 | SLC15A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC15A3 | NOD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC15A3 | SLC15A4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC15A3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A3 | MDFI | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC15A3 | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| KRTAP12-2 | SLC15A3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC15A3 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC15A3 | KRTAP9-8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC15A3 | KRTAP19-2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC15A3 | KRTAP12-2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (414): SLC15A3 (Two-hybrid), SLC15A3 (Two-hybrid), SLC15A3 (Two-hybrid), SLC15A3 (Two-hybrid), GMCL1 (Two-hybrid), LZTS2 (Two-hybrid), KRTAP10-3 (Two-hybrid), ABCC1 (Affinity Capture-MS), ACAD9 (Affinity Capture-MS), ADAM10 (Affinity Capture-MS), ADCK4 (Affinity Capture-MS), AGPAT2 (Affinity Capture-MS), AIFM1 (Affinity Capture-MS), ALDH3A2 (Affinity Capture-MS), ALDOA (Affinity Capture-MS)
ESM2 similar proteins: A1A5Z0, A6NM10, F6S3G9, O19133, O42153, O42154, O62735, P34080, P35575, P35576, P41181, P43428, P51802, P56402, P58355, P79099, Q05B81, Q06393, Q0VC03, Q10M80, Q148G2, Q19KA1, Q29RU6, Q4LE88, Q5U2T1, Q6AZ83, Q6NSQ9, Q6RZ07, Q71B07, Q7ZVP8, Q866G7, Q8BHH1, Q8BMD6, Q8BPX9, Q8CHJ2, Q8CHM1, Q8IXF9, Q8IY34, Q8NBQ7, Q924V4
Diamond homologs: A6QQL0, O09014, Q68F72, Q8BPX9, Q8IY34, Q8N697, Q91W98, Q924V4, P91679, O01840
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
108 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1123 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:60937866:TCA:T | donor_loss | 1.0000 |
| 11:60937867:CACCA:C | donor_loss | 1.0000 |
| 11:60937868:A:AC | donor_gain | 1.0000 |
| 11:60937868:A:T | donor_loss | 1.0000 |
| 11:60937869:C:CC | donor_gain | 1.0000 |
| 11:60937869:C:T | donor_loss | 1.0000 |
| 11:60939474:GGGTA:G | donor_loss | 1.0000 |
| 11:60939475:GGTAC:G | donor_loss | 1.0000 |
| 11:60939476:GTACC:G | donor_loss | 1.0000 |
| 11:60939477:TA:T | donor_loss | 1.0000 |
| 11:60939478:A:AG | donor_loss | 1.0000 |
| 11:60939502:A:AC | donor_gain | 1.0000 |
| 11:60939503:C:CC | donor_gain | 1.0000 |
| 11:60939634:GACTC:G | acceptor_gain | 1.0000 |
| 11:60939636:CTC:C | acceptor_gain | 1.0000 |
| 11:60939637:TC:T | acceptor_gain | 1.0000 |
| 11:60939638:CC:C | acceptor_gain | 1.0000 |
| 11:60939639:C:CC | acceptor_gain | 1.0000 |
| 11:60939639:CTGGT:C | acceptor_loss | 1.0000 |
| 11:60939642:G:C | acceptor_gain | 1.0000 |
| 11:60939642:G:GC | acceptor_gain | 1.0000 |
| 11:60939651:C:CT | acceptor_gain | 1.0000 |
| 11:60943684:CTCA:C | donor_loss | 1.0000 |
| 11:60943685:TCA:T | donor_loss | 1.0000 |
| 11:60943686:CAC:C | donor_loss | 1.0000 |
| 11:60943687:A:AC | donor_gain | 1.0000 |
| 11:60943687:A:T | donor_loss | 1.0000 |
| 11:60943688:C:CC | donor_gain | 1.0000 |
| 11:60943688:C:CT | donor_loss | 1.0000 |
| 11:60943837:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3719 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:60939620:C:G | R432P | 0.995 |
| 11:60939502:A:C | S471R | 0.994 |
| 11:60939502:A:T | S471R | 0.994 |
| 11:60939504:T:G | S471R | 0.994 |
| 11:60939629:T:A | E429V | 0.994 |
| 11:60939621:G:T | R432S | 0.993 |
| 11:60942111:A:G | L344P | 0.992 |
| 11:60937972:C:G | G497R | 0.991 |
| 11:60938013:G:T | A483D | 0.991 |
| 11:60939487:G:C | S476R | 0.991 |
| 11:60939487:G:T | S476R | 0.991 |
| 11:60939489:T:G | S476R | 0.991 |
| 11:60941278:A:G | W374R | 0.991 |
| 11:60941278:A:T | W374R | 0.991 |
| 11:60938016:A:G | F482S | 0.990 |
| 11:60951033:G:C | S173R | 0.990 |
| 11:60951033:G:T | S173R | 0.990 |
| 11:60951035:T:G | S173R | 0.990 |
| 11:60951231:G:C | S107R | 0.990 |
| 11:60951231:G:T | S107R | 0.990 |
| 11:60951233:T:G | S107R | 0.990 |
| 11:60937950:C:T | G504E | 0.989 |
| 11:60942122:C:A | Q340H | 0.989 |
| 11:60942122:C:G | Q340H | 0.989 |
| 11:60939630:C:T | E429K | 0.988 |
| 11:60946765:G:C | S205R | 0.987 |
| 11:60946765:G:T | S205R | 0.987 |
| 11:60946767:T:G | S205R | 0.987 |
| 11:60937944:C:T | G506D | 0.986 |
| 11:60939628:C:A | E429D | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000073951 (11:60944643 T>C), RS1000239315 (11:60938416 T>C,G), RS1000377494 (11:60940713 A>G), RS1000901961 (11:60948621 C>T), RS1001007311 (11:60952386 AT>A,ATT), RS1001124587 (11:60952158 C>A,G,T), RS1001422974 (11:60939865 A>G), RS1001481018 (11:60943467 G>A), RS1001685647 (11:60946972 A>G), RS1001754682 (11:60938327 A>C,G), RS1002032320 (11:60944026 G>C), RS1002216677 (11:60953996 G>A), RS1002364085 (11:60948360 G>A), RS1002411402 (11:60951953 C>A), RS1002632140 (11:60942882 G>A)
Disease associations
OMIM: gene MIM:610408 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006192_46 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 3.000000e-06 |
| GCST006195_89 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 3.000000e-09 |
| GCST010002_239 | Refractive error | 2.000000e-24 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0006527 | smoking status 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 — SLC15 family of peptide transporters
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases mutagenesis, affects methylation, increases expression, increases methylation | 3 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arbutin | decreases expression | 1 |
| Benzene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Dronabinol | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Asbestos, Serpentine | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | increases abundance, decreases 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_B1HK | Abcam A-549 SLC15A3 KO | Cancer cell line | Male |
| CVCL_E0NK | Ubigene HeLa SLC15A3 KO | 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.