SLC22A23
geneOn this page
Also known as FLJ22174
Summary
SLC22A23 (solute carrier family 22 member 23, HGNC:21106) is a protein-coding gene on chromosome 6p25.2, encoding Solute carrier family 22 member 23 (A1A5C7).
SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).
Source: NCBI Gene 63027 — RefSeq curated summary.
At a glance
- GWAS associations: 59
- Clinical variants (ClinVar): 89 total
- MANE Select transcript:
NM_015482
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21106 |
| Approved symbol | SLC22A23 |
| Name | solute carrier family 22 member 23 |
| Location | 6p25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22174 |
| Ensembl gene | ENSG00000137266 |
| Ensembl biotype | protein_coding |
| OMIM | 611697 |
| Entrez | 63027 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000380298, ENST00000380302, ENST00000406686, ENST00000433689, ENST00000436008, ENST00000467144, ENST00000467177, ENST00000482874, ENST00000485307, ENST00000490273, ENST00000496753, ENST00000497691
RefSeq mRNA: 8 — MANE Select: NM_015482
NM_001286455, NM_001286456, NM_001382317, NM_001382318, NM_001382319, NM_001382321, NM_015482, NM_021945
CCDS: CCDS34331, CCDS47363, CCDS75389
Canonical transcript exons
ENST00000406686 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001949115 | 3268973 | 3273412 |
| ENSE00003475640 | 3289764 | 3289866 |
| ENSE00003483185 | 3298091 | 3298218 |
| ENSE00003498751 | 3410188 | 3410342 |
| ENSE00003525367 | 3415752 | 3415855 |
| ENSE00003541282 | 3323834 | 3324002 |
| ENSE00003600910 | 3285079 | 3285111 |
| ENSE00003634468 | 3286859 | 3287091 |
| ENSE00003686626 | 3283852 | 3283975 |
| ENSE00003907731 | 3455906 | 3457050 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.4819 / max 57.4924, expressed in 1232 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 71475 | 2.1543 | 932 |
| 71476 | 1.2880 | 702 |
| 71469 | 0.2212 | 103 |
| 71472 | 0.1902 | 90 |
| 71474 | 0.1810 | 77 |
| 71473 | 0.1541 | 76 |
| 71465 | 0.0991 | 35 |
| 71471 | 0.0845 | 23 |
| 71470 | 0.0830 | 39 |
| 71464 | 0.0223 | 7 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.32 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.21 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.01 | gold quality |
| secondary oocyte | CL:0000655 | 94.75 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.69 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.55 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.45 | gold quality |
| bronchus | UBERON:0002185 | 93.47 | gold quality |
| gingiva | UBERON:0001828 | 93.39 | gold quality |
| cortical plate | UBERON:0005343 | 92.60 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.84 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.11 | gold quality |
| jejunal mucosa | UBERON:0000399 | 89.99 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.25 | gold quality |
| colonic mucosa | UBERON:0000317 | 89.23 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.09 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.72 | gold quality |
| esophagus mucosa | UBERON:0002469 | 88.48 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 88.40 | gold quality |
| duodenum | UBERON:0002114 | 88.33 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 88.08 | gold quality |
| spinal cord | UBERON:0002240 | 88.00 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.97 | gold quality |
| corpus callosum | UBERON:0002336 | 87.39 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 87.26 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.19 | gold quality |
| right uterine tube | UBERON:0001302 | 87.17 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 86.98 | gold quality |
| sperm | CL:0000019 | 86.87 | gold quality |
| transverse colon | UBERON:0001157 | 86.87 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7381 | yes | 438.79 |
| E-CURD-119 | yes | 31.77 |
| E-ANND-3 | yes | 8.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
194 targeting SLC22A23, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
Literature-anchored findings (GeneRIF, showing 2)
- Genetic variations in the SLC22A23 locus contribute to the susceptibility to inflammatory bowel disease in a small fraction of white patients. (PMID:24740203)
- Circular RNA CircSLC22A23 Promotes Gastric Cancer Progression by Activating HNRNPU Expression. (PMID:38400886)
Cross-species orthologs
43 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc22a23 | ENSDARG00000078856 |
| mus_musculus | Slc22a23 | ENSMUSG00000038267 |
| rattus_norvegicus | Slc22a23 | ENSRNOG00000017210 |
| 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), SLC22A17 (ENSG00000092096), SLC22A2 (ENSG00000112499), SLC22A7 (ENSG00000137204), 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 23 — A1A5C7 (reviewed: A1A5C7)
All UniProt accessions (5): A1A5C7, C9IZW5, C9J4Z0, F8WBC7, H7C4T9
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Similarity. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A1A5C7-1 | 1 | yes |
| A1A5C7-2 | 2 | |
| A1A5C7-3 | 3 | |
| A1A5C7-4 | 4 |
RefSeq proteins (7): NP_001273384, NP_001273385, NP_001369246, NP_001369247, NP_001369248, NP_056297, NP_068764 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005828 | MFS_sugar_transport-like | Family |
| IPR005829 | Sugar_transporter_CS | Conserved_site |
| IPR020846 | MFS_dom | Domain |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
Pfam: PF00083
UniProt features (19 total): transmembrane region 10, splice variant 3, region of interest 2, glycosylation site 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A1A5C7-F1 | 73.39 | 0.34 |
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): 24, 279
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 200 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GGTGTGT_MIR329, IVANOVA_HEMATOPOIESIS_MATURE_CELL, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, chr6p25, LE_EGR2_TARGETS_UP, CORRE_MULTIPLE_MYELOMA_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, HOOI_ST7_TARGETS_DN, ACTTTAT_MIR1425P, GOBP_TRANSMEMBRANE_TRANSPORT, XU_GH1_AUTOCRINE_TARGETS_DN, ATGTACA_MIR493, MODULE_534
GO Biological Process (2): monoatomic ion transport (GO:0006811), transmembrane transport (GO:0055085)
GO Molecular Function (2): transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| cellular process | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC22A23 | SLC67A1 | Q96BI1 | 649 |
| SLC22A23 | SLC22A25 | Q6T423 | 502 |
| SLC22A23 | SLC22A15 | Q8IZD6 | 498 |
| SLC22A23 | SLC22A14 | Q9Y267 | 487 |
| SLC22A23 | NUBPL | Q8TB37 | 487 |
| SLC22A23 | SLC22A10 | Q63ZE4 | 459 |
| SLC22A23 | CHLSN | Q9BRJ6 | 449 |
| SLC22A23 | SLC18B1 | Q6NT16 | 448 |
| SLC22A23 | PXDC1 | Q5TGL8 | 445 |
| SLC22A23 | SLCO3A1 | Q9UIG8 | 441 |
| SLC22A23 | CFAP74 | Q9C0B2 | 435 |
| SLC22A23 | SLC22A11 | Q9NSA0 | 431 |
| SLC22A23 | RPAP3 | Q9H6T3 | 423 |
| SLC22A23 | SLC16A9 | Q7RTY1 | 418 |
| SLC22A23 | SLC22A2 | O15244 | 408 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC22A23 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.670 |
| NOTCH2NLA | SLC22A23 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SLC22A23 | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC22A23 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | SLC22A23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC55 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF10C | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS8 | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| KRTCAP3 | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A23 | BMP4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A23 | MVK | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A23 | NRP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (73): SLC22A23 (Two-hybrid), SLC22A23 (Two-hybrid), KRTAP10-8 (Two-hybrid), NOTCH2NL (Two-hybrid), SLC22A23 (Affinity Capture-MS), SLC22A23 (Affinity Capture-MS), SLC22A23 (Affinity Capture-MS), SLC22A23 (Affinity Capture-MS), BMP4 (Affinity Capture-MS), SLC22A23 (Affinity Capture-MS), SIRT2 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), KPRP (Affinity Capture-MS), TAX1BP1 (Affinity Capture-MS), DSCC1 (Affinity Capture-MS)
ESM2 similar proteins: A1A5C7, A6H7A0, B0BMW8, B0CM95, B0KWE9, B1MTH4, B2KI79, O43688, O62772, O75147, P0CK96, P35438, P35439, P52875, P57791, Q05586, Q28D01, Q2KJ29, Q3KNV8, Q3SZQ2, Q3UHH2, Q4L208, Q4V899, Q5R1P0, Q5R890, Q5SP67, Q5ZJ75, Q7TPB4, Q86YN1, Q8BTQ0, Q8C6G8, Q8C811, Q8R4D1, Q8VDI9, Q8VE98, Q90812, Q9BWV1, Q9D9E0, Q9H6U8, Q9H7D7
Diamond homologs: A1A5C7, A6NKX4, Q3SZQ2, Q3UHH2, Q8WUG5, Q9D9E0, Q9P290, Q9QZG1, A7MBE0, C0SPB2, Q0WUU6, Q3YAW7, Q46909, Q5RC45, Q5RLM2, Q96S37, Q9Y226, A9R4E0, C5BC70, D0CCT2, D0JKF6, D0JUX5, D0ZHC6, D5B5U5, E0T2N0, P0AEY8, P0AEY9, P0AEZ0, P39386, Q28ES4, Q323U7, Q51955, Q7CP73, Q8XB84, Q8XFG0, A0A161CLJ6, A1AHP3, A7ZTR5, A8A6H2, A8ACM0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2904 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:3283971:CATCC:C | acceptor_gain | 1.0000 |
| 6:3283973:TCC:T | acceptor_gain | 1.0000 |
| 6:3283974:CCC:C | acceptor_gain | 1.0000 |
| 6:3283975:CCT:C | acceptor_loss | 1.0000 |
| 6:3283976:C:CC | acceptor_gain | 1.0000 |
| 6:3283976:CT:C | acceptor_loss | 1.0000 |
| 6:3285152:C:CT | acceptor_gain | 1.0000 |
| 6:3285152:C:T | acceptor_gain | 1.0000 |
| 6:3285153:A:T | acceptor_gain | 1.0000 |
| 6:3285156:C:CT | acceptor_gain | 1.0000 |
| 6:3285157:A:T | acceptor_gain | 1.0000 |
| 6:3285160:C:CT | acceptor_gain | 1.0000 |
| 6:3285161:G:T | acceptor_gain | 1.0000 |
| 6:3286857:A:AC | donor_gain | 1.0000 |
| 6:3286858:C:CC | donor_gain | 1.0000 |
| 6:3289762:A:AC | donor_gain | 1.0000 |
| 6:3289763:C:CC | donor_gain | 1.0000 |
| 6:3289763:CG:C | donor_gain | 1.0000 |
| 6:3289862:CAGCT:C | acceptor_gain | 1.0000 |
| 6:3289865:CT:C | acceptor_gain | 1.0000 |
| 6:3289867:C:CC | acceptor_gain | 1.0000 |
| 6:3298086:CTCA:C | donor_loss | 1.0000 |
| 6:3298087:TCA:T | donor_loss | 1.0000 |
| 6:3298088:CACCT:C | donor_loss | 1.0000 |
| 6:3298090:C:CT | donor_loss | 1.0000 |
| 6:3298217:TC:T | acceptor_gain | 1.0000 |
| 6:3298218:CCT:C | acceptor_gain | 1.0000 |
| 6:3323833:CGA:C | donor_gain | 1.0000 |
| 6:3410186:A:AC | donor_gain | 1.0000 |
| 6:3410187:C:CC | donor_gain | 1.0000 |
AlphaMissense
4453 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:3273276:A:G | C614R | 0.999 |
| 6:3273371:C:T | G582D | 0.999 |
| 6:3273382:G:C | S578R | 0.999 |
| 6:3273382:G:T | S578R | 0.999 |
| 6:3273384:T:G | S578R | 0.999 |
| 6:3273399:C:G | G573R | 0.999 |
| 6:3273399:C:T | G573R | 0.999 |
| 6:3283852:C:A | R568M | 0.999 |
| 6:3283864:G:T | P564Q | 0.999 |
| 6:3283890:G:C | S555R | 0.999 |
| 6:3283890:G:T | S555R | 0.999 |
| 6:3283892:T:G | S555R | 0.999 |
| 6:3283924:C:T | G544D | 0.999 |
| 6:3283925:C:G | G544R | 0.999 |
| 6:3287061:A:C | F448L | 0.999 |
| 6:3287061:A:T | F448L | 0.999 |
| 6:3287063:A:G | F448L | 0.999 |
| 6:3298196:A:G | W369R | 0.999 |
| 6:3298196:A:T | W369R | 0.999 |
| 6:3323890:C:A | W342C | 0.999 |
| 6:3323890:C:G | W342C | 0.999 |
| 6:3415767:C:T | G248E | 0.999 |
| 6:3415768:C:G | G248R | 0.999 |
| 6:3415768:C:T | G248R | 0.999 |
| 6:3415782:C:T | G243D | 0.999 |
| 6:3415794:C:T | G239E | 0.999 |
| 6:3415795:C:G | G239R | 0.999 |
| 6:3415795:C:T | G239R | 0.999 |
| 6:3273263:A:G | L618P | 0.998 |
| 6:3273285:A:G | C611R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000017346 (6:3405481 C>A,T), RS1000058134 (6:3283963 C>G,T), RS1000087012 (6:3399056 G>A), RS1000138111 (6:3359440 C>T), RS1000138193 (6:3360524 C>T), RS1000159598 (6:3320469 C>G), RS1000166190 (6:3331022 G>A), RS1000171880 (6:3387578 G>A,T), RS1000197511 (6:3333475 G>A), RS1000202796 (6:3397753 C>G,T), RS1000203096 (6:3387873 G>A), RS1000205752 (6:3359081 C>G,T), RS1000235083 (6:3348692 C>T), RS1000249117 (6:3311083 G>T), RS1000253004 (6:3412116 A>G)
Disease associations
OMIM: gene MIM:611697 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
59 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000822_1 | Antipsychotic drug-induced QTc interval prolongation | 2.000000e-07 |
| GCST000942_1 | Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN) | 9.000000e-06 |
| GCST001762_909 | Obesity-related traits | 1.000000e-06 |
| GCST002248_8 | Fasting insulin (dietary factor interaction) | 2.000000e-06 |
| GCST002253_10 | Homeostasis model assessment of insulin resistance (dietary factor interaction) | 2.000000e-06 |
| GCST002821_13 | Survival in rectal cancer | 5.000000e-06 |
| GCST004294_7 | Nicotine dependence | 4.000000e-06 |
| GCST004302_12 | Primary biliary cholangitis | 2.000000e-07 |
| GCST004599_40 | Mean platelet volume | 8.000000e-13 |
| GCST004621_91 | Red cell distribution width | 5.000000e-10 |
| GCST005141_55 | Cognitive ability (MTAG) | 2.000000e-09 |
| GCST005142_6 | Cognitive ability | 3.000000e-06 |
| GCST005316_633 | Intelligence (MTAG) | 1.000000e-11 |
| GCST005784_1 | Bone mineral density (femoral neck) in inflammatory bowel disease | 1.000000e-07 |
| GCST006269_1160 | General cognitive ability | 3.000000e-08 |
| GCST006804_179 | Red cell distribution width | 2.000000e-08 |
| GCST009524_105 | Household income (MTAG) | 3.000000e-08 |
| GCST009524_255 | Household income (MTAG) | 3.000000e-11 |
| GCST010002_46 | Refractive error | 2.000000e-20 |
| GCST010796_1142 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_4376 | Electrocardiogram morphology (amplitude at temporal datapoints) | 6.000000e-10 |
| GCST010796_4377 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-10 |
| GCST010796_4378 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_4379 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_4380 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_4423 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-13 |
| GCST010796_4424 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-11 |
| GCST010796_4425 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-10 |
| GCST010796_4451 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-09 |
| GCST010796_4452 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004520 | ICAM-1 measurement |
| EFO:0008111 | diet measurement |
| EFO:0004501 | HOMA-IR |
| EFO:0000409 | disease free survival |
| EFO:0009188 | Red cell distribution width |
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0009695 | household income |
| EFO:0004327 | electrocardiography |
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 — Orphan or poorly characterized SLC22 family members
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 4 |
| Valproic Acid | decreases methylation, increases expression | 3 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | affects methylation, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sulforaphane | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| nickel sulfate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pseudoisocyanine | decreases reaction, increases uptake | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4IZ | HCT116-SLC22A23-KO-c10 | Cancer cell line | Male |
| CVCL_D4J0 | HCT116-SLC22A23-KO-c7 | Cancer cell line | Male |
| CVCL_TL99 | HAP1 SLC22A23 (-) 1 | Cancer cell line | Male |
| CVCL_XS97 | HAP1 SLC22A23 (-) 2 | 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): nicotine dependence, primary biliary cholangitis, rectal cancer, Stevens-Johnson syndrome, toxic epidermal necrolysis