SLC22A13

Summary

SLC22A13 (solute carrier family 22 member 13, HGNC:8494) is a protein-coding gene on chromosome 3p22.2, encoding Solute carrier family 22 member 13 (Q9Y226). Anion antiporter that mediates the transport of urate, orotate and nicotinate in exchange for organic or inorganic anions.

This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine.

Source: NCBI Gene 9390 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_004256

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8494
Approved symbol	SLC22A13
Name	solute carrier family 22 member 13
Location	3p22.2
Locus type	gene with protein product
Status	Approved
Aliases	OCTL1, OCTL3, OAT10
Ensembl gene	ENSG00000172940
Ensembl biotype	protein_coding
OMIM	604047
Entrez	9390

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000311856, ENST00000415844, ENST00000649621

RefSeq mRNA: 1 — MANE Select: NM_004256 NM_004256

CCDS: CCDS2676

Canonical transcript exons

ENST00000311856 — 10 exons

Exon	Start	End
ENSE00001193851	38274272	38274375
ENSE00001291628	38274604	38274758
ENSE00001680693	38276287	38276395
ENSE00001692604	38276912	38277127
ENSE00001887223	38265812	38266238
ENSE00003548071	38274989	38275157
ENSE00003571838	38275370	38275490
ENSE00003615802	38275882	38276096
ENSE00003628885	38275578	38275672
ENSE00003839124	38277372	38278757

Expression profiles

Bgee: expression breadth broad, 52 present calls, max score 64.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0188 / max 12.1045, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36099	0.0166	3
36100	0.0022	2

Top tissues by expression

213 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adult mammalian kidney	UBERON:0000082	64.92	gold quality
tongue squamous epithelium	UBERON:0006919	60.47	gold quality
kidney	UBERON:0002113	59.31	gold quality
cortex of kidney	UBERON:0001225	55.81	gold quality
stromal cell of endometrium	CL:0002255	55.35	gold quality
myocardium	UBERON:0002349	54.85	gold quality
cerebellar vermis	UBERON:0004720	54.68	gold quality
cartilage tissue	UBERON:0002418	52.85	gold quality
lower esophagus mucosa	UBERON:0035834	52.27	gold quality
quadriceps femoris	UBERON:0001377	51.86	gold quality
vastus lateralis	UBERON:0001379	51.46	gold quality
mucosa of sigmoid colon	UBERON:0004993	51.30	gold quality
Brodmann (1909) area 46	UBERON:0006483	51.28	gold quality
biceps brachii	UBERON:0001507	51.12	gold quality
adult organism	UBERON:0007023	51.01	silver quality
skeletal muscle tissue	UBERON:0001134	50.86	gold quality
bone marrow cell	CL:0002092	50.56	gold quality
metanephros	UBERON:0000081	50.56	gold quality
apex of heart	UBERON:0002098	50.44	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
colonic epithelium	UBERON:0000397	50.28	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
hindlimb stylopod muscle	UBERON:0004252	50.17	silver quality
metanephros cortex	UBERON:0010533	49.95	gold quality
thymus	UBERON:0002370	49.81	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting SLC22A13, 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-188-3P	100.00	68.76	1240
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-6787-5P	97.54	63.85	457
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-4445-5P	97.21	66.16	832
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-6508-3P	96.73	65.48	576
HSA-MIR-6762-5P	96.55	64.62	972

Literature-anchored findings (GeneRIF, showing 9)

• SLC22A13 is a new urate and high affinity nicotinate transporter (PMID:18411268)
• ORCTL3 protein causes cell death in v-src-transformed cells and in various human tumor cell lines but not in normal cells or untransformed cell lines. (PMID:19282870)
• Expression of SLC22A13 stimulates efflux of aspartate and glutamate at the basolateral membrane in renal collecting duct. (PMID:24147638)
• An adenovirus expressing ORCTL3 leads to growth inhibition of renal tumours in vivo and to substantial destruction of patients’ kidney tumour cells ex vivo (PMID:24769897)
• Since ORCTL3 targets fatty acid metabolism in transformed cells and induces an ER stress specifically in these cells, it reveals a novel therapeutic interference option for tumor cells. (PMID:25001539)
• A dysfunctional missense variant of OAT10 decreases both gout risk and serum uric acid levels, suggesting OAT10 to be physiologically involved in urate reabsorption in the human kidney. (PMID:31780526)
• Functional characterization of human organic anion transporter 10 (OAT10/SLC22A13) as an orotate transporter. (PMID:35144162)
• Functional coupling of organic anion transporter OAT10 (SLC22A13) and monocarboxylate transporter MCT1 (SLC16A1) influencing the transport function of OAT10. (PMID:35926947)
• Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout. (PMID:38222853)

Cross-species orthologs

46 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc22a13b	ENSDARG00000059166
mus_musculus	Slc22a13	ENSMUSG00000074028
mus_musculus	Slc22a13b	ENSMUSG00000092212
rattus_norvegicus	Slc22a13l1	ENSRNOG00000042660
rattus_norvegicus	LOC120094289	ENSRNOG00000056476
rattus_norvegicus		ENSRNOG00000086397
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), SLC22A23 (ENSG00000137266), SLC22A14 (ENSG00000144671), SLC22A3 (ENSG00000146477), SLC22A8 (ENSG00000149452), SLC22A9 (ENSG00000149742), SVOPL (ENSG00000157703), SLC22A15 (ENSG00000163393), SVOP (ENSG00000166111), SLC22A11 (ENSG00000168065), 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 13 — Q9Y226 (reviewed: Q9Y226)

Alternative names: Organic anion transporter 10, Organic cation transporter-like 3

All UniProt accessions (3): Q9Y226, A0A3B3ITC0, H0Y4Y1

UniProt curated annotations — full annotation on UniProt →

Function. Anion antiporter that mediates the transport of urate, orotate and nicotinate in exchange for organic or inorganic anions. Translocates urate and orotate across the apical membrane of proximal tubule epithelial cells and involved in urate renal reabsorption. Possibly involved in orotate renal reabsorption and nicotinate intestinal reabsorption. Mediates urate uptake by an exchange with organic anions such as (S)-lactate, succinate, glutathione and nicotinate. Urate and orotate transports are Cl(-)-dependent. Shows similar transport characteristics as the urate/orotate renal antiporter SLC22A12/URAT1 and may act as a compensator of SLC22A12/URAT1 in certain conditions.

Subcellular location. Apical cell membrane.

Tissue specificity. Ubiquitous. Highly expressed in kidneys and to a weaker extent in brain, heart, and intestine. In kidneys, expressed in proximal convoluted tubule. In kidneys, also expressed in cortical collecting duct, whereas glomerulus and thick ascending limb exhibit no expression.

Post-translational modifications. Glycosylated.

Similarity. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y226-1	1	yes
Q9Y226-2	2

RefSeq proteins (1): NP_004247* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005828	MFS_sugar_transport-like	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily

Pfam: PF00083

Catalyzed reactions (Rhea), 5 shown:

• urate(out) + (S)-lactate(in) = urate(in) + (S)-lactate(out) (RHEA:72003)
• urate(out) + succinate(in) = urate(in) + succinate(out) (RHEA:72007)
• urate(out) + glutathione(in) = urate(in) + glutathione(out) (RHEA:72011)
• nicotinate(in) + urate(out) = nicotinate(out) + urate(in) (RHEA:72023)
• orotate(out) + a carboxylate(in) = orotate(in) + a carboxylate(out) (RHEA:73487)

UniProt features (38 total): topological domain 13, transmembrane region 12, glycosylation site 4, sequence variant 3, compositionally biased region 2, chain 1, region of interest 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y226-F1	84.87	0.51

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 (4): 57, 61, 92, 104

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-196807	Nicotinate metabolism
R-HSA-1430728	Metabolism
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors
R-HSA-196854	Metabolism of vitamins and cofactors
R-HSA-197264

MSigDB gene sets: 132 (showing top): GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_SALVAGE, GOBP_NADPLUS_METABOLIC_PROCESS, FOXD3_01, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS

GO Biological Process (6): positive regulation of T cell mediated cytotoxicity directed against tumor cell target (GO:0002854), urate transport (GO:0015747), NAD+ biosynthetic process via the salvage pathway (GO:0034355), negative regulation of fatty acid metabolic process (GO:0045922), nicotinate transport (GO:2001142), transmembrane transport (GO:0055085)

GO Molecular Function (3): urate transmembrane transporter activity (GO:0015143), nicotinate transmembrane transporter activity (GO:0090416), transmembrane transporter activity (GO:0022857)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of water-soluble vitamins and cofactors	1
Metabolism of vitamins and cofactors	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nitrogen compound transport	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
positive regulation of T cell mediated cytotoxicity	1
T cell mediated cytotoxicity directed against tumor cell target	1
positive regulation of T cell mediated immune response to tumor cell	1
regulation of T cell mediated cytotoxicity directed against tumor cell target	1
NAD+ biosynthetic process	1
pyridine nucleotide salvage	1
purine nucleotide salvage	1
fatty acid metabolic process	1
regulation of fatty acid metabolic process	1
negative regulation of lipid metabolic process	1
negative regulation of small molecule metabolic process	1
monocarboxylic acid transport	1
transport	1
cellular process	1
urate transport	1
salt transmembrane transporter activity	1
monocarboxylic acid transmembrane transporter activity	1
nicotinate transport	1
transporter activity	1
transmembrane transport	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

690 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC22A13	XYLB	O75191	912
SLC22A13	OXSR1	O95747	828
SLC22A13	SLC2A9	Q9NRM0	773
SLC22A13	SLC17A1	Q14916	725
SLC22A13	SLC17A3	O00476	725
SLC22A13	SLC47A1	Q96FL8	623
SLC22A13	SLC5A8	Q8N695	622
SLC22A13	SLC5A12	Q1EHB4	592
SLC22A13	PHF12	Q96QT6	548
SLC22A13	ABCG2	Q9UNQ0	539
SLC22A13	ABCC4	O15439	522
SLC22A13	SLC47A2	Q86VL8	501
SLC22A13	SLC29A4	Q7RTT9	487
SLC22A13	SLC67A1	Q96BI1	487
SLC22A13	PDZK1IP1	Q13113	463

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SLC22A13	SEMG1	psi-mi:“MI:0914”(association)	0.350
SLC22A13	XRCC3	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): SEMG1 (Affinity Capture-MS), SEMG2 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), SEMG2 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), ACAA2 (Affinity Capture-MS), ATP2B1 (Affinity Capture-MS), CMSS1 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CTSB (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), C16orf58 (Affinity Capture-MS), SUCLG2 (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q2IDB4, A0A8B7HA97, A4ZYQ5, A6NK97, G1SZD9, O35956, O57379, O88909, P22732, P23945, P43427, Q0IHM1, Q2KIV1, Q3ZAV1, Q4U2R8, Q4W8A2, Q4W8A3, Q5R9C4, Q5RC45, Q5RCH6, Q5RET7, Q63ZE4, Q66J52, Q6DFR1, Q6NUB3, Q6NYN7, Q6PXP3, Q6T423, Q70BM6, Q76M72, Q76M99, Q80UJ1, Q863Y9, Q864Z3, Q8CFZ5, Q8HY24, Q8IVM8, Q8MK48, Q8N4F4, Q8R0S9

Diamond homologs: A0A3Q2IDB4, A0A8B7HA97, A6NK97, A6QLW8, B2GV36, G1SZD9, O34691, O35956, O57379, O75751, O88446, O88909, Q1RPP5, Q28ES4, Q2KIV1, Q3YAW7, Q3ZAV1, Q4U2R8, Q4W8A2, Q4W8A3, Q5R540, Q5R9C4, Q5RC45, Q5RCH6, Q5RLM2, Q63ZE4, Q66J52, Q66J54, Q6A4L0, Q6NYN7, Q6T423, Q70BM6, Q76M72, Q76M99, Q80UJ1, Q864Z3, Q8CFZ5, Q8HY24, Q8IVM8, Q8MK48

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

79 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1061 predictions. Top by Δscore:

Variant	Effect	Δscore
3:38274268:TCA:T	acceptor_loss	1.0000
3:38274269:CAGTT:C	acceptor_loss	1.0000
3:38274270:A:AG	acceptor_gain	1.0000
3:38274270:AGTTC:A	acceptor_loss	1.0000
3:38274271:G:GA	acceptor_gain	1.0000
3:38274271:GT:G	acceptor_gain	1.0000
3:38274271:GTT:G	acceptor_gain	1.0000
3:38274271:GTTC:G	acceptor_gain	1.0000
3:38274271:GTTCA:G	acceptor_gain	1.0000
3:38274373:CCGGT:C	donor_loss	1.0000
3:38274374:CGGTA:C	donor_loss	1.0000
3:38274376:G:GA	donor_loss	1.0000
3:38274376:G:GG	donor_gain	1.0000
3:38274377:T:G	donor_loss	1.0000
3:38274601:CA:C	acceptor_loss	1.0000
3:38274602:A:AG	acceptor_gain	1.0000
3:38274602:AG:A	acceptor_gain	1.0000
3:38274602:AGGAT:A	acceptor_loss	1.0000
3:38274603:G:GG	acceptor_gain	1.0000
3:38274603:GG:G	acceptor_gain	1.0000
3:38274603:GGATT:G	acceptor_gain	1.0000
3:38274754:CCTAC:C	donor_gain	1.0000
3:38274755:CTAC:C	donor_gain	1.0000
3:38274756:TAC:T	donor_gain	1.0000
3:38274757:AC:A	donor_gain	1.0000
3:38274759:G:GG	donor_gain	1.0000
3:38274987:A:AG	acceptor_gain	1.0000
3:38274988:G:GA	acceptor_gain	1.0000
3:38275486:ACCAG:A	donor_loss	1.0000
3:38275487:CCAGG:C	donor_loss	1.0000

AlphaMissense

3574 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:38266008:T:A	C50S	0.990
3:38266009:G:C	C50S	0.990
3:38275101:G:C	W250C	0.989
3:38275101:G:T	W250C	0.989
3:38274272:T:C	F127L	0.987
3:38274274:C:A	F127L	0.987
3:38274274:C:G	F127L	0.987
3:38266185:T:A	C109S	0.986
3:38266186:G:C	C109S	0.986
3:38266199:G:C	W113C	0.984
3:38266199:G:T	W113C	0.984
3:38274284:T:A	C131S	0.983
3:38274285:G:C	C131S	0.983
3:38266186:G:A	C109Y	0.980
3:38275099:T:A	W250R	0.980
3:38275099:T:C	W250R	0.980
3:38266022:G:C	W54C	0.979
3:38266022:G:T	W54C	0.979
3:38266010:T:G	C50W	0.978
3:38266009:G:A	C50Y	0.977
3:38265981:T:C	F41L	0.976
3:38265983:C:A	F41L	0.976
3:38265983:C:G	F41L	0.976
3:38274285:G:A	C131Y	0.970
3:38266008:T:C	C50R	0.968
3:38266185:T:C	C109R	0.967
3:38266009:G:T	C50F	0.966
3:38266116:T:C	F86L	0.966
3:38266118:C:A	F86L	0.966
3:38266118:C:G	F86L	0.966

dbSNP variants (sampled 300 via entrez): RS1000074773 (3:38276836 G>A), RS1000285368 (3:38263878 T>C), RS1000295155 (3:38274444 C>G), RS1000325737 (3:38274179 GCTC>G), RS1000338587 (3:38264319 G>A), RS1000572635 (3:38268857 GTCC>G), RS1000901657 (3:38269082 CAAAA>C), RS1001199610 (3:38277263 T>A,C), RS1001314173 (3:38277623 A>G,T), RS1001429174 (3:38271343 T>C), RS1001556777 (3:38264816 G>A), RS1002172469 (3:38270730 G>A), RS1002207234 (3:38275909 C>T), RS1002297225 (3:38276618 C>T), RS1002329620 (3:38276460 G>A,T)

Disease associations

OMIM: gene MIM:604047 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003875_38	Gut microbiota (bacterial taxa)	6.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0007883	taxonomic microbiome 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 — Orphan or poorly characterized SLC22 family members

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation	2
aristolochic acid I	increases expression	1
CGP 52608	increases reaction, affects binding	1
theaflavin-3,3’-digallate	affects expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Methotrexate	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	increases methylation	1
Sodium Selenite	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.