SLC22A9

Summary

SLC22A9 (solute carrier family 22 member 9, HGNC:16261) is a protein-coding gene on chromosome 11q12.3, encoding Organic anion transporter 7 (Q8IVM8). Sodium-independent organic anion transporter, exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones such as estrone 3-sulfate (E1S) and dehydroepiandrosterone sulfate (DHEAS).

Enables short-chain fatty acid transmembrane transporter activity and sodium-independent organic anion transmembrane transporter activity. Involved in hormone transport; short-chain fatty acid transmembrane transport; and sodium-independent organic anion transport. Located in basolateral plasma membrane. Implicated in Lynch syndrome and mismatch repair cancer syndrome.

Source: NCBI Gene 114571 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 73 total
• Druggable target: yes
• MANE Select transcript: NM_080866

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16261
Approved symbol	SLC22A9
Name	solute carrier family 22 member 9
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	OAT4, FLJ23666, UST3, OAT7
Ensembl gene	ENSG00000149742
Ensembl biotype	protein_coding
OMIM	607579
Entrez	114571

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 13 protein_coding, 1 nonsense_mediated_decay

ENST00000279178, ENST00000536333, ENST00000863020, ENST00000863021, ENST00000863022, ENST00000863023, ENST00000863024, ENST00000863025, ENST00000863026, ENST00000863027, ENST00000863028, ENST00000863029, ENST00000863030, ENST00000863031

RefSeq mRNA: 1 — MANE Select: NM_080866 NM_080866

CCDS: CCDS8043

Canonical transcript exons

ENST00000279178 — 10 exons

Exon	Start	End
ENSE00001119295	63373644	63373798
ENSE00001657825	63409802	63410294
ENSE00002215090	63369785	63370458
ENSE00002484922	63371135	63371238
ENSE00003485844	63373894	63374062
ENSE00003549780	63406497	63406711
ENSE00003587152	63408112	63408220
ENSE00003590418	63382159	63382277
ENSE00003594450	63375645	63375768
ENSE00003683608	63408676	63408879

Expression profiles

Bgee: expression breadth broad, 43 present calls, max score 83.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1117 / max 38.8015, expressed in 13 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114790	0.1117	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	83.61	gold quality
liver	UBERON:0002107	81.46	gold quality
Brodmann (1909) area 9	UBERON:0013540	57.76	gold quality
right frontal lobe	UBERON:0002810	56.85	gold quality
sperm	CL:0000019	56.80	gold quality
upper leg skin	UBERON:0004262	56.27	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	55.49	gold quality
skin of hip	UBERON:0001554	54.86	silver quality
sural nerve	UBERON:0015488	54.71	gold quality
anterior cingulate cortex	UBERON:0009835	52.53	gold quality
gall bladder	UBERON:0002110	51.66	gold quality
frontal cortex	UBERON:0001870	51.22	gold quality
neocortex	UBERON:0001950	50.96	gold quality
prefrontal cortex	UBERON:0000451	50.71	gold quality
primary visual cortex	UBERON:0002436	49.44	gold quality
cerebral cortex	UBERON:0000956	49.08	gold quality
occipital lobe	UBERON:0002021	47.97	gold quality
amygdala	UBERON:0001876	47.87	gold quality
middle temporal gyrus	UBERON:0002771	45.45	gold quality
buccal mucosa cell	CL:0002336	45.38	gold quality
temporal lobe	UBERON:0001871	45.04	gold quality
islet of Langerhans	UBERON:0000006	43.99	gold quality
superior frontal gyrus	UBERON:0002661	43.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
renal medulla	UBERON:0000362	42.64	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
forebrain	UBERON:0001890	42.39	gold quality
skeletal muscle tissue	UBERON:0001134	42.11	gold quality
adrenal tissue	UBERON:0018303	42.06	gold quality
mammalian vulva	UBERON:0000997	41.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF1A

miRNA regulators (miRDB)

20 targeting SLC22A9, 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-6778-3P	99.96	67.29	2693
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-6838-3P	98.40	65.88	559
HSA-MIR-4733-3P	98.35	65.20	994
HSA-MIR-8078	98.32	65.73	361
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-449C-3P	97.75	67.86	462
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-663B	97.40	62.91	664
HSA-MIR-4794	96.47	65.53	1063

Literature-anchored findings (GeneRIF, showing 12)

• uptake of steroid sulfates by isolated trophoblasts is mediated by OATP-B and OAT-4 suggesting a physiological role of both carrier proteins in placental uptake of fetal-derived steroid sulfates. (PMID:12409283)
• Both progesterone and activation of PKC inhibited hOAT4 activity through redistribution of the transporter from cell surface to the intracellular compartments. (PMID:17341544)
• OAT7 is the first liver-specific transporter among members of the organic anion transporters of SLC22 family. (PMID:17393504)
• The data provide a model for the concerted action of OAT1 mediating apical secretion of glutarate derivatives from proximal tubule cells (PMID:18365245)
• The regulatory single nucleotide polymorphism (SNP) of OAT4 found in the promoter region of nephrectomized patients is unlikely to influence mRNA expression or promoter activity of OAT4. (PMID:18414781)
• Review summarizes current knowledge on the functional and phenotypic consequences of genetic variation in intestinally, hepatically and renally expressed members of solute carrier family (SLC22) member 9. (PMID:18466105)
• Functional differences in steroid uptake of SLC22A9 and SLC02B1 in human placenta are reported. (PMID:18501590)
• Human organic anion transporter hOAT4 is a transporter of perfluorooctanoic acid. (PMID:19371258)
• Pravastatin is the first identified OAT7 drug substrate. Substantial inter-individual variability in hepatic OAT7 expression, majorly driven by HNF4alpha, may contribute to pravastatin drug disposition and might affect response. (PMID:26239079)
• two human organic anion transporters OAT2 and OAT7 activities were assessed. (PMID:28945155)
• Large interindividual variability was noted in the hepatic expression of OAT2 (16-fold in human liver tissue and 23-fold in hepatocytes). OAT7, on the other hand, showed less interindividual variability (4-fold) in the livers, but high variability for the hepatocyte lots (27-fold). A significant positive correlation in OAT2 and OAT7 expression was observed, but expression levels were neither associated with age nor sex. (PMID:29906129)
• The Membrane Transporter OAT7 (SLC22A9) Is Not a Susceptibility Factor for Osteoporosis in Europeans. (PMID:33013684)

Cross-species orthologs

60 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc22a4	ENSDARG00000005335
danio_rerio	oatx	ENSDARG00000019713
danio_rerio	si:dkey-166k12.1	ENSDARG00000054690
danio_rerio	slc22a15	ENSDARG00000055445
danio_rerio	si:dkey-119m7.4	ENSDARG00000071049
danio_rerio	si:dkey-119m7.8	ENSDARG00000096654
mus_musculus	Slc22a19	ENSMUSG00000024757
mus_musculus	Slc22a30	ENSMUSG00000052562
mus_musculus	Slc22a26	ENSMUSG00000053303
mus_musculus	Slc22a28	ENSMUSG00000063590
mus_musculus	Slc22a27	ENSMUSG00000067656
mus_musculus	Slc22a29	ENSMUSG00000075044
rattus_norvegicus	Slc22a25	ENSRNOG00000017964
rattus_norvegicus	UST4r	ENSRNOG00000049826
rattus_norvegicus	AABR07006120.1	ENSRNOG00000056396
rattus_norvegicus	Ust5r	ENSRNOG00000061890
drosophila_melanogaster	Orct	FBGN0019952
drosophila_melanogaster	CG15221	FBGN0030331
drosophila_melanogaster	Balat	FBGN0033778
drosophila_melanogaster	CG4630	FBGN0033809
drosophila_melanogaster	CG5592	FBGN0035645
drosophila_melanogaster	CG10486	FBGN0035647
drosophila_melanogaster	SLC22A	FBGN0037140
drosophila_melanogaster	CG7458	FBGN0037144
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		WBGENE00015088
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), 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

Organic anion transporter 7 — Q8IVM8 (reviewed: Q8IVM8)

Alternative names: Organic anion/short-chain fatty acid exchanger, Solute carrier family 22 member 9

All UniProt accessions (1): Q8IVM8

UniProt curated annotations — full annotation on UniProt →

Function. Sodium-independent organic anion transporter, exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones such as estrone 3-sulfate (E1S) and dehydroepiandrosterone sulfate (DHEAS). Can transport the statin pravastatin and may contribute to its disposition into the hepatocytes when the function of OATPs is compromised. It is specifically activated by 3 to 5 carbons-containing short-chain fatty acids/SCFAs, including propionate (propanoate), butyrate (butanoate) and valerate (pentanoate). May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs, in particular butanoate, at the sinusoidal membrane of hepatocytes.

Subcellular location. Basolateral cell membrane.

Tissue specificity. Specifically expressed in liver (also at protein level).

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

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?
Q8IVM8-1	1	yes
Q8IVM8-2	2

RefSeq proteins (1): NP_543142* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily

Pfam: PF07690

Catalyzed reactions (Rhea), 6 shown:

• butanoate(out) + estrone 3-sulfate(in) = butanoate(in) + estrone 3-sulfate(out) (RHEA:72051)
• propanoate(in) + estrone 3-sulfate(out) = propanoate(out) + estrone 3-sulfate(in) (RHEA:72555)
• pentanoate(in) + estrone 3-sulfate(out) = pentanoate(out) + estrone 3-sulfate(in) (RHEA:72559)
• dehydroepiandrosterone 3-sulfate(in) + butanoate(out) = dehydroepiandrosterone 3-sulfate(out) + butanoate(in) (RHEA:72563)
• propanoate(out) + dehydroepiandrosterone 3-sulfate(in) = propanoate(in) + dehydroepiandrosterone 3-sulfate(out) (RHEA:72567)
• pentanoate(out) + dehydroepiandrosterone 3-sulfate(in) = pentanoate(in) + dehydroepiandrosterone 3-sulfate(out) (RHEA:72571)

UniProt features (37 total): topological domain 13, transmembrane region 12, glycosylation site 3, sequence variant 3, splice variant 2, sequence conflict 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVM8-F1	85.56	0.53

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 (3): 39, 56, 102

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 63 (showing top): GOBP_SODIUM_INDEPENDENT_ORGANIC_ANION_TRANSPORT, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, GOBP_LIPID_LOCALIZATION, GOBP_FATTY_ACID_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_PLASMA_MEMBRANE_REGION, GOCC_BASAL_PART_OF_CELL, GOMF_LIPID_TRANSPORTER_ACTIVITY, GOMF_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOCARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_UP

GO Biological Process (6): hormone transport (GO:0009914), obsolete organic anion transport (GO:0015711), short-chain fatty acid transmembrane transport (GO:0015913), sodium-independent organic anion transport (GO:0043252), lipid transport (GO:0006869), transmembrane transport (GO:0055085)

GO Molecular Function (4): obsolete organic anion transmembrane transporter activity (GO:0008514), obsolete sodium-independent organic anion transmembrane transporter activity (GO:0015347), short-chain fatty acid transmembrane transporter activity (GO:0015636), transmembrane transporter activity (GO:0022857)

GO Cellular Component (3): basolateral plasma membrane (GO:0016323), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
short-chain fatty acid transport	2
transmembrane transport	2
regulation of hormone levels	1
fatty acid transmembrane transport	1
lipid localization	1
cellular process	1
fatty acid transmembrane transporter activity	1
transporter activity	1
basal plasma membrane	1
plasma membrane region	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

842 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC22A9	SLC47A2	Q86VL8	762
SLC22A9	SLC47A1	Q96FL8	760
SLC22A9	SLC2A9	Q9NRM0	723
SLC22A9	ABCC4	O15439	703
SLC22A9	SLCO2B1	O94956	702
SLC22A9	SLCO1A2	P46721	691
SLC22A9	SLCO4C1	Q6ZQN7	682
SLC22A9	SLCO1B3	Q9NPD5	658
SLC22A9	SLCO1B1	Q9Y6L6	653
SLC22A9	SLC17A1	Q14916	645
SLC22A9	ABCG2	Q9UNQ0	621
SLC22A9	SLC17A3	O00476	611
SLC22A9	SLCO4A1	Q96BD0	597
SLC22A9	SLCO3A1	Q9UIG8	567
SLC22A9	ABCC2	Q92887	561

IntAct

134 interactions, top by confidence:

A	B	Type	Score
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
SLC22A9	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI2	SLC22A9	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
PDZD7	SLC22A9	psi-mi:“MI:0407”(direct interaction)	0.440
PTPN3	SLC22A9	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	SLC22A9	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	GRIP2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	SNTG2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC22A9	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (366): ELOVL2 (Affinity Capture-MS), TMEM242 (Affinity Capture-MS), CAV1 (Affinity Capture-MS), TMEM115 (Affinity Capture-MS), SLC25A51 (Affinity Capture-MS), ZDHHC21 (Affinity Capture-MS), TMEM67 (Affinity Capture-MS), SLC22A5 (Affinity Capture-MS), MFSD5 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), TMEM56 (Affinity Capture-MS), MFSD12 (Affinity Capture-MS), SLC35B2 (Affinity Capture-MS), DPY19L1 (Affinity Capture-MS), PIGW (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

1 interactions.

A	Effect	B	Mechanism
HNF1A	“up-regulates quantity by expression”	SLC22A9	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	51.9×	2e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	49.4×	2e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	49.4×	2e-06
Long-term potentiation	5	43.3×	3e-06
Assembly and cell surface presentation of NMDA receptors	9	41.5×	6e-11
Neurexins and neuroligins	10	35.8×	3e-11
Protein-protein interactions at synapses	6	29.0×	2e-06
RHOB GTPase cycle	5	14.0×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	78.0×	3e-16
protein localization to synapse	6	56.0×	1e-07
receptor clustering	7	53.3×	1e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	42.3×	4e-08
protein-containing complex assembly	9	12.5×	3e-06
cell-cell adhesion	10	12.4×	6e-07
regulation of small GTPase mediated signal transduction	5	8.8×	5e-03
chemical synaptic transmission	7	6.6×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1325 predictions. Top by Δscore:

Variant	Effect	Δscore
11:63370456:GAG:G	donor_gain	1.0000
11:63370457:AGGT:A	donor_loss	1.0000
11:63370459:G:GG	donor_gain	1.0000
11:63370459:GTAA:G	donor_loss	1.0000
11:63370460:T:A	donor_loss	1.0000
11:63373794:GTTAA:G	donor_gain	1.0000
11:63373795:T:G	donor_gain	1.0000
11:63373799:G:GG	donor_gain	1.0000
11:63373892:A:AG	acceptor_gain	1.0000
11:63373893:G:GG	acceptor_gain	1.0000
11:63373893:GTA:G	acceptor_gain	1.0000
11:63408880:G:GG	donor_gain	1.0000
11:63371133:A:AG	acceptor_gain	0.9900
11:63371133:AGT:A	acceptor_gain	0.9900
11:63371133:AGTG:A	acceptor_gain	0.9900
11:63371134:G:GG	acceptor_gain	0.9900
11:63371134:GT:G	acceptor_gain	0.9900
11:63371134:GTG:G	acceptor_gain	0.9900
11:63371134:GTGG:G	acceptor_gain	0.9900
11:63372023:C:G	donor_gain	0.9900
11:63373090:G:GG	donor_gain	0.9900
11:63373795:T:TG	donor_gain	0.9900
11:63373893:GT:G	acceptor_gain	0.9900
11:63374156:A:AG	acceptor_gain	0.9900
11:63375638:T:TA	acceptor_gain	0.9900
11:63408198:G:GT	donor_gain	0.9900
11:63408661:T:A	acceptor_gain	0.9900
11:63408672:AAAG:A	acceptor_gain	0.9900
11:63408773:T:TA	acceptor_gain	0.9900
11:63408875:AATGA:A	donor_gain	0.9900

AlphaMissense

3646 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:63370063:T:C	F3L	0.967
11:63370065:T:A	F3L	0.967
11:63370065:T:G	F3L	0.967
11:63408676:G:C	R466S	0.963
11:63408676:G:T	R466S	0.963
11:63370201:T:A	C49S	0.956
11:63370202:G:C	C49S	0.956
11:63370327:T:C	F91L	0.955
11:63370329:T:A	F91L	0.955
11:63370329:T:G	F91L	0.955
11:63370174:T:C	F40L	0.948
11:63370176:C:A	F40L	0.948
11:63370176:C:G	F40L	0.948
11:63406648:A:C	S409R	0.947
11:63406650:C:A	S409R	0.947
11:63406650:C:G	S409R	0.947
11:63371137:G:C	W135C	0.945
11:63371137:G:T	W135C	0.945
11:63406583:G:A	G387D	0.945
11:63408717:C:A	A480E	0.945
11:63373653:A:C	R172S	0.943
11:63373653:A:T	R172S	0.943
11:63375710:T:C	L299P	0.943
11:63408147:G:C	G442R	0.943
11:63370064:T:G	F3C	0.941
11:63373756:G:T	G207W	0.941
11:63373902:T:A	W224R	0.940
11:63373902:T:C	W224R	0.940
11:63406582:G:C	G387R	0.939
11:63408148:G:A	G442D	0.936

dbSNP variants (sampled 300 via entrez): RS1000017730 (11:63386402 A>G), RS1000018220 (11:63403064 A>G), RS1000043784 (11:63393510 A>G), RS1000074203 (11:63399155 A>C), RS1000090401 (11:63409040 C>A), RS1000140416 (11:63381295 C>T), RS1000157045 (11:63396928 T>A), RS1000452814 (11:63394413 G>A,T), RS1000615665 (11:63385116 T>TTTG,TTTGTTGTTGTTGTTG), RS1000722113 (11:63384035 G>A), RS1000789204 (11:63391277 A>G), RS1001005930 (11:63404845 G>C), RS1001095715 (11:63407782 C>T), RS1001145193 (11:63384309 C>A,G), RS1001147594 (11:63368468 A>G)

Disease associations

OMIM: gene MIM:607579 | 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
GCST001519_1	Economic and political preferences	3.000000e-06
GCST002925_7	Sex hormone levels	8.000000e-12
GCST007428_1	Thyroxine levels	4.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004827	economic and social preference
EFO:0004730	hormone measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2073721 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Organic anion transporters (OATs)

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	3
Aflatoxin B1	decreases expression, decreases methylation, affects expression	3
estrone sulfate	decreases reaction, increases uptake, increases import	2
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Probenecid	increases import, increases uptake, decreases activity, decreases reaction	2
OTX015	decreases expression	1
methyleugenol	decreases expression	1
senecionine	decreases expression	1
senkirkine	decreases expression	1
heliotrine	decreases expression	1
4-O-methyl-12-O-tetradecanoylphorbol 13-acetate	decreases activity	1
pranlukast	decreases reaction, increases uptake	1
losartan carboxylic acid	decreases reaction, increases uptake	1
candesartan cilexetil	decreases reaction, increases uptake	1
candesartan	decreases reaction, increases uptake	1
Valsartan	decreases reaction, increases uptake	1
Rosiglitazone	decreases expression	1
Acetaminophen	decreases activity	1
Anions	increases uptake, decreases reaction	1
Aspirin	decreases activity	1
Diclofenac	decreases activity	1
Estradiol	decreases expression	1
Ibuprofen	decreases activity, increases uptake	1
Indomethacin	decreases activity, increases uptake	1
Ketoprofen	decreases activity, increases uptake	1
Mefenamic Acid	decreases activity	1
Naproxen	decreases activity	1
Phenacetin	decreases activity	1
Phenobarbital	affects expression	1

ChEMBL screening assays

14 unique, capped per target: 14 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2075905	Functional	TP_TRANSPORTER: inhibition of carnitine uptake by Carnitine-related compound-9A at 20uM in Xenopus laevis oocytes	Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition. — J Biol Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4SE	HuH7-SLC22A9-KO-c4	Cancer cell line	Male
CVCL_D4SF	HuH7-SLC22A9-KO-c5	Cancer cell line	Male

Clinical trials (associated diseases)

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