SLCO4A1

Summary

SLCO4A1 (solute carrier organic anion transporter family member 4A1, HGNC:10953) is a protein-coding gene on chromosome 20q13.33, encoding Solute carrier organic anion transporter family member 4A1 (Q96BD0). Organic anion antiporter with apparent broad substrate specificity.

Enables organic anion transmembrane transporter activity and prostaglandin transmembrane transporter activity. Predicted to be involved in sodium-independent organic anion transport. Predicted to be located in plasma membrane. Predicted to be active in basolateral plasma membrane.

Source: NCBI Gene 28231 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 140 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_016354

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10953
Approved symbol	SLCO4A1
Name	solute carrier organic anion transporter family member 4A1
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Aliases	OATP-E, OATP4A1
Ensembl gene	ENSG00000101187
Ensembl biotype	protein_coding
OMIM	612436
Entrez	28231

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 13 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000217159, ENST00000370507, ENST00000451793, ENST00000466818, ENST00000466961, ENST00000470412, ENST00000495889, ENST00000497209, ENST00000497919, ENST00000851396, ENST00000851397, ENST00000851398, ENST00000851399, ENST00000851400, ENST00000851401, ENST00000851402, ENST00000921991, ENST00000943509, ENST00000943510

RefSeq mRNA: 1 — MANE Select: NM_016354 NM_016354

CCDS: CCDS13501

Canonical transcript exons

ENST00000217159 — 12 exons

Exon	Start	End
ENSE00001210743	62642503	62642553
ENSE00003502033	62668930	62669078
ENSE00003583345	62671750	62672293
ENSE00003680522	62668477	62668541
ENSE00003686652	62667745	62667910
ENSE00003694350	62668012	62668184
ENSE00003888748	62664934	62665088
ENSE00003890641	62660412	62660533
ENSE00003891805	62666380	62666575
ENSE00003893252	62656359	62657250
ENSE00003893912	62658677	62658767
ENSE00003894859	62661064	62661175

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 96.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4996 / max 309.2566, expressed in 1171 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185738	11.1486	1068
185737	2.8781	800
185743	0.2542	19
185739	0.0936	13
185746	0.0394	9
185744	0.0276	11
185741	0.0226	9
185740	0.0157	10
185742	0.0073	3
209204	0.0047	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
metanephros cortex	UBERON:0010533	96.92	gold quality
lower esophagus mucosa	UBERON:0035834	96.89	gold quality
right lung	UBERON:0002167	96.83	gold quality
upper lobe of left lung	UBERON:0008952	95.75	gold quality
skin of leg	UBERON:0001511	95.57	gold quality
upper lobe of lung	UBERON:0008948	95.29	gold quality
skin of abdomen	UBERON:0001416	94.39	gold quality
omental fat pad	UBERON:0010414	94.08	gold quality
peritoneum	UBERON:0002358	93.99	gold quality
left uterine tube	UBERON:0001303	93.68	gold quality
ectocervix	UBERON:0012249	93.21	gold quality
tibial nerve	UBERON:0001323	93.02	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.20	gold quality
mucosa of stomach	UBERON:0001199	92.19	gold quality
apex of heart	UBERON:0002098	92.14	gold quality
gastrocnemius	UBERON:0001388	91.53	gold quality
zone of skin	UBERON:0000014	91.44	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.12	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.10	gold quality
lower esophagus	UBERON:0013473	91.06	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.76	gold quality
heart left ventricle	UBERON:0002084	90.70	gold quality
body of stomach	UBERON:0001161	90.45	gold quality
cardiac ventricle	UBERON:0002082	90.23	gold quality
right frontal lobe	UBERON:0002810	90.07	gold quality
esophagus	UBERON:0001043	89.87	gold quality
esophagus mucosa	UBERON:0002469	89.37	gold quality
vagina	UBERON:0000996	88.54	gold quality
muscle of leg	UBERON:0001383	88.35	gold quality
lower lobe of lung	UBERON:0008949	88.03	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	175.64
E-ANND-3	yes	20.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

14 targeting SLCO4A1, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-215-3P	97.02	68.01	1209
HSA-MIR-137-5P	94.03	60.01	43
HSA-MIR-4707-3P	86.55	62.02	99

Literature-anchored findings (GeneRIF, showing 8)

• oligomerization of Oatp1a1 with PDZK1 is critical for its proper subcellular localization and function (PMID:15994332)
• Compared with the adult cerebral cortex, mRNAs encoding OATP1A2, OATP1C1, OATP3A1 variant 2, OATP4A1, LAT2 and CD98 were reduced in fetal cortex at different gestational ages, whilst mRNAs encoding MCT8, MCT10, OATP3A1 variant 1 and LAT1 were similar. (PMID:21486766)
• High OATP4A1 expression is associated with small cell lung cancer. (PMID:25301452)
• our results revealed altered OATP3A1 and OATP4A1 mRNA levels and novel mechanisms that might be involved in their regulation in colorectal cancer (PMID:26349991)
• SLCO4A1 may be a valuable marker of poor prognostic for colorectal cancer (CRC). Furthermore, SLCO4A1 plays an important role in CRC cell proliferation, migration, invasion, and carcinogenesis (PMID:28378090)
• Abundance of the Organic Anion-transporting Polypeptide OATP4A1 in Early-Stage Colorectal Cancer Patients: Association With Disease Relapse. (PMID:29734253)
• Placental Expression of Bile Acid Transporters in Intrahepatic Cholestasis of Pregnancy. (PMID:34638773)
• SLCO4A1, as a novel prognostic biomarker of non-small cell lung cancer, promotes cell proliferation and migration. (PMID:38275113)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	slco4a1	ENSDARG00000075948
mus_musculus	Slco4a1	ENSMUSG00000038963
rattus_norvegicus	Slco4a1	ENSRNOG00000053430
drosophila_melanogaster	Oatp26F	FBGN0051634
caenorhabditis_elegans		WBGENE00013499
caenorhabditis_elegans		WBGENE00018739
caenorhabditis_elegans		WBGENE00019346

Paralogs (10): SLCO1A2 (ENSG00000084453), SLCO1B3 (ENSG00000111700), SLCO1B1 (ENSG00000134538), SLCO2B1 (ENSG00000137491), SLCO5A1 (ENSG00000137571), SLCO1C1 (ENSG00000139155), SLCO4C1 (ENSG00000173930), SLCO2A1 (ENSG00000174640), SLCO3A1 (ENSG00000176463), SLCO6A1 (ENSG00000205359)

Protein

Protein identifiers

Solute carrier organic anion transporter family member 4A1 — Q96BD0 (reviewed: Q96BD0)

Alternative names: Colon organic anion transporter, Organic anion transporter polypeptide-related protein 1, Organic anion-transporting polypeptide E, Sodium-independent organic anion transporter E, Solute carrier family 21 member 12

All UniProt accessions (3): Q96BD0, A0A0A0MT51, E1P5H9

UniProt curated annotations — full annotation on UniProt →

Function. Organic anion antiporter with apparent broad substrate specificity. Recognizes various substrates including thyroid hormones 3,3’,5-triiodo-L-thyronine (T3), L-thyroxine (T4) and 3,3’,5’-triiodo-L-thyronine (rT3), conjugated steroids such as estrone 3-sulfate and estradiol 17-beta glucuronide, bile acids such as taurocholate and prostanoids such as prostaglandin E2, likely operating in a tissue-specific manner. May be involved in uptake of metabolites from the circulation into organs such as kidney, liver or placenta. Possibly drives the selective transport of thyroid hormones and estrogens coupled to an outward glutamate gradient across the microvillous membrane of the placenta. The transport mechanism, its electrogenicity and potential tissue-specific counterions remain to be elucidated.

Subcellular location. Cell membrane.

Tissue specificity. Widely expressed. Expressed in placental trophoblasts. Expressed in pancreas, kidney, skeletal muscle, liver, lung, brain, heart, colon, small intestine, ovary, testis, prostate, thymus and spleen. In testis, primarily localized to Leydig cells.

Domain organisation. A conserved histidine residue in the third TMD (His-191) may play an essential role in the pH sensitivity of SLCO4A1/OATP4A1-mediated substrate transport.

Similarity. Belongs to the organo anion transporter (TC 2.A.60) family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96BD0-1	1	yes
Q96BD0-2	2
Q96BD0-3	3
Q96BD0-4	4

RefSeq proteins (1): NP_057438* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002350	Kazal_dom	Domain
IPR004156	OATP	Family
IPR020846	MFS_dom	Domain
IPR036058	Kazal_dom_sf	Homologous_superfamily
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR046329	SO4A1-like	Family

Pfam: PF03137, PF07648

Catalyzed reactions (Rhea), 11 shown:

• prostaglandin E2(out) = prostaglandin E2(in) (RHEA:50984)
• taurocholate(out) = taurocholate(in) (RHEA:71703)
• 3,3’,5-triiodo-L-thyronine(out) = 3,3’,5-triiodo-L-thyronine(in) (RHEA:71811)
• 3,3’,5’-triiodo-L-thyronine(out) = 3,3’,5’-triiodo-L-thyronine(in) (RHEA:71815)
• L-thyroxine(out) = L-thyroxine(in) (RHEA:71819)
• estrone 3-sulfate(out) = estrone 3-sulfate(in) (RHEA:71835)
• estrone 3-sulfate(out) + L-glutamate(in) = estrone 3-sulfate(in) + L-glutamate(out) (RHEA:72239)
• 3,3’,5-triiodo-L-thyronine(out) + L-glutamate(in) = 3,3’,5-triiodo-L-thyronine(in) + L-glutamate(out) (RHEA:72299)
• L-thyroxine(out) + L-glutamate(in) = L-thyroxine(in) + L-glutamate(out) (RHEA:72303)
• taurocholate(out) + L-glutamate(in) = taurocholate(in) + L-glutamate(out) (RHEA:72307)
• 17beta-estradiol 17-O-(beta-D-glucuronate)(out) = 17beta-estradiol 17-O-(beta-D-glucuronate)(in) (RHEA:72691)

UniProt features (48 total): topological domain 13, transmembrane region 12, modified residue 6, splice variant 5, disulfide bond 3, region of interest 2, glycosylation site 2, sequence variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96BD0-F1	78.15	0.43

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 34, 37, 40, 43, 46, 50

Disulfide bonds (3): 504–534, 510–530, 519–553

Glycosylation sites (2): 499, 557

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-879518	Organic anion transport by SLCO transporters
R-HSA-382551	Transport of small molecules
R-HSA-425397	Transport of vitamins, nucleosides, and related molecules
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 218 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_SODIUM_INDEPENDENT_ORGANIC_ANION_TRANSPORT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, NAGASHIMA_NRG1_SIGNALING_UP, GOBP_ORGANIC_ACID_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, GOBP_ORGANIC_ANION_TRANSPORT, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, SENESE_HDAC1_TARGETS_UP, DOUGLAS_BMI1_TARGETS_UP

GO Biological Process (6): monoatomic ion transport (GO:0006811), sodium-independent organic anion transport (GO:0043252), obsolete organic anion transport (GO:0015711), prostaglandin transport (GO:0015732), transmembrane transport (GO:0055085), thyroid hormone transport (GO:0070327)

GO Molecular Function (6): obsolete organic anion transmembrane transporter activity (GO:0008514), prostaglandin transmembrane transporter activity (GO:0015132), obsolete sodium-independent organic anion transmembrane transporter activity (GO:0015347), thyroid hormone transmembrane transporter activity (GO:0015349), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)

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

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
SLC-mediated transport of organic anions	1
SLC-mediated transmembrane transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
transmembrane transport	2
fatty acid transport	1
icosanoid transport	1
cellular process	1
hormone transport	1
prostaglandin transport	1
icosanoid transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
thyroid hormone transport	1
binding	1
transporter activity	1
membrane	1
cell periphery	1
basal plasma membrane	1
plasma membrane region	1
cellular anatomical structure	1

Protein interactions and networks

STRING

730 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLCO4A1	SLC10A1	Q14973	731
SLCO4A1	ABCB11	O95342	622
SLCO4A1	SLC22A11	Q9NSA0	604
SLCO4A1	SLC16A10	Q8TF71	601
SLCO4A1	SLC22A9	Q8IVM8	597
SLCO4A1	SLC16A2	P36021	596
SLCO4A1	SLC22A4	Q9H015	587
SLCO4A1	SLC22A5	O76082	587
SLCO4A1	ABCC3	O15438	583
SLCO4A1	SLC22A7	Q9Y694	578
SLCO4A1	SLC22A8	Q8TCC7	577
SLCO4A1	ABCC4	O15439	510
SLCO4A1	ABCC2	Q92887	502
SLCO4A1	SLC22A6	Q4U2R8	480
SLCO4A1	SLC15A1	P46059	462

IntAct

24 interactions, top by confidence:

A	B	Type	Score
GPR25	SLCO4A1	psi-mi:“MI:0915”(physical association)	0.560
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
HAX1	CHEK1	psi-mi:“MI:0914”(association)	0.530
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.530
SLCO4A1	CCR4	psi-mi:“MI:0915”(physical association)	0.370
CLEC2D	ESYT2	psi-mi:“MI:0914”(association)	0.350
GP9	ESYT2	psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	BCKDK	psi-mi:“MI:0914”(association)	0.350
BSND	PLD2	psi-mi:“MI:0914”(association)	0.350
SLC2A4	RAB29	psi-mi:“MI:0914”(association)	0.350
KLRC1	CLGN	psi-mi:“MI:0914”(association)	0.350
LRRN4CL	BTAF1	psi-mi:“MI:0914”(association)	0.350
SHISAL1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
KLK5	LRP5	psi-mi:“MI:0914”(association)	0.350
LGALS12	ITGA5	psi-mi:“MI:0914”(association)	0.350
SLCO4A1	RAB29	psi-mi:“MI:0914”(association)	0.350
SV2B	C15orf61	psi-mi:“MI:0914”(association)	0.350
TMEM17	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
GPR25	SLCO4A1	psi-mi:“MI:0915”(physical association)	0.000
	SLCO4A1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (79): SLCO4A1 (Proximity Label-MS), SLCO4A1 (Affinity Capture-MS), SLCO4A1 (Affinity Capture-MS), SLCO4A1 (Affinity Capture-MS), SLCO4A1 (Proximity Label-MS), SLCO4A1 (Proximity Label-MS), SLCO4A1 (Negative Genetic), GPR25 (Two-hybrid), SLCO4A1 (Two-hybrid), SLCO4A1 (Negative Genetic), SLCO4A1 (Negative Genetic), SLCO4A1 (Proximity Label-MS), SLCO4A1 (Proximity Label-MS), SLCO4A1 (Proximity Label-MS), SLCO4A1 (Proximity Label-MS)

ESM2 similar proteins: A0A3Q2HW92, A6NDV4, A6NFX1, A6QLK4, B1AWJ5, F1NCD6, F1NJ67, F1PZV2, O35308, O35595, O70461, O95907, Q08DX7, Q0IHM1, Q0P5C0, Q0P5M9, Q13286, Q14728, Q29611, Q2YDU8, Q3T9M1, Q3U481, Q501I9, Q5R8G5, Q5R9A1, Q5U419, Q60HH0, Q61124, Q66H95, Q6NUT3, Q6UXD7, Q6ZMD2, Q7RTT9, Q8BFQ6, Q8CE47, Q8NA29, Q8R0G7, Q8R139, Q8TB61, Q8VCW4

Diamond homologs: F5H094, G3V0H7, O35913, O88397, O94956, P46720, P46721, P70502, Q00910, Q5RFF0, Q6ZQN7, Q71MB6, Q8BGD4, Q8BXB6, Q8HYW2, Q8R3L5, Q91YY5, Q92959, Q96BD0, Q99J94, Q99N01, Q99N02, Q9EP96, Q9EPT5, Q9EPZ7, Q9ERB5, Q9GMU6, Q9H2Y9, Q9JHI3, Q9JJL3, Q9NPD5, Q9NYB5, Q9QXZ6, Q9QYE2, Q9QZX8, Q9UIG8, Q9Y6L6, Q8K078, Q86UG4, Q8C0X7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	111
Likely benign	20
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	Pathogenic

SpliceAI

2235 predictions. Top by Δscore:

Variant	Effect	Δscore
20:62657251:G:GA	donor_loss	1.0000
20:62657251:G:GG	donor_gain	1.0000
20:62657253:G:GG	donor_loss	1.0000
20:62658672:CGCA:C	acceptor_loss	1.0000
20:62658673:GCAG:G	acceptor_loss	1.0000
20:62658674:CA:C	acceptor_loss	1.0000
20:62658675:A:AG	acceptor_gain	1.0000
20:62658675:A:AT	acceptor_loss	1.0000
20:62658676:G:GA	acceptor_gain	1.0000
20:62658676:GC:G	acceptor_gain	1.0000
20:62658676:GCC:G	acceptor_gain	1.0000
20:62658676:GCCA:G	acceptor_gain	1.0000
20:62658676:GCCAT:G	acceptor_gain	1.0000
20:62658764:GACG:G	donor_gain	1.0000
20:62658768:G:GA	donor_loss	1.0000
20:62658768:G:GG	donor_gain	1.0000
20:62658769:T:A	donor_loss	1.0000
20:62660407:CACAG:C	acceptor_loss	1.0000
20:62660409:CAGGA:C	acceptor_loss	1.0000
20:62661176:G:GG	donor_gain	1.0000
20:62665084:GTTTG:G	donor_gain	1.0000
20:62665088:GGTGA:G	donor_loss	1.0000
20:62665089:G:C	donor_loss	1.0000
20:62665090:T:G	donor_loss	1.0000
20:62666378:AG:A	acceptor_gain	1.0000
20:62666379:GG:G	acceptor_gain	1.0000
20:62666564:C:G	donor_gain	1.0000
20:62667911:G:GA	donor_loss	1.0000
20:62667911:G:GG	donor_gain	1.0000
20:62667912:T:G	donor_loss	1.0000

AlphaMissense

4659 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:62658703:G:C	G275R	0.995
20:62658710:C:A	A277D	0.995
20:62665025:T:C	F405L	0.995
20:62665027:C:A	F405L	0.995
20:62665027:C:G	F405L	0.995
20:62658704:G:A	G275D	0.993
20:62658716:G:A	G279D	0.991
20:62660452:T:A	W310R	0.991
20:62660452:T:C	W310R	0.991
20:62656819:G:A	G122D	0.990
20:62656818:G:C	G122R	0.989
20:62660455:T:A	W311R	0.989
20:62660455:T:C	W311R	0.989
20:62666392:T:A	V430E	0.988
20:62666496:A:C	S465R	0.988
20:62666498:C:A	S465R	0.988
20:62666498:C:G	S465R	0.988
20:62656935:A:C	S161R	0.987
20:62656937:C:A	S161R	0.987
20:62656937:C:G	S161R	0.987
20:62656893:A:C	S147R	0.986
20:62656895:C:A	S147R	0.986
20:62656895:C:G	S147R	0.986
20:62656914:T:C	C154R	0.986
20:62656980:G:C	G176R	0.985
20:62657001:G:T	G183W	0.984
20:62657167:G:A	G238D	0.984
20:62658715:G:C	G279R	0.984
20:62664977:T:C	C389R	0.984
20:62657173:G:A	G240D	0.983

dbSNP variants (sampled 300 via entrez): RS1000055912 (20:62644491 T>G), RS1000187702 (20:62654533 C>T), RS1000213019 (20:62680396 G>A), RS1000241589 (20:62686522 G>T), RS1000261581 (20:62660840 T>C), RS1000266813 (20:62648199 G>A), RS1000355514 (20:62648172 C>T), RS1000365844 (20:62675743 G>A), RS1000382399 (20:62660966 C>G,T), RS1000422878 (20:62642672 G>A,C), RS1000498074 (20:62681150 T>A), RS1000515783 (20:62682678 G>A,C), RS1000551357 (20:62653783 A>G), RS1000562525 (20:62685068 C>A,T), RS1000569891 (20:62682904 C>T)

Disease associations

OMIM: gene MIM:612436 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005312_19	Menopause (age at onset)	2.000000e-10
GCST005312_46	Menopause (age at onset)	6.000000e-10
GCST005560_2	Menopause (age at onset)	2.000000e-08
GCST006976_100	Macular thickness	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004704	age at menopause

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2073679 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — SLCO family of organic anion transporting polypeptides

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	4
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	4
Tretinoin	decreases expression	3
bisphenol A	decreases methylation, decreases expression	2
cobaltous chloride	increases expression	2
entinostat	increases expression, affects cotreatment	2
Aerosols	decreases expression, increases expression	2
Air Pollutants	increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Silicon Dioxide	increases expression	2
Valproic Acid	increases methylation, affects expression	2
Cyclosporine	increases expression, decreases expression	2
Particulate Matter	increases abundance, increases expression	2
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
propionaldehyde	increases expression	1
lead acetate	decreases expression	1
withaferin A	increases expression	1
trichostatin A	increases expression	1
3,4-dichloroaniline	increases expression	1
arsenite	increases expression, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
enilconazole	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	increases expression	1
cupric chloride	increases expression	1
nickel sulfate	increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2077128	Functional	TP_TRANSPORTER: inhibition of Taurocholate uptake (Taurochorate: 5 uM, T3: 50 uM) in Xenopus laevis oocytes	Identification of thyroid hormone transporters in humans: different molecules are involved in a tissue-specific manner. — Endocrinology

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2GF	Abcam HeLa SLCO4A1 KO	Cancer cell line	Female
CVCL_D4R2	HCT116-SLCO4A1-KO-c5	Cancer cell line	Male
CVCL_D4R3	HCT116-SLCO4A1-KO-c9	Cancer cell line	Male
CVCL_TP38	HAP1 SLCO4A1 (-) 1	Cancer cell line	Male
CVCL_XT45	HAP1 SLCO4A1 (-) 2	Cancer cell line	Male
CVCL_XT46	HAP1 SLCO4A1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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