SLC16A4

Summary

SLC16A4 (solute carrier family 16 member 4, HGNC:10925) is a protein-coding gene on chromosome 1p13.3, encoding Probable monocarboxylate transporter 5 (O15374). Probable monocarboxylate transporter.

Predicted to enable monocarboxylic acid transmembrane transporter activity. Predicted to be involved in carboxylic acid transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 9122 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_004696

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10925
Approved symbol	SLC16A4
Name	solute carrier family 16 member 4
Location	1p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MCT4, MCT5
Ensembl gene	ENSG00000168679
Ensembl biotype	protein_coding
OMIM	603878
Entrez	9122

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000369779, ENST00000369781, ENST00000437429, ENST00000461647, ENST00000467986, ENST00000472422, ENST00000492412, ENST00000497687, ENST00000528649, ENST00000541986, ENST00000855890, ENST00000855891, ENST00000855892, ENST00000962116, ENST00000962117

RefSeq mRNA: 6 — MANE Select: NM_004696 NM_001201546, NM_001201547, NM_001201548, NM_001201549, NM_001319220, NM_004696

CCDS: CCDS55621, CCDS55622, CCDS55623, CCDS55624, CCDS823

Canonical transcript exons

ENST00000369779 — 9 exons

Exon	Start	End
ENSE00001190932	110382834	110382966
ENSE00001842320	110390865	110391026
ENSE00002183999	110362857	110363893
ENSE00003499218	110376950	110377161
ENSE00003555131	110375458	110375551
ENSE00003609628	110381652	110381795
ENSE00003629524	110378853	110379356
ENSE00003682701	110380982	110381143
ENSE00003683168	110389237	110389355

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 98.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8706 / max 342.6233, expressed in 1071 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13743	5.8964	984
13744	1.9741	717

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	98.90	gold quality
nephron tubule	UBERON:0001231	97.68	gold quality
kidney epithelium	UBERON:0004819	95.76	gold quality
renal glomerulus	UBERON:0000074	94.76	gold quality
metanephric glomerulus	UBERON:0004736	94.53	gold quality
pigmented layer of retina	UBERON:0001782	94.14	gold quality
corpus epididymis	UBERON:0004359	93.72	gold quality
adult organism	UBERON:0007023	93.72	gold quality
adult mammalian kidney	UBERON:0000082	93.71	gold quality
placenta	UBERON:0001987	93.51	gold quality
caput epididymis	UBERON:0004358	93.34	gold quality
kidney	UBERON:0002113	92.51	gold quality
jejunal mucosa	UBERON:0000399	92.33	gold quality
cortex of kidney	UBERON:0001225	90.99	gold quality
choroid plexus epithelium	UBERON:0003911	89.12	gold quality
renal medulla	UBERON:0000362	88.95	gold quality
calcaneal tendon	UBERON:0003701	88.34	gold quality
gall bladder	UBERON:0002110	88.09	gold quality
decidua	UBERON:0002450	87.82	silver quality
metanephros cortex	UBERON:0010533	87.77	gold quality
blood vessel layer	UBERON:0004797	87.73	gold quality
metanephros	UBERON:0000081	87.16	gold quality
tibia	UBERON:0000979	86.43	gold quality
seminal vesicle	UBERON:0000998	86.40	gold quality
descending thoracic aorta	UBERON:0002345	86.27	gold quality
stromal cell of endometrium	CL:0002255	86.08	gold quality
cauda epididymis	UBERON:0004360	85.38	gold quality
thoracic aorta	UBERON:0001515	84.96	gold quality
ascending aorta	UBERON:0001496	84.87	gold quality
left ovary	UBERON:0002119	83.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	33.83
E-ANND-3	yes	9.89

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR2, HIF1A

miRNA regulators (miRDB)

71 targeting SLC16A4, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 40)

• MCT1 was lower and MCT4 similar in Type 2 diabetes versus control. With training, MCT1 content always increased, while MCT4 only increased in control. (PMID:14724187)
• studies demonstrate that the opposing plasma membranes of human syncytiotrophoblast are polarized with respect to both monocarboxylate transporter MCT1 and MCT4 activity and expression (PMID:15135232)
• inhibition of MCT1 and MCT4 activity by pCMBS is mediated through its binding to CD147, acting as an ancillary protein required to maintain the catalytic activity of MCTs 1 and 4, as well as for their translocation to the plasma membrane (PMID:15917240)
• Expressed in leukocytes and platelets; truncated 32kdal form may have a physiological function. (PMID:16403666)
• this study shows conflicting adaptations in MCT1 and MCT4 protein and mRNA levels following training, which may indicate post-transcriptional regulation of MCT expression in human muscle. (PMID:16408234)
• MCT4, like other glycolytic enzymes, is up-regulated by hypoxia through a HIF-1alpha-mediated mechanism (PMID:16452478)
• A single bout of high-intensity exercise decreased both MCT relative abundance (MCT1 and MCT4) in membrane preparations. (PMID:17082373)
• an exercise protocol designed to strain muscle carbohydrate reserves and to result in large increases in lactic acid results in a rapid upregulation of both GLUT-4 and MCT-4 (PMID:18056982)
• Elevated muscle MCT4 in obesity could reflect the need to release greater amounts of muscle lactate. Weight loss decreased MCT4. (PMID:18079261)
• Expression of MCT1 and MCT4 showed a significant gain in plasma membranes of colorectal neoplasms. (PMID:18188595)
• MCT4 was reduced by 35% in vastus lateralis in chronic obstructive pulmonary disease. (PMID:18635880)
• Report effects of high-intensity training on muscle MCT1/4 and postexercise recovery of muscle lactate and hydrogen ions in women. (PMID:18832090)
• Suggest that the specific interaction of MCT4 with beta(1)-integrin may regulate cell migration through modulation of focal adhesions. (PMID:19073896)
• Data suggest that hypoxia increases lactate release from adipocytes and modulates MCT expression in a type-specific manner, with MCT1 and MCT4, but not MCT2 expression, being hypoxia-inducible transcription factor-1 (HIF-1) dependent. (PMID:19876643)
• In corneal epithelium and cell lines human monocarboxylic acid transporter 4 is expressed at mRNA and protein levels. (PMID:20035863)
• MCT1, MCT2, and MCT4 protein expression in breast, colon, lung, and ovary neoplasms, as well as CD147 and CD44, were analysed. (PMID:20454640)
• The result suggest that co-expression of CD147 and MCT1/MCT4 is related to drug resistance during EOC metastasis and could be useful therapeutic targets to prevent the development of incurable, recurrent and drug resistance EOC. (PMID:20658178)
• We found that the expression of the monocarboxylate transporters MCT1 and MCT4, but not MCT5, in human lung cancer cell lines was significantly correlated with invasiveness (PMID:21306479)
• breast cancer cells specifically induce the expression of MCT4 in cancer-associated fibroblasts; the expression of MCT4 in cancer-associated fibroblasts is due to oxidative stress (PMID:21558814)
• Data show that a significant increase of MCT2 and MCT4 expression in the cytoplasm of tumour cells and a significant decrease in both MCT1 and CD147 expression in prostate tumour cells was observed when compared to normal tissue. (PMID:21787388)
• both MCT1 and CD147, but not MCT4, were associated with GLUT1 and CAIX expression in a large series of invasive breast carcinoma samples (PMID:21870331)
• CD147 subunit of lactate/H+ symporters MCT1 and hypoxia-inducible MCT4 is critical for energetics and growth of glycolytic tumors. (PMID:21930917)
• High GLUT1 plus high MCT4 expression indicated an aggressive tumor behavior in adenocarcinomas. (PMID:22153830)
• Report SNPs in MCT4 (SLC16A3) gene in the Chinese and Indian populations of Singapore. (PMID:22240841)
• Data suggest that MCT4 may serve as a novel metabolic target to reverse the Warburg effect and limit disease progression in renal cell carcinoma. (PMID:22362593)
• Combined application of GLUT-1, MCT-1, and MCT-4 immunohistochemistry might be useful in differentiating malignant pleural mesothelioma from reactive mesothelial hyperplasia. (PMID:23187830)
• Overexpression of MCT4 is associated with gliomas. (PMID:23258846)
• MCT1 and MCT4 biomarkers were employed to determine the metabolic state of proliferative cancer cells. (PMID:23574725)
• High MCT4 contributes to the growth of colorectal cancer with vascular endothelial growth factor. (PMID:23780984)
• Upregulation of MCT4 expression via SLC16A3 promoter DNA methylation is associated with clear cell renal cell carcinoma. (PMID:23881922)
• Alterations in Cav-1 and MCT4 expression may mark a critical point in the progression from in situ to invasive breast cancer. (PMID:23907124)
• Results suggest that Arginine-278 in transmembrane-spanning domains TMD8 is a critical residue involved in L-lactate recognition by monocarboxylate transporter 4 (hMCT4). (PMID:23935841)
• MCT4 upregulation correlated with the aggressive mesenchymal subset of glioblastoma (GBM), and MCT4 downregulation correlated with the less aggressive G-CIMP (Glioma CpG Methylator Phenotype) subset of GBM. (PMID:24077291)
• Coexpression of CAIV with MCT1 and MCT4 resulted in a significant increase in MCT transport activity. (PMID:24338019)
• Aberrant expression of MCT4 in carcinoma cells serves as a novel, independent prognostic factor for HCC, indicating a poorer patient outcome. (PMID:24433439)
• Decreased astroglial monocarboxylate transporter 4 expression in temporal lobe epilepsy (PMID:24464262)
• The critical role of MCT4 in cell proliferation. (PMID:24498219)
• These results indicate there are no additional benefits of IHT when compared to similar normoxic training. Hence, the addition of the hypoxic stimulus on anaerobic performance or MCT expression after a three-week training period is ineffective. (PMID:24797797)
• MCT4 demonstrated the strongest deleterious impact on survival in triple negative breast cancer patients.MCT4 should serve as a new prognostic factor in node-negative breast cancers. (PMID:25058459)
• High monocarboxylate transporter 4 protein expression in stromal cells is associated with invasiveness in gastric cancer. (PMID:25374230)

Cross-species orthologs

17 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc16a4	ENSDARG00000042807
mus_musculus	Slc16a4	ENSMUSG00000027896
rattus_norvegicus	Slc16a4	ENSRNOG00000018131
drosophila_melanogaster	Mct1	FBGN0023549
drosophila_melanogaster	CG14196	FBGN0031002
drosophila_melanogaster	CG8051	FBGN0031012
drosophila_melanogaster	Sln	FBGN0033657
drosophila_melanogaster	CG8468	FBGN0033913
drosophila_melanogaster	Targ	FBGN0033955
drosophila_melanogaster	CG13907	FBGN0035173
drosophila_melanogaster	out	FBGN0259834
caenorhabditis_elegans		WBGENE00003986
caenorhabditis_elegans		WBGENE00010834
caenorhabditis_elegans		WBGENE00015273
caenorhabditis_elegans		WBGENE00015676
caenorhabditis_elegans		WBGENE00020168
caenorhabditis_elegans		WBGENE00021227

Paralogs (13): SLC16A8 (ENSG00000100156), SLC16A6 (ENSG00000108932), SLC16A10 (ENSG00000112394), SLC16A7 (ENSG00000118596), SLC16A3 (ENSG00000141526), SLC16A2 (ENSG00000147100), SLC16A12 (ENSG00000152779), SLC16A1 (ENSG00000155380), SLC16A14 (ENSG00000163053), SLC16A9 (ENSG00000165449), SLC16A5 (ENSG00000170190), SLC16A11 (ENSG00000174326), SLC16A13 (ENSG00000174327)

Protein

Protein identifiers

Probable monocarboxylate transporter 5 — O15374 (reviewed: O15374)

Alternative names: Monocarboxylate transporter 4, Solute carrier family 16 member 4

All UniProt accessions (4): E9PKZ1, E9PRV1, O15374, H0YEG4

UniProt curated annotations — full annotation on UniProt →

Function. Probable monocarboxylate transporter.

Subcellular location. Cell membrane.

Similarity. Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.

Isoforms (5)

UniProt ID	Names	Canonical?
O15374-1	1	yes
O15374-2	2
O15374-3	3
O15374-4	4
O15374-5	5

RefSeq proteins (6): NP_001188475, NP_001188476, NP_001188477, NP_001188478, NP_001306149, NP_004687* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR050327	Proton-linked_MCT	Family

Pfam: PF07690

UniProt features (38 total): topological domain 13, transmembrane region 12, splice variant 6, compositionally biased region 2, sequence variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15374-F1	79.84	0.56

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 125 (showing top): JI_RESPONSE_TO_FSH_UP, MODULE_162, MODULE_64, AMIT_SERUM_RESPONSE_40_MCF10A, GGAMTNNNNNTCCY_UNKNOWN, GOBP_ORGANIC_ACID_TRANSPORT, NFKB_Q6, MODULE_368, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, ROZANOV_MMP14_TARGETS_UP, MARTIN_NFKB_TARGETS_UP, MARTIN_VIRAL_GPCR_SIGNALING_UP, MODULE_99, GOBP_ORGANIC_ANION_TRANSPORT, MODULE_71

GO Biological Process (3): monocarboxylic acid transport (GO:0015718), carboxylic acid transmembrane transport (GO:1905039), transmembrane transport (GO:0055085)

GO Molecular Function (4): monocarboxylic acid transmembrane transporter activity (GO:0008028), symporter activity (GO:0015293), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
carboxylic acid transport	2
transmembrane transport	2
transport	1
cellular process	1
monocarboxylic acid transport	1
carboxylic acid transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
binding	1
transporter activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC16A4	BSG	P35613	964
SLC16A4	CA9	Q16790	886
SLC16A4	CBLL1	Q75N03	874
SLC16A4	LDHA	P00338	782
SLC16A4	SLC2A1	P11166	775
SLC16A4	HIF1A	Q16665	696
SLC16A4	SLC2A3	P11169	680
SLC16A4	CA2	P00918	643
SLC16A4	PKM	P14618	643
SLC16A4	PGK1	P00558	638
SLC16A4	SLC9A1	P19634	621
SLC16A4	SLC3A2	P08195	619
SLC16A4	PDK1	Q15118	611
SLC16A4	HK2	P52789	601
SLC16A4	PFKFB3	Q16875	601

IntAct

6 interactions, top by confidence:

A	B	Type	Score
SLC16A4	AKR1A1	psi-mi:“MI:0915”(physical association)	0.400
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
GPC3	PXDNL	psi-mi:“MI:0914”(association)	0.350
SLC16A4	APP	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): SLC16A4 (Two-hybrid), SLC16A4 (Two-hybrid), CD44 (Affinity Capture-Western), SLC16A4 (Affinity Capture-Western), SLC16A4 (Affinity Capture-MS), SLC16A4 (Proximity Label-MS), SLC16A4 (Proximity Label-MS), SLC16A4 (Affinity Capture-RNA), SLC16A4 (Affinity Capture-Western), AKR1A1 (Affinity Capture-MS), DDX54 (Cross-Linking-MS (XL-MS)), SLC16A4 (Affinity Capture-MS), APP (Affinity Capture-MS), BSG (Affinity Capture-MS), CTSD (Affinity Capture-MS)

ESM2 similar proteins: A1L1W9, A1L272, A2SWM2, A8WGF7, D3Z5L6, D4A9K4, F4IKF6, G5E8K6, G8XYX6, O15374, O35440, O70324, O70451, O70594, P30638, P36021, P53985, P53986, P53987, P53988, P57057, P58355, Q00910, Q03064, Q0VA82, Q3MHW6, Q3U9N9, Q569T7, Q5M7K3, Q5U3U7, Q5XGK0, Q63344, Q640L2, Q6DCX5, Q6GPQ3, Q6NMN6, Q6NT16, Q6NUB3, Q7ZWG6, Q8AVC3

Diamond homologs: A1L1W9, G8XYX6, O15374, O70324, P36021, Q3U9N9, Q7RTX9, Q8K1P8, Q8R0M8, Q8TF71, Q91Y77, D4A734, G5E8K6, O15427, O35308, O35440, O35910, O60669, O70451, O70461, O95907, P53985, P53986, P53987, P53988, P57787, P57788, Q03064, Q17QR6, Q3MHW6, Q503M4, Q5NC32, Q63344, Q66HE2, Q6GM59, Q6P2X9, Q6ZSM3, Q7RTY0, Q8BGC3, Q8CE94

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SLC16A4	up-regulates	Survival
SLC16A4	down-regulates	Apoptosis

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1514 predictions. Top by Δscore:

Variant	Effect	Δscore
1:110381797:T:C	acceptor_gain	1.0000
1:110382916:C:CT	acceptor_gain	1.0000
1:110376941:TCTAC:T	donor_loss	0.9900
1:110376942:CTACT:C	donor_loss	0.9900
1:110376943:TAC:T	donor_loss	0.9900
1:110376944:AC:A	donor_loss	0.9900
1:110376945:CT:C	donor_loss	0.9900
1:110376946:TCACC:T	donor_loss	0.9900
1:110376947:C:CC	donor_loss	0.9900
1:110376948:A:AC	donor_gain	0.9900
1:110376949:C:CC	donor_gain	0.9900
1:110377159:TACC:T	acceptor_loss	0.9900
1:110377160:ACC:A	acceptor_loss	0.9900
1:110377161:CCT:C	acceptor_loss	0.9900
1:110377162:CTGGA:C	acceptor_loss	0.9900
1:110377163:TGGAA:T	acceptor_loss	0.9900
1:110381144:C:CA	acceptor_loss	0.9900
1:110381145:T:G	acceptor_loss	0.9900
1:110381644:GGAC:G	donor_loss	0.9900
1:110381645:GACTC:G	donor_loss	0.9900
1:110381646:ACT:A	donor_loss	0.9900
1:110381647:CTCAC:C	donor_loss	0.9900
1:110381648:T:TA	donor_loss	0.9900
1:110381649:C:CA	donor_loss	0.9900
1:110381650:A:AT	donor_loss	0.9900
1:110381651:CCGGG:C	donor_loss	0.9900
1:110381792:GGACC:G	acceptor_loss	0.9900
1:110381793:GACCT:G	acceptor_loss	0.9900
1:110381794:ACCTT:A	acceptor_loss	0.9900
1:110381795:CCTTA:C	acceptor_loss	0.9900

AlphaMissense

3191 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:110381704:G:C	S104R	0.995
1:110381704:G:T	S104R	0.995
1:110381706:T:G	S104R	0.995
1:110379307:A:C	S192R	0.990
1:110379307:A:T	S192R	0.990
1:110379309:T:G	S192R	0.990
1:110378950:A:C	S311R	0.985
1:110378950:A:T	S311R	0.985
1:110378952:T:G	S311R	0.985
1:110377142:A:C	S350R	0.983
1:110377142:A:T	S350R	0.983
1:110377144:T:G	S350R	0.983
1:110381053:C:G	R152P	0.982
1:110378907:C:G	A326P	0.981
1:110381664:C:G	G118R	0.981
1:110381664:C:T	G118R	0.981
1:110381143:C:T	G122D	0.977
1:110363842:C:T	G463D	0.976
1:110363843:C:G	G463R	0.976
1:110378918:A:G	L322P	0.976
1:110381137:C:T	G124D	0.976
1:110378942:G:T	A314E	0.975
1:110381047:C:T	G154E	0.975
1:110381088:G:C	F140L	0.973
1:110381088:G:T	F140L	0.973
1:110381090:A:G	F140L	0.973
1:110381718:C:G	G100R	0.973
1:110381718:C:T	G100R	0.973
1:110363853:G:C	F459L	0.972
1:110363853:G:T	F459L	0.972

dbSNP variants (sampled 300 via entrez): RS1000032405 (1:110372347 G>GT), RS1000037350 (1:110364078 A>C,T), RS1000110280 (1:110370928 A>G), RS1000141406 (1:110370596 C>T), RS1000153275 (1:110381666 A>G), RS1000170092 (1:110374911 T>C), RS1000333211 (1:110368450 C>T), RS1000442891 (1:110377490 G>A), RS1000641442 (1:110365614 C>G), RS1000757988 (1:110391356 C>A), RS1000944716 (1:110387186 C>G), RS1001017378 (1:110379695 A>G), RS1001045052 (1:110378917 C>G,T), RS1001101382 (1:110380014 G>A), RS1001113842 (1:110372564 C>A,G,T)

Disease associations

OMIM: gene MIM:603878 | 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
GCST90002396_138	Mean reticulocyte volume	1.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume

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 — SLC16 family of monocarboxylate transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	6
Benzo(a)pyrene	decreases expression, increases expression, increases methylation, affects methylation	4
Cyclosporine	decreases expression, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, affects expression	3
Vorinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Air Pollutants	increases expression, decreases expression, affects cotreatment, increases abundance	2
Cisplatin	decreases expression, decreases response to substance, increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases expression	1
quercitrin	decreases expression	1
beta-lapachone	increases expression	1
1,6-hexamethylene diisocyanate	affects expression	1
trimellitic anhydride	affects expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
ammonium hexachloroplatinate	affects expression	1
perfluorooctanoic acid	increases expression	1
ferrous chloride	increases expression	1
cupric chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
chromium hexavalent ion	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
palbociclib	increases expression	1

Clinical trials (associated diseases)

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