SLC5A12

Summary

SLC5A12 (solute carrier family 5 member 12, HGNC:28750) is a protein-coding gene on chromosome 11p14.2, encoding Sodium-coupled monocarboxylate transporter 2 (Q1EHB4). Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter.

Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).

Source: NCBI Gene 159963 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 87 total
• MANE Select transcript: NM_178498

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28750
Approved symbol	SLC5A12
Name	solute carrier family 5 member 12
Location	11p14.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC52019, SMCT2
Ensembl gene	ENSG00000148942
Ensembl biotype	protein_coding
OMIM	612455
Entrez	159963

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000280467, ENST00000396005, ENST00000527405, ENST00000528822, ENST00000533617, ENST00000868799

RefSeq mRNA: 1 — MANE Select: NM_178498 NM_178498

CCDS: CCDS7860

Canonical transcript exons

ENST00000396005 — 15 exons

Exon	Start	End
ENSE00000996619	26697164	26697252
ENSE00001306714	26703531	26703671
ENSE00001328395	26698406	26698535
ENSE00001335822	26721376	26722060
ENSE00001523562	26692489	26692601
ENSE00001690284	26667020	26671251
ENSE00003465543	26683757	26683843
ENSE00003467988	26711307	26711358
ENSE00003480037	26673402	26673529
ENSE00003480677	26681055	26681221
ENSE00003577823	26712641	26712706
ENSE00003630721	26686477	26686544
ENSE00003635193	26678712	26678815
ENSE00003635954	26703793	26703947
ENSE00003692809	26709312	26709379

Expression profiles

Bgee: expression breadth ubiquitous, 105 present calls, max score 91.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5690 / max 251.7203, expressed in 37 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119039	0.3498	32
119040	0.1505	13
119037	0.0344	4
119036	0.0107	4
206229	0.0099	5
119038	0.0066	2
119041	0.0040	3
119042	0.0032	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult mammalian kidney	UBERON:0000082	91.40	gold quality
nephron tubule	UBERON:0001231	89.22	gold quality
jejunal mucosa	UBERON:0000399	88.65	gold quality
kidney	UBERON:0002113	86.38	gold quality
corpus epididymis	UBERON:0004359	86.18	gold quality
kidney epithelium	UBERON:0004819	86.03	gold quality
buccal mucosa cell	CL:0002336	84.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	81.48	gold quality
renal glomerulus	UBERON:0000074	81.26	gold quality
metanephric glomerulus	UBERON:0004736	80.61	gold quality
cortex of kidney	UBERON:0001225	80.55	gold quality
small intestine	UBERON:0002108	78.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.23	gold quality
renal medulla	UBERON:0000362	76.89	gold quality
right atrium auricular region	UBERON:0006631	75.50	gold quality
adult organism	UBERON:0007023	74.90	gold quality
cardiac atrium	UBERON:0002081	72.65	gold quality
metanephros	UBERON:0000081	72.38	gold quality
duodenum	UBERON:0002114	71.88	gold quality
caput epididymis	UBERON:0004358	69.84	gold quality
metanephros cortex	UBERON:0010533	67.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.24	gold quality
jejunum	UBERON:0002115	67.07	gold quality
vena cava	UBERON:0004087	65.84	gold quality
ileal mucosa	UBERON:0000331	65.30	gold quality
cauda epididymis	UBERON:0004360	64.58	silver quality
lower lobe of lung	UBERON:0008949	62.70	silver quality
putamen	UBERON:0001874	59.31	gold quality
superficial temporal artery	UBERON:0001614	57.07	gold quality
nasal cavity epithelium	UBERON:0005384	57.02	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-135	yes	4983.75
E-GEOD-131882	yes	3273.57
E-CURD-119	yes	3200.33
E-MTAB-9388	yes	10.95
E-ANND-3	yes	5.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

159 targeting SLC5A12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358

Literature-anchored findings (GeneRIF, showing 3)

• low-affinity transporter SMCT2 initiates lactate absorption in the early parts of the proximal tubule followed by the participation of the high-affinity transporter SMCT1 in the latter parts of the proximal tubule. (PMID:17692818)
• Results indicate that the SMCT1-PDZK1 interaction thus plays an important role in both lactate handling as well as urate reabsorption in the human kidney. (PMID:30604288)
• Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4(+) T Cell Metabolic Rewiring. (PMID:31708446)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc5a12	ENSDARG00000005004
mus_musculus	Slc5a12	ENSMUSG00000041644
rattus_norvegicus	Slc5a12	ENSRNOG00000028008
drosophila_melanogaster	CG2187	FBGN0017448
drosophila_melanogaster	rumpel	FBGN0029950
drosophila_melanogaster	SLC5A11	FBGN0031998
drosophila_melanogaster	bumpel	FBGN0037895
drosophila_melanogaster	ChT	FBGN0038641
drosophila_melanogaster	salt	FBGN0039872
drosophila_melanogaster	Smvt	FBGN0039873
drosophila_melanogaster	CG31262	FBGN0051262
drosophila_melanogaster	CG31668	FBGN0051668
drosophila_melanogaster	CG33124	FBGN0053124
drosophila_melanogaster	kumpel	FBGN0250757
caenorhabditis_elegans		WBGENE00000501

Paralogs (12): SLC5A1 (ENSG00000100170), SLC5A4 (ENSG00000100191), SLC5A5 (ENSG00000105641), SLC5A7 (ENSG00000115665), SLC5A9 (ENSG00000117834), SLC5A6 (ENSG00000138074), SLC5A2 (ENSG00000140675), SLC5A10 (ENSG00000154025), SLC5A11 (ENSG00000158865), SLC5A3 (ENSG00000198743), SLC5A8 (ENSG00000256870), (ENSG00000293606)

Protein

Protein identifiers

Sodium-coupled monocarboxylate transporter 2 — Q1EHB4 (reviewed: Q1EHB4)

Alternative names: Electroneutral sodium monocarboxylate cotransporter, Low-affinity sodium-lactate cotransporter, Solute carrier family 5 member 12

All UniProt accessions (3): Q1EHB4, E9PLZ7, G3V1E3

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina.

Subcellular location. Apical cell membrane.

Activity regulation. Cotransport of monocarboxylates and nicotinate strongly inhibited by ibuprofen, fenoprofen and ketoprofen.

Similarity. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q1EHB4-1	1	yes
Q1EHB4-2	2

RefSeq proteins (1): NP_848593* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001734	Na/solute_symporter	Family
IPR038377	Na/Glc_symporter_sf	Homologous_superfamily
IPR042700	SMCT2_SLC5sbd	Domain
IPR051163	Sodium:Solute_Symporter_SSF	Family

Pfam: PF00474

Catalyzed reactions (Rhea), 6 shown:

• (S)-lactate(out) + Na(+)(out) = (S)-lactate(in) + Na(+)(in) (RHEA:75791)
• nicotinate(out) + Na(+)(out) = nicotinate(in) + Na(+)(in) (RHEA:75795)
• pyruvate(out) + Na(+)(out) = pyruvate(in) + Na(+)(in) (RHEA:75799)
• butanoate(out) + Na(+)(out) = butanoate(in) + Na(+)(in) (RHEA:75803)
• propanoate(out) + Na(+)(out) = propanoate(in) + Na(+)(in) (RHEA:75807)
• acetoacetate(out) + Na(+)(out) = acetoacetate(in) + Na(+)(in) (RHEA:75811)

UniProt features (34 total): topological domain 14, transmembrane region 13, splice variant 2, sequence conflict 2, chain 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q1EHB4-F1	85.00	0.59

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 (1): 480

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-428643	Organic anion transport by SLC5/17/25 transporters
R-HSA-427601	Inorganic anion exchange by SLC26 transporters
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 112 (showing top): GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, CDP_01, RGTTAMWNATT_HNF1_01, GOBP_ORGANIC_ANION_TRANSPORT, HP1SITEFACTOR_Q6, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, GOCC_APICAL_PLASMA_MEMBRANE, IVANOVA_HEMATOPOIESIS_STEM_CELL_SHORT_TERM, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_SODIUM_ION_TRANSPORT, GOCC_APICAL_PART_OF_CELL

GO Biological Process (7): monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), monocarboxylic acid transport (GO:0015718), sodium ion transmembrane transport (GO:0035725), lactate transmembrane transport (GO:0035873), transmembrane transport (GO:0055085), obsolete organic acid transmembrane transport (GO:1903825)

GO Molecular Function (6): organic acid:sodium symporter activity (GO:0005343), lactate transmembrane transporter activity (GO:0015129), symporter activity (GO:0015293), monocarboxylate:sodium symporter activity (GO:0140161), solute:sodium symporter activity (GO:0015370), transmembrane transporter activity (GO:0022857)

GO Cellular Component (5): nucleoplasm (GO:0005654), 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
SLC-mediated transport of organic anions	1
SLC-mediated transport of inorganic anions	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
monocarboxylic acid transmembrane transporter activity	2
cellular anatomical structure	2
metal ion transport	1
carboxylic acid transport	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
lactate transport	1
carboxylic acid transmembrane transport	1
cellular process	1
solute:sodium symporter activity	1
lactate transmembrane transport	1
secondary active transmembrane transporter activity	1
organic acid:sodium symporter activity	1
sodium ion transmembrane transporter activity	1
solute:monoatomic cation symporter activity	1
transporter activity	1
transmembrane transport	1
nuclear lumen	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
extracellular vesicle	1

Protein interactions and networks

STRING

967 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC5A12	SLC22A12	Q96S37	968
SLC5A12	CEBPD	P49716	773
SLC5A12	SLC22A11	Q9NSA0	740
SLC5A12	SLC2A9	Q9NRM0	724
SLC5A12	SLC22A13	Q9Y226	592
SLC5A12	SLC16A3	O15427	591
SLC5A12	SLC16A1	P53985	582
SLC5A12	SLC16A7	O60669	580
SLC5A12	SLC26A4	O43511	579
SLC5A12	PDZK1	Q5T2W1	559
SLC5A12	SLC17A1	Q14916	532
SLC5A12	SLC16A4	O15374	518
SLC5A12	SLC13A3	Q8WWT9	500
SLC5A12	SLC16A14	Q7RTX9	492
SLC5A12	SLC16A8	O95907	488

IntAct

129 interactions, top by confidence:

A	B	Type	Score
SLC5A12	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
MAST2	SLC5A12	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
MAST1	SLC5A12	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	PTPN13	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	PALS2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC5A12	PCLO	psi-mi:“MI:0407”(direct interaction)	0.440
MPDZ	SLC5A12	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (38): TAX1BP1 (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), SLC5A12 (Affinity Capture-MS), ABCB1 (Affinity Capture-MS), ATP11B (Affinity Capture-MS), ATP11C (Affinity Capture-MS), ATP1B3 (Affinity Capture-MS), ATP6V0A1 (Affinity Capture-MS), ATP6V0A2 (Affinity Capture-MS), ATP6V0C (Affinity Capture-MS), ATP6V0D1 (Affinity Capture-MS), ATP6V1A (Affinity Capture-MS), ATP6V1B2 (Affinity Capture-MS), ATP8A1 (Affinity Capture-MS), CACNA2D1 (Affinity Capture-MS)

ESM2 similar proteins: A1L3M3, A7MBD8, B3TP03, B5D5N9, D3ZMM8, O08812, O61369, P11170, P13866, P18581, P30823, P30825, P52569, P70423, P83740, Q01650, Q09143, Q1EHB4, Q22397, Q28I80, Q3ZMH1, Q49B93, Q59I64, Q5BL81, Q5PR34, Q5RAE3, Q5RAG7, Q5RKI7, Q63016, Q6DCE8, Q7SYH5, Q7T384, Q7YQK4, Q8BGK6, Q8BYF6, Q8N695, Q8TCU3, Q8WY07, Q91WN3, Q92536

Diamond homologs: A7MBD8, O70247, P83740, Q1EHB4, Q3ZMH1, Q49B93, Q5BL81, Q5U4D8, Q63008, Q7SYH5, Q7T384, Q8BYF6, Q8N695, Q92911, Q99PN0, Q9XT77, Q9Y289, Q5E733

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 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	52.9×	2e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	50.4×	2e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	50.4×	2e-06
Long-term potentiation	5	44.1×	3e-06
Assembly and cell surface presentation of NMDA receptors	8	37.6×	3e-09
Neurexins and neuroligins	9	32.8×	1e-09
Protein-protein interactions at synapses	5	24.6×	5e-05
RHOA GTPase cycle	5	6.9×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	78.9×	3e-16
protein localization to synapse	6	56.7×	8e-08
receptor clustering	7	53.9×	1e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	42.8×	4e-08
cell-cell adhesion	11	13.8×	6e-08
protein-containing complex assembly	8	11.2×	3e-05
Golgi organization	5	8.3×	7e-03
chemical synaptic transmission	7	6.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2259 predictions. Top by Δscore:

Variant	Effect	Δscore
11:26686462:T:A	donor_gain	1.0000
11:26692487:A:AC	donor_gain	1.0000
11:26692488:C:CC	donor_gain	1.0000
11:26692491:AAG:A	donor_gain	1.0000
11:26692516:G:C	donor_gain	1.0000
11:26703529:A:AC	donor_gain	1.0000
11:26703530:C:CC	donor_gain	1.0000
11:26703530:CAG:C	donor_gain	1.0000
11:26703791:A:AC	donor_gain	1.0000
11:26703792:C:CC	donor_gain	1.0000
11:26711302:CTCA:C	donor_loss	1.0000
11:26711303:TCAC:T	donor_loss	1.0000
11:26711304:CAC:C	donor_loss	1.0000
11:26711305:A:AC	donor_gain	1.0000
11:26711305:ACCT:A	donor_loss	1.0000
11:26711306:C:CC	donor_gain	1.0000
11:26711306:C:CG	donor_loss	1.0000
11:26712636:CTTA:C	donor_loss	1.0000
11:26712637:TTACC:T	donor_loss	1.0000
11:26712638:TACCG:T	donor_loss	1.0000
11:26712639:A:AC	donor_gain	1.0000
11:26712640:C:CC	donor_gain	1.0000
11:26712640:CCGT:C	donor_gain	1.0000
11:26712702:AAGTA:A	acceptor_gain	1.0000
11:26712703:AGTA:A	acceptor_gain	1.0000
11:26712704:GTA:G	acceptor_gain	1.0000
11:26712705:TA:T	acceptor_gain	1.0000
11:26712706:AC:A	acceptor_loss	1.0000
11:26712707:C:CC	acceptor_gain	1.0000
11:26671099:G:A	donor_gain	0.9900

AlphaMissense

3998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:26697173:C:T	G344E	0.998
11:26697175:A:C	S343R	0.998
11:26697175:A:T	S343R	0.998
11:26697177:T:G	S343R	0.998
11:26703567:C:G	R262P	0.998
11:26721385:G:C	S110R	0.998
11:26721385:G:T	S110R	0.998
11:26721387:T:G	S110R	0.998
11:26721535:G:C	S60R	0.998
11:26721535:G:T	S60R	0.998
11:26721537:T:G	S60R	0.998
11:26721545:A:G	L57P	0.998
11:26703554:G:C	C266W	0.997
11:26712689:G:C	F119L	0.997
11:26712689:G:T	F119L	0.997
11:26712691:A:G	F119L	0.997
11:26686532:C:T	G389D	0.996
11:26698476:C:T	G294D	0.996
11:26703537:G:T	A272D	0.996
11:26703637:A:G	W239R	0.996
11:26703637:A:T	W239R	0.996
11:26703890:C:G	G195R	0.996
11:26721532:G:C	F61L	0.996
11:26721532:G:T	F61L	0.996
11:26721534:A:G	F61L	0.996
11:26721641:C:T	G25E	0.996
11:26683793:G:C	F424L	0.995
11:26683793:G:T	F424L	0.995
11:26683795:A:G	F424L	0.995
11:26692555:C:G	D363H	0.995

dbSNP variants (sampled 300 via entrez): RS1000007018 (11:26687727 T>G), RS1000026764 (11:26681072 A>G), RS1000202236 (11:26675507 C>G,T), RS1000233446 (11:26681653 A>G,T), RS1000320569 (11:26688048 G>A), RS1000388781 (11:26711718 T>C), RS1000530291 (11:26677161 A>G,T), RS1000580246 (11:26670367 A>G), RS1000662975 (11:26671448 C>T), RS1000692011 (11:26713476 A>G), RS1000693284 (11:26681164 C>T), RS1000696787 (11:26669124 CTGT>C), RS1000713596 (11:26671196 T>C), RS1000741767 (11:26719125 C>A), RS1000757859 (11:26711928 G>A)

Disease associations

OMIM: gene MIM:612455 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002875_88	Diisocyanate-induced asthma	1.000000e-06
GCST004059_1	Exhaled nitric oxide levels	2.000000e-06
GCST004060_4	Exhaled nitric oxide output	2.000000e-07
GCST005411_5	Thrombin-activatable fibrinolysis inhibitor activation peptide	9.000000e-07
GCST006956_1	Erectile dysfunction	9.000000e-07
GCST008153_1	Lean body mass	5.000000e-06
GCST008163_607	Height	9.000000e-06
GCST009267_13	Dental caries (decayed, missing and filled teeth)	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0005536	nitric oxide exhalation measurement
EFO:0004995	lean body mass

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 — Sodium iodide symporter, sodium-dependent multivitamin transporter and sodium-coupled monocarboxylate transporters

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	3
trichostatin A	increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cadmium	decreases expression, increases abundance	2
Cadmium Chloride	decreases expression, increases abundance	2
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butylbenzyl phthalate	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Vorinostat	increases expression, affects cotreatment	1
Cytarabine	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Folic Acid	increases expression	1
Hydrogen Peroxide	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rifampin	increases expression	1
Silicon Dioxide	increases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4U3	HuH7-SLC5A12-KO-c1	Cancer cell line	Male
CVCL_D4U4	HuH7-SLC5A12-KO-c2	Cancer cell line	Male

Clinical trials (associated diseases)

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