SLC22A16

Summary

SLC22A16 (solute carrier family 22 member 16, HGNC:20302) is a protein-coding gene on chromosome 6q21, encoding Solute carrier family 22 member 16 (Q86VW1). Facilitative organic cation transporter that mediates the transport of carnitine as well as the polyamine spermidine.

This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells.

Source: NCBI Gene 85413 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 118 total
• Druggable target: yes
• MANE Select transcript: NM_033125

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20302
Approved symbol	SLC22A16
Name	solute carrier family 22 member 16
Location	6q21
Locus type	gene with protein product
Status	Approved
Aliases	FLIPT2, CT2, OKB1, OAT6
Ensembl gene	ENSG00000004809
Ensembl biotype	protein_coding
OMIM	608276
Entrez	85413

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000330550, ENST00000368919, ENST00000424139, ENST00000434949, ENST00000437378, ENST00000451557, ENST00000460159, ENST00000461487, ENST00000941077, ENST00000941078

RefSeq mRNA: 1 — MANE Select: NM_033125 NM_033125

CCDS: CCDS5084

Canonical transcript exons

ENST00000368919 — 8 exons

Exon	Start	End
ENSE00000442539	110431171	110431270
ENSE00000975499	110435852	110435961
ENSE00003550868	110476522	110476613
ENSE00003574797	110456538	110457017
ENSE00003586608	110424687	110425085
ENSE00003788138	110446873	110446990
ENSE00003789235	110438720	110438847
ENSE00003789756	110442244	110442775

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 94.23.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8155 / max 206.0692, expressed in 165 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75052	0.6303	140
75051	0.0902	20
75050	0.0450	16
75048	0.0303	15
75049	0.0176	4
204148	0.0022	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	94.23	gold quality
trabecular bone tissue	UBERON:0002483	94.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.21	gold quality
bone marrow	UBERON:0002371	87.82	gold quality
left testis	UBERON:0004533	85.26	gold quality
right testis	UBERON:0004534	84.46	gold quality
epithelium of nasopharynx	UBERON:0001951	83.80	gold quality
testis	UBERON:0000473	83.31	gold quality
adult organism	UBERON:0007023	82.49	gold quality
bronchial epithelial cell	CL:0002328	80.98	gold quality
bone marrow cell	CL:0002092	80.91	gold quality
bronchus	UBERON:0002185	79.34	gold quality
monocyte	CL:0000576	77.11	gold quality
leukocyte	CL:0000738	76.68	gold quality
granulocyte	CL:0000094	71.81	gold quality
epithelial cell of pancreas	CL:0000083	71.33	gold quality
pancreatic ductal cell	CL:0002079	69.97	silver quality
tibialis anterior	UBERON:0001385	67.43	silver quality
blood	UBERON:0000178	67.08	gold quality
left ventricle myocardium	UBERON:0006566	66.06	gold quality
germinal epithelium of ovary	UBERON:0001304	65.52	silver quality
cardiac muscle of right atrium	UBERON:0003379	65.42	gold quality
mucosa of paranasal sinus	UBERON:0005030	64.80	silver quality
smooth muscle tissue	UBERON:0001135	64.79	gold quality
endothelial cell	CL:0000115	62.90	gold quality
myocardium	UBERON:0002349	62.63	gold quality
deltoid	UBERON:0001476	62.22	gold quality
quadriceps femoris	UBERON:0001377	59.95	gold quality
amniotic fluid	UBERON:0000173	58.78	silver quality
oocyte	CL:0000023	58.67	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.76
E-MTAB-6142	no	21.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting SLC22A16, 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-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-145-3P	99.33	67.66	764
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-6788-5P	97.80	66.41	1532
HSA-MIR-764	94.16	64.85	656

Literature-anchored findings (GeneRIF, showing 16)

• identification, expression and function of human CT2 as a carnitine transporter in testis mediating transport of l-carnitine (PMID:12089149)
• Flipts might have a role in carnitine transport, particularly in brain (PMID:12372408)
• Identification as a novel organic cation transporter preferentially expressed in hematopoietic cells and leukemias (PMID:12384147)
• cytotoxic assays, stable transfectants of leukemic Jurkat cells overexpressing SLC22A16 cells became significantly more sensitive to doxorubicin (PMID:15963465)
• may be possible to use progestins to increase the response of endometrioid endometrial carcinoma with SLC22A16 expression to adriamycin-based chemotherapeutic regimens (PMID:17197897)
• Exploratory study suggests that the c.146A>G variation could contribute to variations in the pharmacokinetics of doxorubicin and doxorubicinol in Asian breast cancer patients. (PMID:17559346)
• SLC22A16 was abundantly expressed in clear-cell adenocarcinomaof the ovary. (PMID:17581421)
• that hCT2 can mediate bleomycin-A5 and polyamine uptake, and that the rate of bleomycin-A5 accumulation may account for the differential response to the drug in patients. (PMID:20037140)
• Variant alleles in the ABCB1, SLC22A16 and CYP2B6 genes are associated with response to AC therapy in the treatment of breast cancer. (PMID:20179710)
• Both gene and protein expression of OCT6 were decreased in both CDDP-resistant lung cancer cell lines compared with their expression in their respective parental cells. (PMID:25772757)
• Knockdown of CT2 reduced the growth and viability of acute myeloid leukemia cells with high expression of CT2 (OCI-AML2 and HL60), but not low expression. CT2 knockdown reduced basal oxygen consumption without a concomitant increase in glycolysis. (PMID:25998464)
• Deletions in SLC22A16, a doxorubicin transporter, are associated with a failure to achieve event free survival in immunochemotherapy-treated diffuse large B-cell lymphoma. (PMID:26314988)
• findings may greatly contribute to the elucidation of the roles of the Oct and Myc proteins in osteoblast direct reprogramming. The results may also lead to establishment of novel regenerative therapy for various bone resorption diseases (PMID:26499074)
• Allele C of ABCB1 and allele A of SLC22A16 tended to have a greater association with grade 3/4 febrile neutropenia. (PMID:28036387)
• SLC22A16 DNA hypomethylation might be a compensation for DNA loss to maintain SLC22A16 elevation in GC. SLC22A16 might be a valuable prognostic marker in GC. (PMID:29698084)
• Variants of SLC22A16 Predict the Efficacy of Platinum Combination Chemotherapy in Advanced Non-small-cell Lung Cancer. (PMID:32727751)

Cross-species orthologs

43 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc22a16	ENSDARG00000015869
mus_musculus	Slc22a16	ENSMUSG00000019834
rattus_norvegicus	Slc22a16	ENSRNOG00000063767
drosophila_melanogaster	Orct	FBGN0019952
drosophila_melanogaster	CG15221	FBGN0030331
drosophila_melanogaster	Balat	FBGN0033778
drosophila_melanogaster	CG5592	FBGN0035645
drosophila_melanogaster	CG10486	FBGN0035647
drosophila_melanogaster	CG14691	FBGN0037829
drosophila_melanogaster	CG14855	FBGN0038260
drosophila_melanogaster	CG14856	FBGN0038261
drosophila_melanogaster	CG14857	FBGN0038262
drosophila_melanogaster	CG12783	FBGN0038448
drosophila_melanogaster	CG7333	FBGN0038715
drosophila_melanogaster	CG7342	FBGN0038716
drosophila_melanogaster	CG17751	FBGN0038717
drosophila_melanogaster	CG17752	FBGN0038718
drosophila_melanogaster	CG16727	FBGN0038719
drosophila_melanogaster	CG6231	FBGN0038720
drosophila_melanogaster	CG4465	FBGN0038750
drosophila_melanogaster	CG4462	FBGN0038752
drosophila_melanogaster	CG4459	FBGN0038753
drosophila_melanogaster	CG6356	FBGN0039178
drosophila_melanogaster	CG3690	FBGN0040350
drosophila_melanogaster	CG31103	FBGN0051103
drosophila_melanogaster	CG31106	FBGN0051106
drosophila_melanogaster	CG31272	FBGN0051272
drosophila_melanogaster	CG33233	FBGN0053233
drosophila_melanogaster	CG33234	FBGN0053234
drosophila_melanogaster	Orct2	FBGN0086365
drosophila_melanogaster	CG42269	FBGN0259164
drosophila_melanogaster	CG44098	FBGN0264907
caenorhabditis_elegans		WBGENE00003837
caenorhabditis_elegans	oct-1	WBGENE00003842
caenorhabditis_elegans		WBGENE00003843
caenorhabditis_elegans		WBGENE00006220
caenorhabditis_elegans		WBGENE00008110
caenorhabditis_elegans		WBGENE00011456
caenorhabditis_elegans		WBGENE00014127
caenorhabditis_elegans		WBGENE00017751
caenorhabditis_elegans		WBGENE00019408
caenorhabditis_elegans		WBGENE00020701
caenorhabditis_elegans		WBGENE00044455

Paralogs (22): SLC22A17 (ENSG00000092096), SLC22A2 (ENSG00000112499), SLC22A7 (ENSG00000137204), SLC22A23 (ENSG00000137266), SLC22A14 (ENSG00000144671), SLC22A3 (ENSG00000146477), SLC22A8 (ENSG00000149452), SLC22A9 (ENSG00000149742), 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

Solute carrier family 22 member 16 — Q86VW1 (reviewed: Q86VW1)

Alternative names: Carnitine transporter 2, Fly-like putative transporter 2, Organic cation transporter OKB1, Organic cation/carnitine transporter 6

All UniProt accessions (6): Q86VW1, A0A0K0K1K9, C9JGT0, C9JTF8, C9JU94, X6RE50

UniProt curated annotations — full annotation on UniProt →

Function. Facilitative organic cation transporter that mediates the transport of carnitine as well as the polyamine spermidine. Mediates the partially Na(+)-dependent bidirectional transport of carnitine. May mediate L-carnitine secretion from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in testis and epididymis (at protein level). Expressed in endometrium (at protein level); highly expressed during the normal secretory phase, but expression is significantly reduced in the proliferative phase. Expressed at lower levels in adult tissues including bone marrow (at protein level). Expressed in hematopoietic cells, including CD34(+) leukocytes. Expressed in fetal liver (at protein level), brain, lung, kidney, heart, skeletal muscle, spleen and thymus. Expressed in leukemia cells. Abundantly expressed in ovarian cancer clear-cell adenocarcinoma.

Miscellaneous. Involved in the uptake of clinically used drugs such as anticancer agents doxorubicin and bleomycin.

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

Isoforms (3)

UniProt ID	Names	Canonical?
Q86VW1-1	1	yes
Q86VW1-2	2
Q86VW1-3	3

RefSeq proteins (1): NP_149116* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF00083

Catalyzed reactions (Rhea), 2 shown:

• (R)-carnitine(in) = (R)-carnitine(out) (RHEA:34959)
• spermidine(in) = spermidine(out) (RHEA:35039)

UniProt features (31 total): transmembrane region 12, glycosylation site 8, sequence variant 4, splice variant 3, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86VW1-F1	85.19	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 (8): 57, 65, 68, 108, 345, 352, 546, 558

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-549127	SLC-mediated transport of organic cations
R-HSA-382551	Transport of small molecules
R-HSA-425366
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-549132

MSigDB gene sets: 79 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_ACID_SECRETION, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_AMINO_ACID_BETAINE_TRANSPORT, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_QUATERNARY_AMMONIUM_GROUP_TRANSPORT, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_SECRETION, GOBP_ORGANIC_CATION_TRANSPORT, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_FERTILIZATION, MODULE_207, GOBP_TRANSMEMBRANE_TRANSPORT

GO Biological Process (12): monoatomic ion transport (GO:0006811), spermatogenesis (GO:0007283), single fertilization (GO:0007338), obsolete organic cation transport (GO:0015695), carnitine transport (GO:0015879), cell differentiation (GO:0030154), flagellated sperm motility (GO:0030317), acid secretion (GO:0046717), carnitine transmembrane transport (GO:1902603), spermidine transmembrane transport (GO:1903711), amine transport (GO:0015837), transmembrane transport (GO:0055085)

GO Molecular Function (5): amine transmembrane transporter activity (GO:0005275), obsolete organic cation transmembrane transporter activity (GO:0015101), carnitine transmembrane transporter activity (GO:0015226), spermidine transmembrane transporter activity (GO:0015606), transmembrane transporter activity (GO:0022857)

GO Cellular Component (3): cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
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
cellular anatomical structure	2
developmental process involved in reproduction	1
male gamete generation	1
fertilization	1
amino-acid betaine transport	1
cellular developmental process	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
secretion	1
carnitine transport	1
spermidine transport	1
polyamine transmembrane transport	1
nitrogen compound transport	1
cellular process	1
amine transport	1
transmembrane transporter activity	1
quaternary ammonium group transmembrane transporter activity	1
modified amino acid transmembrane transporter activity	1
carnitine transmembrane transport	1
polyamine transmembrane transporter activity	1
spermidine transmembrane transport	1
transporter activity	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

842 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC22A16	SLC67A1	Q96BI1	511
SLC22A16	CBR3	O75828	499
SLC22A16	SLC47A1	Q96FL8	480
SLC22A16	CBR1	P16152	468
SLC22A16	ABCB1	P08183	465
SLC22A16	MRPS18A	Q9NVS2	458
SLC22A16	SMOX	Q9NWM0	457
SLC22A16	SLC29A3	Q9BZD2	456
SLC22A16	SLCO1A2	P46721	454
SLC22A16	SERTAD3	Q9UJW9	443
SLC22A16	AZIN1	O14977	432
SLC22A16	ABCC1	P33527	432
SLC22A16	SLC15A1	P46059	429
SLC22A16	SLC28A3	Q9HAS3	424
SLC22A16	ABCD4	O14678	423

IntAct

5 interactions, top by confidence:

A	B	Type	Score
SLC22A16	APBA3	psi-mi:“MI:0914”(association)	0.530
SLC22A16	AGPAT2	psi-mi:“MI:0914”(association)	0.350
SLC22A16	TMBIM6	psi-mi:“MI:0914”(association)	0.350

BioGRID (71): GBP5 (Affinity Capture-MS), ACSM1 (Affinity Capture-MS), TMEM104 (Affinity Capture-MS), APBA3 (Affinity Capture-MS), RAB21 (Affinity Capture-MS), SLC25A46 (Affinity Capture-MS), GJC1 (Affinity Capture-MS), LPCAT3 (Affinity Capture-MS), PXMP2 (Affinity Capture-MS), MTX3 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), TMEM56 (Affinity Capture-MS), SLC29A1 (Affinity Capture-MS), ATL3 (Affinity Capture-MS), SLC26A2 (Affinity Capture-MS)

ESM2 similar proteins: A6NK97, A6QLW8, A7MBE0, A9CB25, B2GV36, O15245, O35956, O57379, O75751, O88446, O88909, Q1RPP5, Q3YAW7, Q4U2R8, Q4W8A2, Q4W8A3, Q5NCM1, Q5R540, Q5R9C4, Q5RCH6, Q5RLM2, Q66J52, Q66J54, Q6A4L0, Q6DFR1, Q6NUB3, Q6NWF1, Q6NYN7, Q70BM6, Q80UJ1, Q863T6, Q864Z3, Q86VW1, Q8HY24, Q8MK48, Q8R0S9, Q8TCC7, Q8VC69, Q91WU2, Q9H015

Diamond homologs: A0A0H2VG78, A0A3Q2IDB4, A0A8B7HA97, A6NK97, A6QLW8, A7MBE0, A9CB25, B2GV36, G1SZD9, O02713, O08966, O15244, O15245, O35956, O57379, O70577, O70594, O75751, O76082, O77504, O88446, O88909, P22732, P58353, P58354, Q17QN9, Q1RPP5, Q28ES4, Q2KIV1, Q3YAW7, Q3ZAV1, Q4U2R8, Q4W8A2, Q4W8A3, Q504N2, Q5R540, Q5R5H7, Q5R9C4, Q5RC45, Q5RCH6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1435 predictions. Top by Δscore:

Variant	Effect	Δscore
6:110435847:CTTA:C	donor_loss	1.0000
6:110435848:TTA:T	donor_loss	1.0000
6:110435849:TA:T	donor_loss	1.0000
6:110435850:A:AT	donor_loss	1.0000
6:110435957:TGTTT:T	acceptor_gain	1.0000
6:110435958:GTTT:G	acceptor_gain	1.0000
6:110435959:TTT:T	acceptor_gain	1.0000
6:110435962:C:CC	acceptor_gain	1.0000
6:110425083:CAA:C	acceptor_gain	0.9900
6:110425086:C:CC	acceptor_gain	0.9900
6:110431166:CACA:C	donor_loss	0.9900
6:110431167:ACAC:A	donor_loss	0.9900
6:110431169:ACC:A	donor_loss	0.9900
6:110431170:C:A	donor_loss	0.9900
6:110431267:CGAT:C	acceptor_gain	0.9900
6:110431268:GAT:G	acceptor_gain	0.9900
6:110431269:AT:A	acceptor_gain	0.9900
6:110431270:TCTGG:T	acceptor_loss	0.9900
6:110431271:C:CC	acceptor_gain	0.9900
6:110431271:C:T	acceptor_loss	0.9900
6:110434287:C:A	donor_gain	0.9900
6:110435960:TT:T	acceptor_gain	0.9900
6:110435960:TTC:T	acceptor_loss	0.9900
6:110435961:TC:T	acceptor_loss	0.9900
6:110435962:CT:C	acceptor_loss	0.9900
6:110438715:CTCA:C	donor_loss	0.9900
6:110438716:TCAC:T	donor_loss	0.9900
6:110438717:CACC:C	donor_loss	0.9900
6:110438718:A:AC	donor_gain	0.9900
6:110438718:A:T	donor_loss	0.9900

AlphaMissense

3768 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:110431252:G:C	S480R	0.997
6:110431252:G:T	S480R	0.997
6:110431254:T:G	S480R	0.997
6:110431262:G:T	A477D	0.995
6:110435870:A:G	L468P	0.995
6:110442340:A:G	W363R	0.995
6:110442340:A:T	W363R	0.995
6:110446957:G:C	S189R	0.995
6:110446957:G:T	S189R	0.995
6:110446959:T:G	S189R	0.995
6:110456916:C:G	C52S	0.995
6:110456917:A:T	C52S	0.995
6:110456628:C:G	C148S	0.994
6:110456629:A:T	C148S	0.994
6:110425056:A:C	S517R	0.993
6:110425056:A:T	S517R	0.993
6:110425058:T:G	S517R	0.993
6:110456697:C:G	C125S	0.993
6:110456698:A:T	C125S	0.993
6:110431225:G:C	S489R	0.992
6:110431225:G:T	S489R	0.992
6:110431227:T:G	S489R	0.992
6:110431251:C:G	G481R	0.992
6:110442331:A:G	W366R	0.992
6:110442331:A:T	W366R	0.992
6:110456568:C:T	G168E	0.992
6:110456783:C:A	W96C	0.992
6:110456783:C:G	W96C	0.992
6:110456916:C:T	C52Y	0.992
6:110431246:G:C	S482R	0.991

dbSNP variants (sampled 300 via entrez): RS1000033384 (6:110475743 C>G), RS1000260531 (6:110428379 A>C), RS1000260891 (6:110470030 C>T), RS1000294441 (6:110449900 C>G,T), RS1000312653 (6:110443291 G>A,T), RS1000469367 (6:110450381 G>A), RS1000522696 (6:110450836 G>A,T), RS1000566726 (6:110458070 C>T), RS1000607174 (6:110457507 G>A), RS1000648768 (6:110445089 T>C,G), RS1000729467 (6:110444471 T>C,G), RS1000839717 (6:110438598 T>A), RS1000878814 (6:110443671 C>T), RS1000973964 (6:110474826 T>C,G), RS1001008467 (6:110426951 A>T)

Disease associations

OMIM: gene MIM:608276 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST002726_1	Glucose homeostasis traits	3.000000e-06
GCST002934_7	Zinc levels	1.000000e-06
GCST003518_86	Daytime sleep phenotypes	3.000000e-07
GCST004611_64	High light scatter reticulocyte count	1.000000e-14
GCST004612_25	High light scatter reticulocyte percentage of red cells	4.000000e-17
GCST004619_19	Reticulocyte fraction of red cells	8.000000e-17
GCST004622_196	Reticulocyte count	2.000000e-13
GCST004628_85	Immature fraction of reticulocytes	1.000000e-09
GCST005648_1	Serum metabolite concentrations in chronic kidney disease	3.000000e-11
GCST006411_1	Mucinous adenocarcinoma in colorectal cancer	1.000000e-06
GCST006879_15	Blood metabolite levels	6.000000e-25
GCST006879_16	Blood metabolite levels	5.000000e-08
GCST006879_17	Blood metabolite levels	2.000000e-26
GCST006879_23	Blood metabolite levels	7.000000e-31
GCST006879_24	Blood metabolite levels	3.000000e-25
GCST006879_3	Blood metabolite levels	8.000000e-29
GCST006879_4	Blood metabolite levels	7.000000e-37
GCST012020_122	Serum metabolite levels	2.000000e-27
GCST012020_123	Serum metabolite levels	8.000000e-13
GCST90002385_567	High light scatter reticulocyte count	4.000000e-41
GCST90002386_109	High light scatter reticulocyte percentage of red cells	2.000000e-47
GCST90002387_287	Immature fraction of reticulocytes	7.000000e-24
GCST90002404_269	Red cell distribution width	7.000000e-17
GCST90002405_203	Reticulocyte count	2.000000e-34
GCST90002406_223	Reticulocyte fraction of red cells	5.000000e-42

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0006830	insulin metabolic clearance rate measurement
EFO:0007828	daytime rest measurement
EFO:0007986	reticulocyte count
EFO:0009361	colorectal mucinous adenocarcinoma
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2073722 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

5 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs12210538	Toxicity	3	cyclophosphamide;doxorubicin	Breast Neoplasms
rs6907567	Efficacy,Toxicity	3	cyclophosphamide;doxorubicin;fluorouracil	Breast Neoplasms
rs714368	Other	3	doxorubicin;doxorubicinol	Breast Neoplasms
rs714368	Efficacy,Toxicity	3	cyclophosphamide;doxorubicin;fluorouracil	Breast Neoplasms
rs723685	Dosage	3	cyclophosphamide;doxorubicin

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs714368	SLC22A16	3	4.25	2	cyclophosphamide;doxorubicin;fluorouracil;doxorubicin;doxorubicinol
rs723685	SLC22A16	3	2.00	1	cyclophosphamide;doxorubicin
rs6907567	SLC22A16	3	4.25	1	cyclophosphamide;doxorubicin;fluorouracil
rs12210538	SLC22A16	3	1.75	1	cyclophosphamide;doxorubicin

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — Organic zwitterions/cation transporters (OCTN)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, decreases expression	2
N(1)-methylnicotinamide	decreases reaction, increases uptake	1
vanadyl sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
(+)-JQ1 compound	decreases expression	1
Daunorubicin	decreases reaction, increases uptake	1
Dopamine	decreases reaction, increases uptake	1
Doxorubicin	decreases reaction, increases uptake, decreases activity, decreases response to substance	1
Folic Acid	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Lidocaine	decreases reaction, increases uptake	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Procainamide	decreases reaction, increases uptake	1
Serotonin	decreases reaction, increases uptake	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	affects cotreatment, increases expression	1
Tetraethylammonium	decreases activity, decreases response to substance, decreases reaction, increases uptake	1
Guanidine	decreases reaction, increases uptake	1

ChEMBL screening assays

4 unique, capped per target: 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2076430	Functional	TP_TRANSPORTER: uptake 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

Clinical trials (associated diseases)

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