SLC43A2

Summary

SLC43A2 (solute carrier family 43 member 2, HGNC:23087) is a protein-coding gene on chromosome 17p13.3, encoding Large neutral amino acids transporter small subunit 4 (Q8N370). Uniporter that mediates the transport of the stereospecific L-phenylalanine, L-methionine and L-branched-chain amino acids, between the extracellular space and the cytoplasm and may control the transepithelial (re)absorption of neutral amino acid in kidney and small intestine.

This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus.

Source: NCBI Gene 124935 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_152346

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23087
Approved symbol	SLC43A2
Name	solute carrier family 43 member 2
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC34680
Ensembl gene	ENSG00000167703
Ensembl biotype	protein_coding
OMIM	610791
Entrez	124935

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 20 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000301335, ENST00000412517, ENST00000571376, ENST00000571650, ENST00000572135, ENST00000572801, ENST00000574274, ENST00000574743, ENST00000575944, ENST00000576537, ENST00000576721, ENST00000576769, ENST00000894522, ENST00000894523, ENST00000894524, ENST00000894525, ENST00000894526, ENST00000894527, ENST00000894528, ENST00000894529, ENST00000894530, ENST00000894531, ENST00000932308, ENST00000932309, ENST00000952271, ENST00000952272, ENST00000952273, ENST00000952274, ENST00000952275

RefSeq mRNA: 5 — MANE Select: NM_152346 NM_001284498, NM_001284499, NM_001321364, NM_001321365, NM_152346

CCDS: CCDS11006, CCDS67107, CCDS67108

Canonical transcript exons

ENST00000301335 — 14 exons

Exon	Start	End
ENSE00001286861	1576597	1576720
ENSE00001286870	1578250	1578323
ENSE00001286880	1583204	1583336
ENSE00001293333	1628794	1628834
ENSE00001329914	1585913	1586051
ENSE00003460974	1591269	1591471
ENSE00003469074	1593187	1593279
ENSE00003480571	1613195	1613271
ENSE00003488015	1614979	1615034
ENSE00003530884	1590802	1590948
ENSE00003548949	1616562	1616769
ENSE00003570444	1627715	1627920
ENSE00003686356	1591566	1591699
ENSE00003704089	1569268	1575765

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 95.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.6654 / max 397.7134, expressed in 1595 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163755	12.1108	1481
163754	1.6866	727
163756	0.8203	468
163747	0.0443	23
163748	0.0035	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	95.93	gold quality
leukocyte	CL:0000738	95.89	gold quality
granulocyte	CL:0000094	93.62	gold quality
kidney epithelium	UBERON:0004819	91.78	gold quality
gastrocnemius	UBERON:0001388	91.65	gold quality
blood	UBERON:0000178	91.19	gold quality
adult mammalian kidney	UBERON:0000082	90.82	gold quality
vermiform appendix	UBERON:0001154	90.24	gold quality
muscle of leg	UBERON:0001383	90.23	gold quality
spleen	UBERON:0002106	88.57	gold quality
upper lobe of left lung	UBERON:0008952	88.07	gold quality
metanephros cortex	UBERON:0010533	87.92	gold quality
placenta	UBERON:0001987	87.78	gold quality
bone marrow cell	CL:0002092	87.61	gold quality
mucosa of stomach	UBERON:0001199	86.61	gold quality
sural nerve	UBERON:0015488	86.59	gold quality
right lung	UBERON:0002167	86.58	gold quality
islet of Langerhans	UBERON:0000006	86.45	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.45	gold quality
tibialis anterior	UBERON:0001385	86.19	silver quality
right hemisphere of cerebellum	UBERON:0014890	86.14	gold quality
cortex of kidney	UBERON:0001225	86.13	gold quality
cerebellar hemisphere	UBERON:0002245	85.88	gold quality
cerebellar cortex	UBERON:0002129	85.73	gold quality
kidney	UBERON:0002113	85.58	gold quality
right frontal lobe	UBERON:0002810	85.35	gold quality
adenohypophysis	UBERON:0002196	85.25	gold quality
skeletal muscle organ	UBERON:0014892	85.05	gold quality
prefrontal cortex	UBERON:0000451	84.92	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.69	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	36.08
E-ANND-3	yes	12.53
E-MTAB-7381	no	269.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

234 targeting SLC43A2, 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-4692	100.00	67.32	2066
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-150-5P	99.99	66.69	1976
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-520D-5P	99.98	73.34	4883
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777

Literature-anchored findings (GeneRIF, showing 3)

• In situ hybridization experiments show that LAT4 mRNA is restricted to the epithelial cells of the distal tubule and the collecting duct in the kidney. In the intestine, LAT4 is mainly present in the cells of the crypt. (PMID:15659399)
• Cancer SLC43A2 alters T cell methionine metabolism and histone methylation. (PMID:32879489)
• Plasma citrulline correlates with basolateral amino acid transporter LAT4 expression in human small intestine. (PMID:33077272)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc43a2a	ENSDARG00000036848
danio_rerio	slc43a2b	ENSDARG00000061120
mus_musculus	Slc43a2	ENSMUSG00000038178
rattus_norvegicus	Slc43a2	ENSRNOG00000003835

Paralogs (1): SLC43A1 (ENSG00000149150)

Protein

Protein identifiers

Large neutral amino acids transporter small subunit 4 — Q8N370 (reviewed: Q8N370)

Alternative names: L-type amino acid transporter 4, Solute carrier family 43 member 2

All UniProt accessions (4): Q8N370, I3L3E3, I3L4J2, I3L4V3

UniProt curated annotations — full annotation on UniProt →

Function. Uniporter that mediates the transport of the stereospecific L-phenylalanine, L-methionine and L-branched-chain amino acids, between the extracellular space and the cytoplasm and may control the transepithelial (re)absorption of neutral amino acid in kidney and small intestine. The transport activity is mediated through facilitated diffusion and is sodium ions-, chloride ions- and pH-independent.

Subcellular location. Cell membrane. Basolateral cell membrane.

Tissue specificity. Detected in several tissues with higher expression in placenta, kidney and peripheral blood leukocytes. In the kidney, is detected in epithelial cells of the distal tubule and collecting duct. In the intestine, is expressed mainly in crypt cells of the intestinal microvilli and epithelial cells in the base of the villus.

Post-translational modifications. Glycosylated. Dephosphorylation at Ser-274 and phosphorylation at Ser-297 increase affinity and amino acid transport activity. Phosphorylation-dephosphorylation cycle is regulated by food-entrained diurnal rhythm and dietary proteins.

Activity regulation. Affinity and transport activity are regulated by a phosphorylation switch state at Ser-274 and Ser-297; increasing of affinity and amino acid transport activity via dephosphorylation at Ser-274 and phosphorylation at Ser-297.

Similarity. Belongs to the SLC43A transporter (TC 2.A.1.44) family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8N370-1	1	yes
Q8N370-2	2
Q8N370-3	3
Q8N370-4	4

RefSeq proteins (5): NP_001271427, NP_001271428, NP_001308293, NP_001308294, NP_689559* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011701	MFS	Family
IPR036259	MFS_trans_sf	Homologous_superfamily

Pfam: PF07690

Catalyzed reactions (Rhea), 4 shown:

• L-phenylalanine(in) = L-phenylalanine(out) (RHEA:27950)
• L-methionine(in) = L-methionine(out) (RHEA:70939)
• L-isoleucine(in) = L-isoleucine(out) (RHEA:70943)
• L-leucine(in) = L-leucine(out) (RHEA:73011)

UniProt features (33 total): transmembrane region 12, mutagenesis site 6, splice variant 5, modified residue 3, glycosylation site 3, sequence conflict 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9JBS	ELECTRON MICROSCOPY	2.88
9JBT	ELECTRON MICROSCOPY	3.2
9JBU	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N370-F1	78.98	0.50

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 (3): 274, 278, 297

Glycosylation sites (3): 55, 58, 560

Mutagenesis-validated functional residues (6):

Position	Phenotype
274	increases affinity for phenylalanine. increases phenylalanine transport activity. strongly decreases glycosylation. stro
274	slightly decreases phenylalanine transport. does not affect membrane localization.
278	increases affinity for phenylalanine.
278	slightly decreases phenylalanine transport.
297	abolishes sensitivity to n-ethymaleimide. severely decreases phenylalanine transport activity. decreases affinity for ph
297	slightly decreases phenylalanine transport. does not affect membrane localization.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-352230	Amino acid transport across the plasma membrane
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 211 (showing top): GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, AAGCAAT_MIR137, GOBP_REGULATION_OF_ORGANIC_ACID_TRANSPORT, RACCACAR_AML_Q6, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GGGTGGRR_PAX4_03, GOBP_ORGANIC_ACID_TRANSPORT, EVI1_05, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_AMINE_TRANSPORT, TGCTGAY_UNKNOWN, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, LYF1_01

GO Biological Process (12): amino acid transport (GO:0006865), neutral amino acid transport (GO:0015804), isoleucine transport (GO:0015818), L-leucine transport (GO:0015820), methionine transport (GO:0015821), phenylalanine transport (GO:0015823), negative regulation of amino acid transport (GO:0051956), negative regulation of L-leucine import across plasma membrane (GO:1905533), amino acid transmembrane transport (GO:0003333), L-amino acid transport (GO:0015807), transmembrane transport (GO:0055085), L-alpha-amino acid transmembrane transport (GO:1902475)

GO Molecular Function (9): amino acid transmembrane transporter activity (GO:0015171), neutral L-amino acid transmembrane transporter activity (GO:0015175), L-amino acid transmembrane transporter activity (GO:0015179), L-isoleucine transmembrane transporter activity (GO:0015188), L-leucine transmembrane transporter activity (GO:0015190), L-methionine transmembrane transporter activity (GO:0015191), L-phenylalanine transmembrane transporter activity (GO:0015192), 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-2 pathways:

Category	Pathways
SLC-mediated transport of amino acids	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
amino acid transport	5
L-amino acid transmembrane transporter activity	4
neutral amino acid transport	3
transport	2
branched-chain amino acid transport	2
L-amino acid transport	2
carboxylic acid transport	2
nitrogen compound transport	2
transmembrane transport	2
amino acid transmembrane transport	2
amino acid transmembrane transporter activity	2
neutral L-amino acid transmembrane transporter activity	2
branched-chain amino acid transmembrane transporter activity	2
sulfur amino acid transport	1
negative regulation of amine transport	1
regulation of amino acid transport	1
negative regulation of organic acid transport	1
negative regulation of transmembrane transport	1
negative regulation of amino acid transport	1
L-leucine import across plasma membrane	1
regulation of L-leucine import across plasma membrane	1
cellular process	1
carboxylic acid transmembrane transport	1
transmembrane transporter activity	1
carboxylic acid transmembrane transporter activity	1
L-alpha-amino acid transmembrane transport	1
methionine transmembrane transporter activity	1
aromatic amino acid transmembrane transporter activity	1
phenylalanine 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

772 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC43A2	SLC7A6	Q92536	808
SLC43A2	SLC7A8	Q9UHI5	806
SLC43A2	SLC7A5	Q01650	794
SLC43A2	SLC3A2	P08195	777
SLC43A2	SLC7A7	Q9UM01	645
SLC43A2	SLC7A1	P30825	643
SLC43A2	SLC38A2	Q96QD8	641
SLC43A2	SLC38A1	Q9H2H9	605
SLC43A2	SLC6A19	Q695T7	604
SLC43A2	SLC1A4	P43007	603
SLC43A2	SLC1A1	P43005	570
SLC43A2	SLC3A1	Q07837	557
SLC43A2	SLC1A5	Q15758	557
SLC43A2	SLC16A10	Q8TF71	556
SLC43A2	SLC38A7	Q9NVC3	532

IntAct

27 interactions, top by confidence:

A	B	Type	Score
SLC43A2		psi-mi:“MI:0915”(physical association)	0.560
	SLC43A2	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	SLC43A2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-3	SLC43A2	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	SLC43A2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-1	SLC43A2	psi-mi:“MI:0915”(physical association)	0.560
SLC43A2	KRT35	psi-mi:“MI:0915”(physical association)	0.560
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC43A2	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
SLC43A2	HRH1	psi-mi:“MI:0915”(physical association)	0.370
CACNA1C	IGLL5	psi-mi:“MI:0914”(association)	0.350
CACNA1C	CACNB4	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
SLC43A2	PIK3R2	psi-mi:“MI:0914”(association)	0.350
SLC43A2	CYSRT1	psi-mi:“MI:0915”(physical association)	0.000
SLC43A2	KRTAP1-3	psi-mi:“MI:0915”(physical association)	0.000
SLC43A2	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
SLC43A2	KRT35	psi-mi:“MI:0915”(physical association)	0.000
SLC43A2	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (64): KRTAP10-3 (Two-hybrid), SLC43A2 (Affinity Capture-MS), SLC43A2 (Affinity Capture-RNA), KRTAP1-1 (Two-hybrid), KRT35 (Two-hybrid), CYSRT1 (Two-hybrid), KRTAP1-3 (Two-hybrid), NOTCH2NL (Two-hybrid), NBPF19 (Two-hybrid), SLC43A2 (Two-hybrid), SLC43A2 (Two-hybrid), SLC43A2 (Affinity Capture-RNA), SLC43A2 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A125YQS6, A0A125YY03, A0A7J6K338, A1Z7R6, A4IHK6, A5K9W3, G4SDH4, J9UD11, O43306, O60266, O75387, O76269, O76343, P14773, P30804, P48768, Q01341, Q03343, Q04400, Q0C8L9, Q0VCM6, Q41706, Q4D3E8, Q4X251, Q57VW6, Q5B0V6, Q5BKX6, Q5RF58, Q5ZMT9, Q6C520, Q6CGU8, Q7Z8U2, Q8BIV7, Q8BSM7, Q8CGA3, Q8K4S3, Q8K596, Q8N370, Q93380, Q93Z75

Diamond homologs: A4IHK6, O75387, Q0VCM6, Q5RF58, Q8BSM7, Q8CGA3, Q8N370, Q8NBI5, A2AVZ9, Q04991, Q1JPD8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3123 predictions. Top by Δscore:

Variant	Effect	Δscore
17:1575617:T:TA	donor_gain	1.0000
17:1576591:TCTTA:T	donor_loss	1.0000
17:1576592:CTTA:C	donor_loss	1.0000
17:1576593:TTA:T	donor_loss	1.0000
17:1576595:AC:A	donor_gain	1.0000
17:1576596:C:CG	donor_loss	1.0000
17:1576596:CC:C	donor_gain	1.0000
17:1576596:CCCA:C	donor_gain	1.0000
17:1578248:A:AC	donor_gain	1.0000
17:1578249:C:CC	donor_gain	1.0000
17:1578249:CA:C	donor_gain	1.0000
17:1578249:CACGG:C	donor_gain	1.0000
17:1578324:C:CA	acceptor_loss	1.0000
17:1578324:C:CC	acceptor_gain	1.0000
17:1578325:T:A	acceptor_loss	1.0000
17:1585907:A:AC	donor_gain	1.0000
17:1585908:C:CC	donor_gain	1.0000
17:1585908:CG:C	donor_gain	1.0000
17:1585908:CGCA:C	donor_gain	1.0000
17:1585909:GCAC:G	donor_loss	1.0000
17:1585910:CACT:C	donor_loss	1.0000
17:1585911:A:AC	donor_gain	1.0000
17:1585911:AC:A	donor_loss	1.0000
17:1585912:C:CA	donor_gain	1.0000
17:1585912:CT:C	donor_gain	1.0000
17:1585912:CTG:C	donor_gain	1.0000
17:1585912:CTGG:C	donor_gain	1.0000
17:1586048:CCAA:C	acceptor_gain	1.0000
17:1586049:CAA:C	acceptor_gain	1.0000
17:1586049:CAAC:C	acceptor_gain	1.0000

AlphaMissense

3711 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:1576688:C:T	G486E	1.000
17:1576689:C:G	G486R	1.000
17:1576689:C:T	G486R	1.000
17:1585985:C:T	G382D	1.000
17:1585986:C:G	G382R	1.000
17:1591414:G:C	F262L	1.000
17:1591414:G:T	F262L	1.000
17:1591416:A:G	F262L	1.000
17:1593227:C:T	G185E	1.000
17:1593265:G:C	F172L	1.000
17:1593265:G:T	F172L	1.000
17:1593267:A:G	F172L	1.000
17:1616611:C:G	G107R	1.000
17:1616630:A:C	S100R	1.000
17:1616630:A:T	S100R	1.000
17:1616632:T:G	S100R	1.000
17:1627778:A:G	W33R	1.000
17:1627778:A:T	W33R	1.000
17:1627781:C:G	G32R	1.000
17:1576667:G:T	A493E	0.999
17:1576669:G:C	S492R	0.999
17:1576669:G:T	S492R	0.999
17:1576671:T:G	S492R	0.999
17:1576694:A:G	L484P	0.999
17:1576700:C:T	G482D	0.999
17:1576701:C:G	G482R	0.999
17:1576702:G:C	F481L	0.999
17:1576702:G:T	F481L	0.999
17:1576703:A:C	F481C	0.999
17:1576704:A:G	F481L	0.999

dbSNP variants (sampled 300 via entrez): RS1000094947 (17:1571484 C>T), RS1000150770 (17:1610013 G>A,T), RS1000200876 (17:1605816 C>T), RS1000246095 (17:1609560 C>T), RS1000320136 (17:1576449 C>T), RS1000336107 (17:1581914 T>C), RS1000357452 (17:1614716 G>C), RS1000363714 (17:1607684 G>T), RS1000415921 (17:1619572 G>A,T), RS1000451976 (17:1581786 A>C), RS1000487195 (17:1608683 C>T), RS1000518075 (17:1608933 C>T), RS1000565844 (17:1576590 C>A,G,T), RS1000590582 (17:1613702 G>A), RS1000595621 (17:1602706 A>G,T)

Disease associations

OMIM: gene MIM:610791 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST008161_46	Waist circumference adjusted for body mass index	4.000000e-06
GCST90000025_115	Appendicular lean mass	4.000000e-11
GCST90002395_235	Mean platelet volume	9.000000e-14
GCST90002400_196	Plateletcrit	2.000000e-12
GCST90002405_401	Reticulocyte count	2.000000e-09
GCST90002406_448	Reticulocyte fraction of red cells	9.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass
EFO:0007985	platelet crit
EFO:0007986	reticulocyte count

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 — SLC43 family of large neutral amino acid transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression, affects cotreatment	3
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
Cisplatin	increases expression, affects cotreatment	2
Diethylhexyl Phthalate	increases abundance, increases methylation, increases expression	2
Estradiol	decreases expression	2
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases methylation	2
Aflatoxin B1	decreases methylation, increases expression	2
Cadmium Chloride	increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
allyl 2,4,6-tribromophenyl ether	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
butyraldehyde	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
aflatoxin B2	increases methylation	1
cupric chloride	decreases expression	1
benazol P	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
ICG 001	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4P2	HCT116-SLC43A2-KO-c7	Cancer cell line	Male
CVCL_D4P3	HCT116-SLC43A2-KO-c9	Cancer cell line	Male
CVCL_TN71	HAP1 SLC43A2 (-) 1	Cancer cell line	Male
CVCL_TN72	HAP1 SLC43A2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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