SLC38A4

Summary

SLC38A4 (solute carrier family 38 member 4, HGNC:14679) is a protein-coding gene on chromosome 12q13.11, encoding Sodium-coupled neutral amino acid transporter 4 (Q969I6). Symporter that cotransports neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane.

SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).

Source: NCBI Gene 55089 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_018018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14679
Approved symbol	SLC38A4
Name	solute carrier family 38 member 4
Location	12q13.11
Locus type	gene with protein product
Status	Approved
Aliases	PAAT, NAT3, ATA3, SNAT4
Ensembl gene	ENSG00000139209
Ensembl biotype	protein_coding
OMIM	608065
Entrez	55089

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 37 protein_coding

ENST00000266579, ENST00000447411, ENST00000546940, ENST00000547477, ENST00000550670, ENST00000875489, ENST00000875490, ENST00000875491, ENST00000875492, ENST00000875493, ENST00000875494, ENST00000875495, ENST00000875496, ENST00000875497, ENST00000875498, ENST00000875499, ENST00000875500, ENST00000875501, ENST00000875502, ENST00000875503, ENST00000875504, ENST00000875505, ENST00000875506, ENST00000875507, ENST00000875508, ENST00000875509, ENST00000875510, ENST00000875511, ENST00000875512, ENST00000875513, ENST00000875514, ENST00000875515, ENST00000875516, ENST00000875517, ENST00000875518, ENST00000933683, ENST00000933684

RefSeq mRNA: 2 — MANE Select: NM_018018 NM_001143824, NM_018018

CCDS: CCDS8750

Canonical transcript exons

ENST00000266579 — 17 exons

Exon	Start	End
ENSE00000937066	46788528	46788618
ENSE00000937067	46787916	46788031
ENSE00000937068	46785104	46785177
ENSE00001005836	46776904	46777004
ENSE00001005837	46778289	46778368
ENSE00001005838	46768310	46768407
ENSE00001005839	46769284	46769428
ENSE00001005840	46775049	46775173
ENSE00001100146	46778501	46778776
ENSE00001271839	46764761	46766802
ENSE00001271850	46792953	46793183
ENSE00001343616	46803603	46803794
ENSE00001343639	46825903	46825997
ENSE00001678820	46779611	46779669
ENSE00001687989	46784542	46784634
ENSE00003785613	46779780	46779862
ENSE00003789215	46779949	46780030

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 98.03.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5246 / max 686.4120, expressed in 373 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130636	1.0083	16
130638	0.9135	343
130637	0.3671	15
130641	0.1043	28
130639	0.0840	11
130640	0.0474	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.03	gold quality
liver	UBERON:0002107	97.97	gold quality
islet of Langerhans	UBERON:0000006	91.11	gold quality
mucosa of transverse colon	UBERON:0004991	84.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.48	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	82.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.49	gold quality
pancreas	UBERON:0001264	79.46	gold quality
gastrocnemius	UBERON:0001388	78.72	gold quality
muscle of leg	UBERON:0001383	78.54	gold quality
tibia	UBERON:0000979	76.62	gold quality
body of pancreas	UBERON:0001150	76.14	gold quality
skeletal muscle organ	UBERON:0014892	76.02	gold quality
muscle organ	UBERON:0001630	76.00	gold quality
stromal cell of endometrium	CL:0002255	75.21	gold quality
skeletal muscle tissue	UBERON:0001134	71.32	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	70.06	gold quality
biceps brachii	UBERON:0001507	69.05	silver quality
muscle tissue	UBERON:0002385	68.77	gold quality
smooth muscle tissue	UBERON:0001135	67.82	gold quality
vastus lateralis	UBERON:0001379	67.74	silver quality
quadriceps femoris	UBERON:0001377	67.32	gold quality
adrenal tissue	UBERON:0018303	67.14	gold quality
deltoid	UBERON:0001476	66.69	silver quality
transverse colon	UBERON:0001157	66.61	gold quality
metanephros cortex	UBERON:0010533	65.41	gold quality
popliteal artery	UBERON:0002250	65.13	gold quality
tibial artery	UBERON:0007610	65.11	gold quality
adult mammalian kidney	UBERON:0000082	64.61	gold quality
calcaneal tendon	UBERON:0003701	64.42	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-81608	yes	586.71
E-GEOD-83139	yes	512.96
E-ENAD-27	yes	459.50
E-MTAB-5061	yes	199.43
E-ANND-3	no	4.73

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP63

miRNA regulators (miRDB)

93 targeting SLC38A4, 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-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-5003-3P	99.85	69.29	2517

Literature-anchored findings (GeneRIF, showing 10)

• evidence of SNAT4 mRNA and protein expression in the human placenta, both at the first trimester and at full term (PMID:16148032)
• Report SNAT4 activity in fetal T lymphocytes in intrauterine growth restriction and with tumor necrosis factor-alpha treatment. (PMID:18703994)
• the contribution of SNAT4 to system A-mediated placental microvillous transport decreases between first trimester and term (PMID:19015196)
• Membrane topological structure of neutral system N/A amino acid transporter 4 (SNAT4) protein (PMID:21917917)
• Our results suggest that mutant allele A for SNP 1304 G>A of SLC38A4 gene is associated with hyperglycaemia. (PMID:22945694)
• PAAT is a novel ATPase and a trans-regulator of mitochondrial ABC transporters that plays an important role in the maintenance of mitochondrial homeostasis (PMID:25063848)
• three SNPs (corepressor interacting with RBPJ 1 (CIR1) rs13009079T>C, ribonucleotide reductase M1 (RRM1) rs1465952T>C and solute carrier family 38, member 4 (SLC38A4) rs2429467C>T), may play a role in the pathogenesis of lung cancer (PMID:27587543)
• SLC38A4 functions as a tumour suppressor in hepatocellular carcinoma through modulating Wnt/beta-catenin/MYC/HMGCS2 axis. (PMID:34274945)
• SLC38A4 Amino Acid Transporter Expression Is Significantly Lower in Early Preterm Intrauterine Growth Restriction Complicated Placentas. (PMID:36613847)
• Platelets Affect the Activity of Amino Acid Transporter SNAT4 in HuH-7 Human Hepatoma Cells. (PMID:38508745)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc38a4	ENSDARG00000018149
mus_musculus	Slc38a4	ENSMUSG00000022464
rattus_norvegicus	Slc38a4	ENSRNOG00000006653
drosophila_melanogaster	CG16700	FBGN0030816
drosophila_melanogaster	CG4991	FBGN0030817
drosophila_melanogaster	polyph	FBGN0033572
drosophila_melanogaster	acs	FBGN0035300
drosophila_melanogaster	CG7888	FBGN0036116
drosophila_melanogaster	CG32079	FBGN0052079
drosophila_melanogaster	CG32081	FBGN0052081
caenorhabditis_elegans	slc-36.4	WBGENE00010421
caenorhabditis_elegans	Y18D10A.23	WBGENE00012487
caenorhabditis_elegans		WBGENE00012629
caenorhabditis_elegans		WBGENE00012804
caenorhabditis_elegans		WBGENE00019837
caenorhabditis_elegans		WBGENE00020837

Paralogs (15): SLC38A5 (ENSG00000017483), SLC32A1 (ENSG00000101438), SLC38A7 (ENSG00000103042), SLC38A1 (ENSG00000111371), SLC36A1 (ENSG00000123643), SLC38A2 (ENSG00000134294), SLC38A6 (ENSG00000139974), SLC38A10 (ENSG00000157637), SLC38A8 (ENSG00000166558), SLC38A11 (ENSG00000169507), SLC38A9 (ENSG00000177058), SLC36A4 (ENSG00000180773), SLC36A3 (ENSG00000186334), SLC36A2 (ENSG00000186335), SLC38A3 (ENSG00000188338)

Protein

Protein identifiers

Sodium-coupled neutral amino acid transporter 4 — Q969I6 (reviewed: Q969I6)

Alternative names: Amino acid transporter A3, Na(+)-coupled neutral amino acid transporter 4, Solute carrier family 38 member 4, System A amino acid transporter 3, System N amino acid transporter 3

All UniProt accessions (4): Q969I6, F8VQY9, F8VRD9, H0YHZ8

UniProt curated annotations — full annotation on UniProt →

Function. Symporter that cotransports neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane. The transport is electrogenic, pH dependent and partially tolerates substitution of Na(+) by Li(+). Preferentially transports smaller amino acids, such as glycine, L-alanine, L-serine, L-asparagine and L-threonine, followed by L-cysteine, L-histidine, L-proline and L-glutamine and L-methionine.

Subcellular location. Cell membrane. Cell projection. Microvillus membrane.

Tissue specificity. Expressed almost exclusively in embryonic and adult liver, and at lower levels in the kidney. Expressed at lower levels in adult muscle and pancreas. Detected in fetal blood vessels. Expressed in syncytiotrophoblas of placenta during first trimester and at term. Highly expressed in first trimester placenta compared to term placenta.

Post-translational modifications. The disulfide bond plays an important role in substrate transport, but has no effect on trafficking to the cell surface.

Similarity. Belongs to the amino acid/polyamine transporter 2 family.

RefSeq proteins (2): NP_001137296, NP_060488* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013057	AA_transpt_TM	Domain

Pfam: PF01490

Catalyzed reactions (Rhea), 10 shown:

• L-proline(in) + Na(+)(in) = L-proline(out) + Na(+)(out) (RHEA:28967)
• L-alanine(in) + Na(+)(in) = L-alanine(out) + Na(+)(out) (RHEA:29283)
• L-serine(in) + Na(+)(in) = L-serine(out) + Na(+)(out) (RHEA:29575)
• glycine(in) + Na(+)(in) = glycine(out) + Na(+)(out) (RHEA:68228)
• L-cysteine(in) + Na(+)(in) = L-cysteine(out) + Na(+)(out) (RHEA:68232)
• L-glutamine(in) + Na(+)(in) = L-glutamine(out) + Na(+)(out) (RHEA:68236)
• L-methionine(in) + Na(+)(in) = L-methionine(out) + Na(+)(out) (RHEA:68240)
• L-threonine(in) + Na(+)(in) = L-threonine(out) + Na(+)(out) (RHEA:69999)
• L-asparagine(in) + Na(+)(in) = L-asparagine(out) + Na(+)(out) (RHEA:71383)
• L-histidine(in) + Na(+)(in) = L-histidine(out) + Na(+)(out) (RHEA:71583)

UniProt features (32 total): topological domain 11, transmembrane region 10, glycosylation site 3, sequence variant 3, chain 1, region of interest 1, site 1, modified residue 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969I6-F1	75.66	0.45

Functional residue map

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

Catalytic / active sites (1): 232 (influences on amino acid transport capacity)

Post-translational modifications (1): 49

Disulfide bonds (1): 249–321

Glycosylation sites (3): 260, 264, 276

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: 177 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, PAL_PRMT5_TARGETS_UP, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_AMINO_ACID_TRANSPORT, CAIRO_HEPATOBLASTOMA_DN, GOBP_BASIC_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, CREB_Q3, GOBP_ORGANIC_CATION_TRANSPORT, CUI_TCF21_TARGETS_2_DN

GO Biological Process (9): amino acid transmembrane transport (GO:0003333), amino acid transport (GO:0006865), neutral amino acid transport (GO:0015804), L-alanine import across plasma membrane (GO:1904273), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), sodium ion transmembrane transport (GO:0035725), L-arginine transmembrane transport (GO:1903826), L-alanine transmembrane transport (GO:1904557)

GO Molecular Function (8): amino acid:sodium symporter activity (GO:0005283), neutral L-amino acid:sodium symporter activity (GO:0005295), amino acid transmembrane transporter activity (GO:0015171), L-amino acid transmembrane transporter activity (GO:0015179), alanine:sodium symporter activity (GO:0015655), L-arginine transmembrane transporter activity (GO:0061459), protein binding (GO:0005515), symporter activity (GO:0015293)

GO Cellular Component (4): plasma membrane (GO:0005886), microvillus membrane (GO:0031528), membrane (GO:0016020), cell projection (GO:0042995)

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
L-alpha-amino acid transmembrane transport	3
amino acid transport	2
transport	2
amino acid:sodium symporter activity	2
cellular anatomical structure	2
transmembrane transport	1
amino acid import across plasma membrane	1
L-alanine transmembrane transport	1
metal ion transport	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
basic amino acid transmembrane transport	1
L-alanine transport	1
amino acid:monoatomic cation symporter activity	1
solute:sodium symporter activity	1
neutral L-amino acid transmembrane transporter activity	1
amino acid transmembrane transport	1
transmembrane transporter activity	1
amino acid transmembrane transporter activity	1
carboxylic acid transmembrane transporter activity	1
organic acid:sodium symporter activity	1
alanine transmembrane transporter activity	1
basic amino acid transmembrane transporter activity	1
L-amino acid transmembrane transporter activity	1
L-arginine transmembrane transport	1
binding	1
secondary active transmembrane transporter activity	1
membrane	1
cell periphery	1
microvillus	1
cell projection membrane	1

Protein interactions and networks

STRING

1121 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC38A4	SCN11A	Q9UI33	825
SLC38A4	SFMBT2	Q5VUG0	717
SLC38A4	AANAT	Q16613	670
SLC38A4	SMOC1	Q9H4F8	606
SLC38A4	SLC7A8	Q9UHI5	606
SLC38A4	SLC7A1	P30825	588
SLC38A4	SLC1A4	P43007	586
SLC38A4	SLC1A5	Q15758	581
SLC38A4	SLC1A1	P43005	536
SLC38A4	NAP1L5	Q96NT1	522
SLC38A4	SLC2A3	P11169	520
SLC38A4	JADE1	Q6IE81	520
SLC38A4	ZNF445	P59923	511
SLC38A4	SLC7A6	Q92536	507
SLC38A4	SLC7A5	Q01650	494

IntAct

5 interactions, top by confidence:

A	B	Type	Score
GJA8	SLC38A4	psi-mi:“MI:0915”(physical association)	0.560
SLC38A4	GAPDH	psi-mi:“MI:0914”(association)	0.350
SLC38A4	GJA8	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): SLC38A4 (Protein-RNA), SLC38A4 (Two-hybrid), ATXN10 (Affinity Capture-MS), CLPTM1L (Affinity Capture-MS), GAPDH (Affinity Capture-MS), RPA3 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SLC5A12 (Affinity Capture-MS), TUBGCP4 (Affinity Capture-MS)

ESM2 similar proteins: A1YG32, A2VCW5, A2VE31, D3Z813, F4KBM7, G3UVW3, O80668, P38176, P39981, P40074, P40501, P47082, Q08AI6, Q0WQJ3, Q17598, Q19425, Q28HE5, Q28I47, Q3U1J0, Q3USY0, Q503G8, Q54S12, Q5E9S9, Q5EA97, Q5F468, Q5R443, Q5RE87, Q5SPB1, Q5XH90, Q610N4, Q6DEL1, Q6DFE7, Q6WWW3, Q8CFE6, Q8HXI3, Q8IZM9, Q8K2P7, Q8R1S9, Q8WUX1, Q969I6

Diamond homologs: A1YG32, A2VCW5, A2VE31, G3UVW3, Q28HE5, Q3U1J0, Q503G8, Q5E9S9, Q5F468, Q5R443, Q5RE87, Q5SPB1, Q5XH90, Q6WWW3, Q8CFE6, Q8IZM9, Q8K2P7, Q8R1S9, Q8WUX1, Q969I6, Q96QD8, Q99624, Q9DCP2, Q9EQ25, Q9H2H9, Q9JHE5, Q9JHZ9, Q9JM15, A6NNN8, A7E3U5, Q28I47, Q5HZH7, Q5R9F5, Q6DEL1, Q6DFE7, Q6JWR2, Q8BWH0, Q9NVC3, A8KBL5, D3Z813

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2666 predictions. Top by Δscore:

Variant	Effect	Δscore
12:46770513:AT:A	donor_gain	1.0000
12:46770519:C:A	donor_gain	1.0000
12:46775047:A:AC	donor_gain	1.0000
12:46775048:C:CA	donor_gain	1.0000
12:46776897:GACCT:G	donor_loss	1.0000
12:46776898:ACCT:A	donor_loss	1.0000
12:46776899:CCTAC:C	donor_loss	1.0000
12:46776900:CTAC:C	donor_loss	1.0000
12:46776901:TA:T	donor_loss	1.0000
12:46776902:A:AC	donor_gain	1.0000
12:46776903:C:CC	donor_gain	1.0000
12:46776903:C:G	donor_loss	1.0000
12:46777000:ACCGA:A	acceptor_gain	1.0000
12:46777001:CCGA:C	acceptor_gain	1.0000
12:46777001:CCGAC:C	acceptor_gain	1.0000
12:46777002:CGA:C	acceptor_gain	1.0000
12:46777002:CGAC:C	acceptor_gain	1.0000
12:46777003:GA:G	acceptor_gain	1.0000
12:46777005:C:CC	acceptor_gain	1.0000
12:46777005:CTGGA:C	acceptor_loss	1.0000
12:46778287:A:AC	donor_gain	1.0000
12:46778288:C:CC	donor_gain	1.0000
12:46778288:CT:C	donor_gain	1.0000
12:46778498:T:TG	donor_loss	1.0000
12:46778499:A:AC	donor_gain	1.0000
12:46778499:A:AT	donor_loss	1.0000
12:46778499:AC:A	donor_gain	1.0000
12:46778500:C:A	donor_loss	1.0000
12:46778500:C:CC	donor_gain	1.0000
12:46778500:CC:C	donor_gain	1.0000

AlphaMissense

3608 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:46778339:A:C	F341L	0.998
12:46778339:A:T	F341L	0.998
12:46778341:A:G	F341L	0.998
12:46779650:A:C	S226R	0.998
12:46779650:A:T	S226R	0.998
12:46779652:T:G	S226R	0.998
12:46780020:G:C	S168R	0.998
12:46780020:G:T	S168R	0.998
12:46780022:T:G	S168R	0.998
12:46787991:A:G	L84P	0.998
12:46775065:G:C	P428R	0.997
12:46778295:A:G	L356P	0.997
12:46785130:A:G	L125P	0.997
12:46787974:C:G	G90R	0.997
12:46775065:G:T	P428H	0.996
12:46779994:A:G	L177P	0.996
12:46787969:A:C	S91R	0.996
12:46787969:A:T	S91R	0.996
12:46787971:T:G	S91R	0.996
12:46787993:G:C	N83K	0.996
12:46787993:G:T	N83K	0.996
12:46766758:G:C	S529R	0.995
12:46766758:G:T	S529R	0.995
12:46766760:T:G	S529R	0.995
12:46768371:G:C	P494R	0.995
12:46769424:C:G	R435P	0.995
12:46787932:C:A	G104W	0.995
12:46766781:C:G	G522R	0.994
12:46766781:C:T	G522R	0.994
12:46768371:G:T	P494Q	0.994

dbSNP variants (sampled 300 via entrez): RS1000004038 (12:46797602 C>T), RS1000134561 (12:46822875 A>C), RS1000162356 (12:46771855 G>A,T), RS1000164947 (12:46817067 C>A), RS1000333634 (12:46786757 A>G), RS1000354140 (12:46829045 T>C), RS1000363080 (12:46793427 T>C), RS1000387486 (12:46791530 G>A), RS1000471635 (12:46799289 T>A,C), RS1000508862 (12:46830441 C>G,T), RS1000628033 (12:46815159 A>G), RS1000694789 (12:46808716 T>C), RS1000740435 (12:46798932 T>C), RS1000742541 (12:46764759 T>C), RS1000790988 (12:46833460 A>C)

Disease associations

OMIM: gene MIM:608065 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST007638_43	Glycine levels	7.000000e-13
GCST008363_91	Offspring birth weight	9.000000e-21
GCST008839_341	Height	6.000000e-14
GCST90013466_43	Height	1.000000e-08
GCST90013467_18	Height	1.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009767	glycine measurement
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement

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 — System A-like transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases methylation	6
sodium arsenite	decreases expression, increases expression	4
Estradiol	increases expression, decreases expression, affects expression, affects cotreatment	4
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, affects expression, increases expression	4
trichostatin A	decreases expression, increases expression, affects cotreatment	3
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	3
Cyclosporine	decreases expression	3
Aflatoxin B1	decreases methylation, affects expression, decreases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
perfluorooctane sulfonic acid	decreases expression	2
belinostat	increases expression, affects cotreatment	2
Acetaminophen	decreases expression	2
Nickel	decreases expression	2
Silicon Dioxide	decreases expression	2
dicrotophos	decreases expression	1
urushiol	decreases expression	1
testosterone enanthate	affects expression	1
methyleugenol	decreases expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
bisphenol A	increases expression	1
kojic acid	decreases expression	1
beta-lapachone	decreases expression	1
tobacco tar	decreases expression, decreases reaction	1
didecyldimethylammonium	decreases expression	1
allyl sulfide	decreases expression, decreases reaction	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	increases expression	1
chromium hexavalent ion	decreases 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, 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_D4TH	HuH7-SLC38A4-KO-c1	Cancer cell line	Male
CVCL_D4TI	HuH7-SLC38A4-KO-c2	Cancer cell line	Male

Clinical trials (associated diseases)

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