SLC1A7

Summary

SLC1A7 (solute carrier family 1 member 7, HGNC:10945) is a protein-coding gene on chromosome 1p32.3, encoding Excitatory amino acid transporter 5 (O00341). Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate.

Enables glutamate:sodium symporter activity. Involved in neurotransmitter uptake. Predicted to be located in photoreceptor cell terminal bouton. Predicted to be active in glutamatergic synapse; postsynaptic membrane; and presynaptic membrane.

Source: NCBI Gene 6512 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 129 total
• MANE Select transcript: NM_006671

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10945
Approved symbol	SLC1A7
Name	solute carrier family 1 member 7
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Aliases	EAAT5
Ensembl gene	ENSG00000162383
Ensembl biotype	protein_coding
OMIM	604471
Entrez	6512

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000371491, ENST00000371494, ENST00000488036, ENST00000611397, ENST00000620288, ENST00000620347, ENST00000649098

RefSeq mRNA: 4 — MANE Select: NM_006671 NM_001287595, NM_001287596, NM_001287597, NM_006671

CCDS: CCDS574, CCDS72796, CCDS72797, CCDS72798

Canonical transcript exons

ENST00000371494 — 11 exons

Exon	Start	End
ENSE00000000054	53142315	53142638
ENSE00001030953	53092554	53092787
ENSE00001129424	53089800	53089934
ENSE00001129428	53090612	53090806
ENSE00001129439	53093461	53093560
ENSE00001129442	53103346	53103568
ENSE00001129456	53114758	53114973
ENSE00001129459	53134350	53134429
ENSE00001455355	53087183	53088227
ENSE00001763774	53105732	53105774
ENSE00003609774	53088877	53088979

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 82.51.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0211 / max 248.3710, expressed in 183 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12391	0.4181	126
12396	0.2175	14
12395	0.1490	9
12389	0.1370	62
12390	0.0435	19
12388	0.0342	13
12394	0.0157	1
12392	0.0039	1
12393	0.0024	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	82.51	gold quality
granulocyte	CL:0000094	80.77	gold quality
jejunal mucosa	UBERON:0000399	80.58	gold quality
right ovary	UBERON:0002118	79.89	gold quality
gall bladder	UBERON:0002110	79.18	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.02	gold quality
tibial nerve	UBERON:0001323	77.87	gold quality
omental fat pad	UBERON:0010414	77.41	gold quality
peritoneum	UBERON:0002358	77.35	gold quality
left ovary	UBERON:0002119	77.27	gold quality
adipose tissue of abdominal region	UBERON:0007808	76.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.41	gold quality
lower esophagus muscularis layer	UBERON:0035833	75.35	gold quality
lower esophagus	UBERON:0013473	75.27	gold quality
right coronary artery	UBERON:0001625	74.99	gold quality
left uterine tube	UBERON:0001303	74.84	gold quality
apex of heart	UBERON:0002098	74.42	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	73.73	gold quality
muscle layer of sigmoid colon	UBERON:0035805	73.61	gold quality
duodenum	UBERON:0002114	73.33	gold quality
mucosa of transverse colon	UBERON:0004991	72.34	gold quality
ovary	UBERON:0000992	72.15	gold quality
left coronary artery	UBERON:0001626	72.02	gold quality
right atrium auricular region	UBERON:0006631	71.92	gold quality
body of uterus	UBERON:0009853	71.76	gold quality
endocervix	UBERON:0000458	71.69	gold quality
coronary artery	UBERON:0001621	71.52	gold quality
ascending aorta	UBERON:0001496	70.97	gold quality
hindlimb stylopod muscle	UBERON:0004252	70.69	gold quality
thoracic aorta	UBERON:0001515	70.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	18.35
E-ANND-3	yes	9.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting SLC1A7, 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-548AW	99.99	72.57	3559
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-628-3P	99.04	68.37	814
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-5088-3P	98.29	66.63	1310
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-3921	97.81	67.45	1431
HSA-MIR-4653-5P	97.22	67.72	1429
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-2114-3P	95.45	66.11	579
HSA-MIR-6823-3P	95.45	66.14	704

Literature-anchored findings (GeneRIF, showing 2)

• In conclusion, the kinases SGK1 and SGK3 increase EAAT5 activity by increasing cell surface abundance of the carrier. (PMID:15737648)
• Human brain neurons express a novel splice variant of excitatory amino acid transporter 5 (hEAAT5v). (PMID:32173860)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc1a7b	ENSDARG00000026248
danio_rerio	slc1a7a	ENSDARG00000034940
mus_musculus	Slc1a7	ENSMUSG00000008932
rattus_norvegicus	Slc1a7	ENSRNOG00000011644

Paralogs (6): SLC1A3 (ENSG00000079215), SLC1A6 (ENSG00000105143), SLC1A5 (ENSG00000105281), SLC1A1 (ENSG00000106688), SLC1A2 (ENSG00000110436), SLC1A4 (ENSG00000115902)

Protein

Protein identifiers

Excitatory amino acid transporter 5 — O00341 (reviewed: O00341)

Alternative names: Retinal glutamate transporter, Solute carrier family 1 member 7

All UniProt accessions (5): A0A087WUF9, O00341, F1T0D2, F1T0D3, F1T0D4

UniProt curated annotations — full annotation on UniProt →

Function. Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Acts primarily as an inhibitory glutamate-gated chloride channel being a major inhibitory presynaptic receptor at mammalian rod bipolar cell axon terminals. Glutamate binding gates a large Cl(-) conductance that mediates inhibition, affecting visual processing in the retina.

Subunit / interactions. Interacts with the PDZ domains of DLG4.

Subcellular location. Photoreceptor inner segment membrane. Synaptic cell membrane.

Tissue specificity. Expressed primarily in retina. Detectable in liver, heart, muscle and brain.

Similarity. Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A7 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
O00341-1	1	yes
O00341-2	2

RefSeq proteins (4): NP_001274524, NP_001274525, NP_001274526, NP_006662* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001991	Na-dicarboxylate_symporter	Family
IPR018107	Na-dicarboxylate_symporter_CS	Conserved_site
IPR036458	Na:dicarbo_symporter_sf	Homologous_superfamily
IPR050746	DAACS	Family

Pfam: PF00375

Catalyzed reactions (Rhea), 3 shown:

• K(+)(in) + L-glutamate(out) + 3 Na(+)(out) + H(+)(out) = K(+)(out) + L-glutamate(in) + 3 Na(+)(in) + H(+)(in) (RHEA:70699)
• K(+)(in) + L-aspartate(out) + 3 Na(+)(out) + H(+)(out) = K(+)(out) + L-aspartate(in) + 3 Na(+)(in) + H(+)(in) (RHEA:70851)
• D-aspartate(out) + K(+)(in) + 3 Na(+)(out) + H(+)(out) = D-aspartate(in) + K(+)(out) + 3 Na(+)(in) + H(+)(in) (RHEA:71379)

UniProt features (23 total): transmembrane region 10, sequence conflict 5, topological domain 2, splice variant 2, sequence variant 2, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00341-F1	77.54	0.44

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): 191

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-210500	Glutamate Neurotransmitter Release Cycle
R-HSA-9958863	SLC-mediated transport of amino acids
R-HSA-425393

MSigDB gene sets: 0 (showing top):

GO Biological Process (11): neurotransmitter uptake (GO:0001504), monoatomic ion transport (GO:0006811), dicarboxylic acid transport (GO:0006835), neurotransmitter transport (GO:0006836), L-glutamate transmembrane transport (GO:0015813), chloride transmembrane transport (GO:1902476), neutral amino acid transport (GO:0015804), transmembrane transport (GO:0055085), excitatory postsynaptic potential (GO:0060079), import into cell (GO:0098657), L-alpha-amino acid transmembrane transport (GO:1902475)

GO Molecular Function (7): L-glutamate transmembrane transporter activity (GO:0005313), high-affinity L-glutamate transmembrane transporter activity (GO:0005314), extracellularly glutamate-gated chloride channel activity (GO:0008068), neutral L-amino acid transmembrane transporter activity (GO:0015175), glutamate:sodium symporter activity (GO:0015501), L-amino acid transmembrane transporter activity (GO:0015179), symporter activity (GO:0015293)

GO Cellular Component (5): plasma membrane (GO:0005886), synaptic membrane (GO:0097060), postsynapse (GO:0098794), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Neurotransmitter release cycle	1
SLC-mediated transmembrane transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	4
L-alpha-amino acid transmembrane transport	2
amino acid transmembrane transporter activity	2
synapse	2
cellular anatomical structure	2
neurotransmitter transport	1
import into cell	1
carboxylic acid transport	1
L-glutamate import	1
chloride transport	1
monoatomic anion transmembrane transport	1
amino acid transport	1
cellular process	1
regulation of postsynaptic membrane potential	1
chemical synaptic transmission, postsynaptic	1
amino acid transmembrane transport	1
L-amino acid transport	1
carboxylic acid transmembrane transport	1
dicarboxylic acid transmembrane transporter activity	1
acidic amino acid transmembrane transporter activity	1
L-amino acid transmembrane transporter activity	1
L-glutamate transmembrane transport	1
L-glutamate transmembrane transporter activity	1
glutamate:sodium symporter activity	1
extracellularly glutamate-gated ion channel activity	1
chloride channel activity	1
ligand-gated monoatomic anion channel activity	1
neutral amino acid transport	1
amino acid:sodium symporter activity	1
sodium:dicarboxylate symporter activity	1
carboxylic acid transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
membrane	1
cell periphery	1
plasma membrane region	1
cell junction	1

Protein interactions and networks

STRING

949 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC1A7	MCHR1	Q99705	585
SLC1A7	SLC3A2	P08195	523
SLC1A7	GLUL	P15104	483
SLC1A7	SLC17A8	Q8NDX2	463
SLC1A7	SLC7A2	P52569	450
SLC1A7	SLC17A7	Q9P2U7	447
SLC1A7	SLC7A1	P30825	442
SLC1A7	SLC7A5	Q01650	440
SLC1A7	SLC38A1	Q9H2H9	438
SLC1A7	SLC38A4	Q969I6	431
SLC1A7	SLC38A3	Q99624	418
SLC1A7	SLC7A11	Q9UPY5	417
SLC1A7	B3GALNT2	Q8NCR0	405
SLC1A7	SLC7A9	P82251	400
SLC1A7	SLC17A6	Q9P2U8	390

IntAct

121 interactions, top by confidence:

A	B	Type	Score
SLC1A7	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	FRMPD2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	SNTG2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	ERBIN	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI2	SLC1A7	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	IL16	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (10): AMFR (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ERLIN2 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), PTPRF (Affinity Capture-MS), STMN3 (Affinity Capture-MS), TRAF3 (Affinity Capture-MS), WWP1 (Affinity Capture-MS), SLC1A7 (Protein-peptide), ZNF420 (Two-hybrid)

ESM2 similar proteins: A0A2K2BF92, A0A6P3HVI0, A1L3P4, A2VDL4, A4IHB9, B9H7I1, D3ZJ25, D4A7H1, E7EXX2, F7B113, O00341, O35874, O54902, O57321, P24942, P31596, P31597, P43003, P43004, P43005, P43006, P46411, P48763, P49281, P49282, P50482, P51906, P51907, P51912, P56564, Q0D7E4, Q3ZAS0, Q4R7S2, Q4ZJI4, Q5BKR2, Q5M7K3, Q5R6B8, Q6DFC0, Q86UD5, Q8BLV3

Diamond homologs: A2RGC2, A2VDL4, D3ZJ25, O00341, O19105, O35544, O35874, O35921, O57321, O59010, P0DF78, P0DF79, P24942, P31596, P31597, P43003, P43004, P43005, P43006, P43007, P46411, P48664, P51906, P51907, P51912, P56564, Q10901, Q15758, Q1J8E1, Q1JDG4, Q1JII6, Q1JND7, Q21353, Q21751, Q22682, Q25605, Q48V75, Q4R8W8, Q5XDS5, Q8JZR4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SLC1A7	“up-regulates quantity”	“glutamic acid”	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 78 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	9	42.3×	6e-11
Neurexins and neuroligins	10	36.5×	2e-11
Protein-protein interactions at synapses	6	29.5×	2e-06
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	10	76.5×	2e-14
protein localization to synapse	6	60.5×	6e-08
receptor clustering	7	57.5×	6e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	7	45.6×	2e-08
cell-cell adhesion	10	13.4×	3e-07
protein-containing complex assembly	6	9.0×	2e-03
chemical synaptic transmission	7	7.1×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	112
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2442 predictions. Top by Δscore:

Variant	Effect	Δscore
1:53089795:CTCA:C	donor_loss	1.0000
1:53089796:TCACA:T	donor_loss	1.0000
1:53089797:CA:C	donor_loss	1.0000
1:53089798:A:AC	donor_gain	1.0000
1:53089798:ACAG:A	donor_loss	1.0000
1:53089799:C:CA	donor_gain	1.0000
1:53089799:CAG:C	donor_gain	1.0000
1:53089799:CAGA:C	donor_gain	1.0000
1:53089799:CAGAG:C	donor_gain	1.0000
1:53089935:C:CC	acceptor_gain	1.0000
1:53090608:GCAC:G	donor_loss	1.0000
1:53090609:CACC:C	donor_loss	1.0000
1:53090610:A:AC	donor_loss	1.0000
1:53090611:C:CT	donor_loss	1.0000
1:53092550:CTA:C	donor_loss	1.0000
1:53093455:GCTTA:G	donor_loss	1.0000
1:53093456:CTTAC:C	donor_loss	1.0000
1:53093457:TTA:T	donor_loss	1.0000
1:53093458:TA:T	donor_loss	1.0000
1:53093459:A:AG	donor_loss	1.0000
1:53093460:C:T	donor_loss	1.0000
1:53093460:CCA:C	donor_gain	1.0000
1:53103340:ACAT:A	donor_loss	1.0000
1:53103341:CATA:C	donor_loss	1.0000
1:53103342:ATAC:A	donor_loss	1.0000
1:53103343:TAC:T	donor_loss	1.0000
1:53103344:AC:A	donor_gain	1.0000
1:53103345:CC:C	donor_gain	1.0000
1:53103585:C:T	acceptor_gain	1.0000
1:53103589:C:CT	acceptor_gain	1.0000

AlphaMissense

3654 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:53088955:G:C	N462K	1.000
1:53088955:G:T	N462K	1.000
1:53089845:A:G	L439P	1.000
1:53089860:A:G	L434P	1.000
1:53089913:G:C	S416R	1.000
1:53089913:G:T	S416R	1.000
1:53089915:T:G	S416R	1.000
1:53089917:G:T	A415D	1.000
1:53089926:G:T	A412D	1.000
1:53089927:C:G	A412P	1.000
1:53090699:C:A	G380V	1.000
1:53090699:C:T	G380D	1.000
1:53090700:C:G	G380R	1.000
1:53090704:C:A	M378I	1.000
1:53090704:C:G	M378I	1.000
1:53090704:C:T	M378I	1.000
1:53090707:G:C	N377K	1.000
1:53090707:G:T	N377K	1.000
1:53090721:C:G	G373R	1.000
1:53088943:A:C	D466E	0.999
1:53088943:A:T	D466E	0.999
1:53088944:T:A	D466V	0.999
1:53088944:T:C	D466G	0.999
1:53088944:T:G	D466A	0.999
1:53088945:C:G	D466H	0.999
1:53088948:C:G	G465R	0.999
1:53088969:G:T	R458S	0.999
1:53088978:C:G	D455H	0.999
1:53089800:A:G	L454P	0.999
1:53089805:C:A	W452C	0.999

dbSNP variants (sampled 300 via entrez): RS1000166233 (1:53108544 G>A), RS1000228355 (1:53115874 A>C), RS1000264831 (1:53137201 C>T), RS1000328717 (1:53124243 A>G), RS1000329136 (1:53097275 C>A,T), RS1000377074 (1:53134926 G>A), RS1000390961 (1:53120843 G>A), RS1000477205 (1:53126659 C>T), RS1000668395 (1:53119955 C>T), RS1000687001 (1:53115577 A>G), RS1000687808 (1:53122567 C>T), RS1000780239 (1:53087868 C>T), RS1000844466 (1:53089065 G>A), RS1000879076 (1:53092804 A>G), RS1000929226 (1:53122962 G>A)

Disease associations

OMIM: gene MIM:604471 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000996_4	Systemic lupus erythematosus	4.000000e-06
GCST001530_5	Hippocampal atrophy	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005039	hippocampal atrophy

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 — Glutamate transporter subfamily

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
[3H]ETB-TBOA	Binding	7.6	pKd
DL-TBOA	Inhibition	5.5	pKi

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
GSK-J4	decreases expression	1
bufotalin	decreases expression	1
bisphenol A	increases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	decreases expression	1
Cannabinoids	affects methylation, increases abundance	1
Cisplatin	increases expression	1
Folic Acid	decreases expression	1
Ibuprofen	increases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, decreases expression, affects response to substance	1
Oxygen	increases expression	1
Fenofibrate	increases expression	1
Silicon Dioxide	decreases expression	1
Dronabinol	decreases expression	1
Valproic Acid	increases methylation	1
Antirheumatic Agents	increases expression	1
Magnetite Nanoparticles	increases methylation	1

Clinical trials (associated diseases)

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