SLC6A13

Summary

SLC6A13 (solute carrier family 6 member 13, HGNC:11046) is a protein-coding gene on chromosome 12p13.33, encoding Sodium- and chloride-dependent GABA transporter 2 (Q9NSD5). Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA).

Enables gamma-aminobutyric acid:sodium:chloride symporter activity. Involved in amino acid import across plasma membrane and monocarboxylic acid transport. Located in plasma membrane.

Source: NCBI Gene 6540 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 104 total — 1 likely-pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_016615

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11046
Approved symbol	SLC6A13
Name	solute carrier family 6 member 13
Location	12p13.33
Locus type	gene with protein product
Status	Approved
Aliases	GAT2
Ensembl gene	ENSG00000010379
Ensembl biotype	protein_coding
OMIM	615097
Entrez	6540

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 6 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000343164, ENST00000436453, ENST00000445055, ENST00000534887, ENST00000536842, ENST00000539260, ENST00000539668, ENST00000542272, ENST00000542379, ENST00000542947, ENST00000543722, ENST00000546319, ENST00000902797, ENST00000965063

RefSeq mRNA: 3 — MANE Select: NM_016615 NM_001190997, NM_001243392, NM_016615

CCDS: CCDS53729, CCDS58198, CCDS8502

Canonical transcript exons

ENST00000343164 — 15 exons

Exon	Start	End
ENSE00000437567	237158	237290
ENSE00000711744	222532	222632
ENSE00001194989	221376	221546
ENSE00001528052	262789	262836
ENSE00001643181	220622	221070
ENSE00001668404	227565	227668
ENSE00003464916	242614	242754
ENSE00003468857	259851	260057
ENSE00003511308	223132	223234
ENSE00003529816	224401	224513
ENSE00003549976	237926	238010
ENSE00003604425	243679	243813
ENSE00003608701	235090	235224
ENSE00003632082	223992	224129
ENSE00003640596	226390	226514

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 99.76.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0239 / max 401.0769, expressed in 131 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128879	0.9979	124
128877	0.0260	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	99.76	gold quality
renal medulla	UBERON:0000362	98.69	gold quality
adult organism	UBERON:0007023	98.03	gold quality
endothelial cell	CL:0000115	97.30	silver quality
adult mammalian kidney	UBERON:0000082	96.30	gold quality
trigeminal ganglion	UBERON:0001675	96.20	gold quality
right lobe of liver	UBERON:0001114	95.90	gold quality
metanephros cortex	UBERON:0010533	94.54	gold quality
type B pancreatic cell	CL:0000169	92.40	gold quality
olfactory bulb	UBERON:0002264	92.30	silver quality
kidney	UBERON:0002113	92.12	gold quality
right uterine tube	UBERON:0001302	91.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.36	gold quality
liver	UBERON:0002107	84.96	gold quality
cortex of kidney	UBERON:0001225	84.85	gold quality
medial globus pallidus	UBERON:0002477	84.62	gold quality
right frontal lobe	UBERON:0002810	84.34	gold quality
putamen	UBERON:0001874	83.90	gold quality
cingulate cortex	UBERON:0003027	82.76	gold quality
anterior cingulate cortex	UBERON:0009835	82.58	gold quality
kidney epithelium	UBERON:0004819	82.50	silver quality
right lobe of thyroid gland	UBERON:0001119	82.38	gold quality
metanephros	UBERON:0000081	82.27	gold quality
left lobe of thyroid gland	UBERON:0001120	82.04	gold quality
caudate nucleus	UBERON:0001873	81.94	gold quality
thyroid gland	UBERON:0002046	81.80	gold quality
Brodmann (1909) area 23	UBERON:0013554	81.68	gold quality
nephron tubule	UBERON:0001231	81.34	silver quality
amygdala	UBERON:0001876	80.70	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	1555.12
E-CURD-119	yes	68.32
E-GEOD-135922	yes	16.39
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting SLC6A13, 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-4267	99.96	66.53	2368
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-495-5P	97.62	68.28	682
HSA-MIR-8056	97.15	64.49	769
HSA-MIR-4491	96.53	66.20	935
HSA-MIR-4657	96.53	66.57	895
HSA-MIR-3943	95.87	64.57	523

Literature-anchored findings (GeneRIF, showing 5)

• homology models of hGAT-2 and hGAT-3 were built and searched for (i) substrate conformation, (ii) prediction of substrate (inhibitor) interaction, and (iii) distinguishable allosteric Zn2+ inhibition by combining docking and MD calculations. (PMID:19450549)
• Results suggest that gamma-aminobutyric acid transporter 2 GAT-2 is a high selectivity/low affinity transporter. (PMID:22932902)
• Neurotransmitter transporters including SLC6A6 and SLC6A13 mediate the uptake of 5-aminolevulinic acid (ALA) and can play roles in the enhancement of ALA-induced accumulation of protoporphyrin in cancerous cells. (PMID:24842606)
• Evidence for a Revised Ion/Substrate Coupling Stoichiometry of GABA Transporters. (PMID:25824654)
• Transcription factor ASCL1 targets SLC6A13 to inhibit the progression of hepatocellular carcinoma via the glycine-inflammasome signaling. (PMID:38780447)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	SLC6A13	ENSDARG00000067567
mus_musculus	Slc6a13	ENSMUSG00000030108
rattus_norvegicus	Slc6a13	ENSRNOG00000012876

Paralogs (19): SLC6A7 (ENSG00000011083), SLC6A16 (ENSG00000063127), SLC6A15 (ENSG00000072041), SLC6A2 (ENSG00000103546), SLC6A4 (ENSG00000108576), SLC6A12 (ENSG00000111181), SLC6A8 (ENSG00000130821), SLC6A6 (ENSG00000131389), SLC6A11 (ENSG00000132164), SLC6A3 (ENSG00000142319), SLC6A1 (ENSG00000157103), SLC6A20 (ENSG00000163817), SLC6A18 (ENSG00000164363), SLC6A5 (ENSG00000165970), SLC6A19 (ENSG00000174358), SLC6A9 (ENSG00000196517), SLC6A17 (ENSG00000197106), SLC6A14 (ENSG00000268104), (ENSG00000273554)

Protein

Protein identifiers

Sodium- and chloride-dependent GABA transporter 2 — Q9NSD5 (reviewed: Q9NSD5)

Alternative names: Solute carrier family 6 member 13

All UniProt accessions (4): Q9NSD5, F5GZA5, F5H5D9, F5H6S9

UniProt curated annotations — full annotation on UniProt →

Function. Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA). Mediates transport of beta-alanine. Can also mediate transport of taurine and hypotaurine.

Subcellular location. Cell membrane. Basolateral cell membrane.

Tissue specificity. Expressed in brain, kidney, lung, liver and testis.

Activity regulation. GABA transport is inhibited by beta-alanine, 2,3-diaminopropionic acid and SNAP-5114.

Similarity. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NSD5-1	1	yes
Q9NSD5-2	2
Q9NSD5-3	3

RefSeq proteins (3): NP_001177926, NP_001230321, NP_057699* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000175	Na/ntran_symport	Family
IPR002981	Na/ntran_symport_GABA_GAT2	Family
IPR037272	SNS_sf	Homologous_superfamily

Pfam: PF00209

Catalyzed reactions (Rhea), 4 shown:

• 4-aminobutanoate(out) + chloride(out) + 2 Na(+)(out) = 4-aminobutanoate(in) + chloride(in) + 2 Na(+)(in) (RHEA:70687)
• taurine(out) + chloride(out) + 2 Na(+)(out) = taurine(in) + chloride(in) + 2 Na(+)(in) (RHEA:71223)
• hypotaurine(out) + chloride(out) + 2 Na(+)(out) = hypotaurine(in) + chloride(in) + 2 Na(+)(in) (RHEA:71243)
• beta-alanine(out) + chloride(out) + 2 Na(+)(out) = beta-alanine(in) + chloride(in) + 2 Na(+)(in) (RHEA:71247)

UniProt features (35 total): transmembrane region 12, mutagenesis site 4, sequence conflict 4, topological domain 3, splice variant 3, modified residue 2, glycosylation site 2, chain 1, region of interest 1, compositionally biased region 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NSD5-F1	89.18	0.76

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 (2): 587, 591

Disulfide bonds (1): 153–162

Glycosylation sites (2): 173, 269

Mutagenesis-validated functional residues (4):

Position	Phenotype
48	50% reduction of gaba-uptake.
48	90% reduction of gaba-uptake.
51	complete loss of gaba-uptake.
132	complete loss of gaba-uptake.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-442660	SLC-mediated transport of neurotransmitters
R-HSA-888593	Reuptake of GABA
R-HSA-112310	Neurotransmitter release cycle
R-HSA-112315	Transmission across Chemical Synapses
R-HSA-112316	Neuronal System
R-HSA-382551	Transport of small molecules
R-HSA-425366
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-888590	GABA synthesis, release, reuptake and degradation

MSigDB gene sets: 187 (showing top): RNGTGGGC_UNKNOWN, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_NEUROTRANSMITTER_UPTAKE, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, PATIL_LIVER_CANCER, GOBP_AMINO_ACID_TRANSPORT, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT

GO Biological Process (11): amino acid transport (GO:0006865), monocarboxylic acid transport (GO:0015718), taurine transmembrane transport (GO:0015734), creatine transmembrane transport (GO:0015881), sodium ion transmembrane transport (GO:0035725), gamma-aminobutyric acid reuptake (GO:0051936), gamma-aminobutyric acid import (GO:0051939), amino acid import across plasma membrane (GO:0089718), transport across blood-brain barrier (GO:0150104), neurotransmitter transport (GO:0006836), transmembrane transport (GO:0055085)

GO Molecular Function (11): amino acid:sodium symporter activity (GO:0005283), creatine transmembrane transporter activity (GO:0005308), gamma-aminobutyric acid:sodium:chloride symporter activity (GO:0005332), taurine:sodium symporter activity (GO:0005369), monocarboxylic acid transmembrane transporter activity (GO:0008028), amino acid transmembrane transporter activity (GO:0015171), gamma-aminobutyric acid transmembrane transporter activity (GO:0015185), protein binding (GO:0005515), symporter activity (GO:0015293), transmembrane transporter activity (GO:0022857), metal ion binding (GO:0046872)

GO Cellular Component (6): plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), cell projection (GO:0042995), extracellular exosome (GO:0070062), presynapse (GO:0098793), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
SLC-mediated transmembrane transport	1
GABA synthesis, release, reuptake and degradation	1
Transmission across Chemical Synapses	1
Neuronal System	1
Transport of small molecules	1
Neurotransmitter release cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
gamma-aminobutyric acid transport	3
cellular anatomical structure	3
monocarboxylic acid transport	2
amino acid transmembrane transport	2
organic acid:sodium symporter activity	2
carboxylic acid transmembrane transporter activity	2
carboxylic acid transport	1
alkanesulfonate transmembrane transport	1
nitrogen compound transport	1
modified amino acid transport	1
carboxylic acid transmembrane transport	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
amino acid neurotransmitter reuptake	1
acidic amino acid transport	1
import across plasma membrane	1
vascular transport	1
cellular process	1
amino acid:monoatomic cation symporter activity	1
solute:sodium symporter activity	1
monocarboxylic acid transmembrane transporter activity	1
creatine transmembrane transport	1
modified amino acid transmembrane transporter activity	1
amino acid:sodium symporter activity	1
gamma-aminobutyric acid transmembrane transporter activity	1
secondary active monocarboxylate transmembrane transporter activity	1
sodium:chloride symporter activity	1
taurine transmembrane transporter activity	1
transmembrane transporter activity	1
amino acid transmembrane transporter activity	1
binding	1
secondary active transmembrane transporter activity	1
transporter activity	1
transmembrane transport	1
cation binding	1
membrane	1
cell periphery	1
basal plasma membrane	1
plasma membrane region	1

Protein interactions and networks

STRING

1118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC6A13	CASTOR3P	Q8NAP1	884
SLC6A13	GABRA5	P31644	811
SLC6A13	GABRD	O14764	804
SLC6A13	SLC32A1	Q9H598	608
SLC6A13	SLC1A2	P43004	600
SLC6A13	GAD2	Q05329	600
SLC6A13	GAD1	Q99259	594
SLC6A13	SLC1A3	P43003	590
SLC6A13	SLC22A6	Q4U2R8	519
SLC6A13	BEST1	O76090	511
SLC6A13	GAPDH	P00354	477
SLC6A13	SLC1A1	P43005	472
SLC6A13	SEC24B	O95487	471
SLC6A13	ZNF529	Q6P280	470
SLC6A13	ACTB	P02570	453

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ATXN1	SLC6A13	psi-mi:“MI:0915”(physical association)	0.370
SLC6A13	SPTLC2	psi-mi:“MI:0914”(association)	0.350

BioGRID (18): SLC6A13 (Two-hybrid), SLC6A13 (Two-hybrid), SLC6A13 (Co-localization), ABCB8 (Affinity Capture-MS), C6orf47 (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTG (Affinity Capture-MS), POMK (Affinity Capture-MS), RAB5B (Affinity Capture-MS), RNF121 (Affinity Capture-MS), SLC6A16 (Affinity Capture-MS), SLC6A7 (Affinity Capture-MS), SLC6A8 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX25 (Affinity Capture-MS)

ESM2 similar proteins: A1A4N1, A2VE54, A5PJX7, B0S5Y3, B5X4H8, O00400, O01840, O18875, O54699, P23977, P28570, P28573, P31661, P47040, P48029, P48055, P91679, Q01959, Q08B29, Q14542, Q1KKV8, Q28E13, Q2PG55, Q4HX89, Q4X0S3, Q5SPF7, Q61327, Q61672, Q69JW3, Q6BZ39, Q6BZW3, Q6DDL7, Q6DG19, Q6GMG6, Q710D3, Q758C3, Q80WK7, Q84XI3, Q86WB7, Q8VBW1

Diamond homologs: A5PJX7, A7Y2W8, A7Y2X0, B3MRS1, B3NV41, B4GVM9, B4JMC1, B4L7U0, B4MEG2, B4NDL8, B4PZQ4, B4R4T6, G5EBN9, O18875, O35316, O35899, O45813, O55192, O76689, O88575, O88576, P23975, P23977, P23978, P27799, P27922, P28570, P28571, P28572, P28573, P30531, P31641, P31643, P31645, P31646, P31647, P31648, P31649, P31650, P31651

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
85375-15-1	down-regulates	SLC6A13	“chemical inhibition”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	79
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3065553	NM_016615.5(SLC6A13):c.563+1G>A	Likely pathogenic

SpliceAI

3490 predictions. Top by Δscore:

Variant	Effect	Δscore
12:221373:TA:T	donor_loss	1.0000
12:221374:A:T	donor_loss	1.0000
12:221375:CCT:C	donor_gain	1.0000
12:221375:CCTCT:C	donor_gain	1.0000
12:221526:C:CT	acceptor_gain	1.0000
12:221543:TGGC:T	acceptor_gain	1.0000
12:221545:GCCTG:G	acceptor_loss	1.0000
12:221546:CCTG:C	acceptor_loss	1.0000
12:221547:C:CC	acceptor_gain	1.0000
12:221547:CTGAG:C	acceptor_loss	1.0000
12:222530:A:AC	donor_gain	1.0000
12:222531:C:CC	donor_gain	1.0000
12:222637:C:CT	acceptor_gain	1.0000
12:223127:CTCA:C	donor_loss	1.0000
12:223128:TCACC:T	donor_loss	1.0000
12:223129:CACCG:C	donor_loss	1.0000
12:223130:A:AC	donor_gain	1.0000
12:223130:A:C	donor_loss	1.0000
12:223131:C:CC	donor_gain	1.0000
12:223131:C:CG	donor_loss	1.0000
12:223230:CCGCC:C	acceptor_gain	1.0000
12:223231:CGCCC:C	acceptor_gain	1.0000
12:223233:CC:C	acceptor_gain	1.0000
12:223233:CCCTG:C	acceptor_loss	1.0000
12:223234:CC:C	acceptor_gain	1.0000
12:223234:CCTGC:C	acceptor_loss	1.0000
12:223235:C:CA	acceptor_loss	1.0000
12:223235:C:CC	acceptor_gain	1.0000
12:223238:C:CT	acceptor_gain	1.0000
12:223239:A:C	acceptor_gain	1.0000

AlphaMissense

3925 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:224497:G:C	F359L	0.999
12:224497:G:T	F359L	0.999
12:224499:A:G	F359L	0.999
12:226451:G:C	F333L	0.999
12:226451:G:T	F333L	0.999
12:226453:A:G	F333L	0.999
12:226475:G:C	S325R	0.999
12:226475:G:T	S325R	0.999
12:226477:T:G	S325R	0.999
12:227665:A:G	W279R	0.999
12:227665:A:T	W279R	0.999
12:243806:G:C	F70L	0.999
12:243806:G:T	F70L	0.999
12:243808:A:G	F70L	0.999
12:259879:A:C	F58L	0.999
12:259879:A:T	F58L	0.999
12:259881:A:G	F58L	0.999
12:259883:C:A	R57M	0.999
12:259883:C:G	R57T	0.999
12:259887:A:G	W56R	0.999
12:259887:A:T	W56R	0.999
12:259891:G:C	N54K	0.999
12:259891:G:T	N54K	0.999
12:259913:C:T	G47E	0.999
12:259930:A:C	F41L	0.999
12:259930:A:T	F41L	0.999
12:259932:A:G	F41L	0.999
12:259948:C:A	W35C	0.999
12:259948:C:G	W35C	0.999
12:259950:A:G	W35R	0.999

dbSNP variants (sampled 300 via entrez): RS1000067491 (12:234450 T>C), RS1000139930 (12:247355 A>C,G), RS1000424385 (12:244497 T>C), RS1000484777 (12:222845 C>T), RS1000747709 (12:221923 G>A), RS1000776701 (12:261540 AGCCTCAAGCAAAGTTCAT>A), RS1000791371 (12:257848 C>T), RS1000820362 (12:221686 T>A,C), RS1000857557 (12:259103 G>A), RS1000965079 (12:226119 G>A), RS1000981878 (12:263714 A>G,T), RS1001062840 (12:237837 T>C), RS1001079137 (12:260944 A>G), RS1001169439 (12:233949 G>T), RS1001233887 (12:240637 G>C)

Disease associations

OMIM: gene MIM:615097 | 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
GCST000649_10	Chronic kidney disease	1.000000e-09
GCST001852_6	Metabolite levels	2.000000e-10
GCST002388_12	Serum metabolite levels	1.000000e-12
GCST002875_57	Diisocyanate-induced asthma	1.000000e-06
GCST003119_7	Urinary metabolites	1.000000e-17
GCST003372_25	Glomerular filtration rate (creatinine)	5.000000e-12
GCST003401_23	Glomerular filtration rate in non diabetics (creatinine)	1.000000e-12
GCST004292_28	Glomerular filtration rate (creatinine)	1.000000e-08
GCST005984_35	Glomerular filtration rate	3.000000e-09
GCST007344_28	Estimated glomerular filtration rate	2.000000e-09
GCST007576_263	Chronotype	6.000000e-11
GCST007876_29	Estimated glomerular filtration rate	4.000000e-21
GCST007877_15	Creatinine levels	2.000000e-08
GCST008058_166	Estimated glomerular filtration rate	1.000000e-37
GCST008059_127	Estimated glomerular filtration rate	6.000000e-36
GCST008745_83	Estimated glomerular filtration rate in non-diabetics	4.000000e-09
GCST008747_30	Estimated glomerular filtration rate	7.000000e-21
GCST009733_146	Urinary metabolite levels in chronic kidney disease	5.000000e-15
GCST010002_204	Refractive error	2.000000e-08
GCST012020_446	Serum metabolite levels	2.000000e-23
GCST012020_447	Serum metabolite levels	2.000000e-67
GCST012020_448	Serum metabolite levels	3.000000e-57
GCST012020_449	Serum metabolite levels	4.000000e-11
GCST012020_450	Serum metabolite levels	1.000000e-20
GCST012020_451	Serum metabolite levels	5.000000e-17

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004471	insulin sensitivity measurement
EFO:0006995	response to diisocyanate
EFO:0005116	urinary metabolite measurement
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4535 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 160,188 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL96	GAMMA-AMINOBUTYRIC ACID	1	160,188

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — GABA transporter subfamily

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
SNAP-5114	Inhibition	4.7	pIC50

ChEMBL bioactivities

6 potent at pChembl≥5 of 19 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.54	IC50	2900	nM	CHEMBL4458674
5.50	IC50	3162	nM	CHEMBL4458674
5.21	IC50	6200	nM	CHEMBL1446457
5.14	IC50	7300	nM	CHEMBL1788265
5.10	IC50	7943	nM	CHEMBL1788265
5.10	IC50	7943	nM	CHEMBL79325

PubChem BioAssay actives

6 with measured affinity, of 120 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-(4,5-dihydro-1H-imidazol-5-yl)acetic acid	1599051: Inhibition of human GAT2 expressed in Flp-In CHO cells assessed as reduction in [3H]GABA uptake incubated for 3 mins by liquid scintillation counting method	ic50	2.9000	uM
1-(3-carbazol-9-ylpropyl)-4-(2-methoxyphenyl)piperidin-4-ol	1188931: Inhibition of human GAT2 transfected in CHO cells assessed as [3H]GABA uptake after 20 mins by liquid scintillation counting analysis	ic50	6.2000	uM
2-[(3R)-pyrrolidin-3-yl]acetic acid	1599051: Inhibition of human GAT2 expressed in Flp-In CHO cells assessed as reduction in [3H]GABA uptake incubated for 3 mins by liquid scintillation counting method	ic50	7.3000	uM
2-(2-amino-4,5-dihydro-1,3-thiazol-4-yl)acetic acid	1599051: Inhibition of human GAT2 expressed in Flp-In CHO cells assessed as reduction in [3H]GABA uptake incubated for 3 mins by liquid scintillation counting method	ic50	7.9433	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	2
Tobacco Smoke Pollution	increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
aristolochic acid I	increases expression	1
methyleugenol	decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
PCI 5002	increases expression, affects cotreatment	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	decreases expression, affects cotreatment	1
Arsenic	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	increases expression	1
gamma-Aminobutyric Acid	increases export	1
Hydralazine	affects cotreatment, increases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Plant Oils	increases expression	1
Rotenone	decreases expression	1
Silver	increases expression	1
Testosterone	increases expression	1
Thiram	increases expression	1

ChEMBL screening assays

15 unique, capped per target: 15 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1166722	Binding	Binding affinity to GAT2	Azetidine derivatives as novel gamma-aminobutyric acid uptake inhibitors: synthesis, biological evaluation, and structure-activity relationship. — Eur J Med Chem

Clinical trials (associated diseases)

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