Details of the Drug Transporter (DTP)

General Information of Drug Transporter (DTP) (ID: DTBPTJF)

DTP Name Na(+)/Cl(-) betaine/GABA transporter (SLC6A12)
Gene Name SLC6A12
UniProt ID
P48065 (S6A12_HUMAN)
VARIDT ID
DTD0444
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Synonyms BGT-1; BGT1; SLC6A12; Sodium- and chloride-dependent betaine transporter; Solute carrier family 6 member 12
DTP Family Neurotransmitter:Sodium Symporter (NSS) Family ;
Tissue Specificity Liver, heart, skeletal muscle, placenta, and awidespread distribution in the brain.
Sequence
MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
TREGLIAGEKETHL
Function
This transporter may have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation. Transports betaine and GABA.
Endogenous Substrate(s) Diaminobutyrate; Dimethylglycine; Gamma-aminobutyric acid; Na+
TCDB ID
2.A.22.3.1
Gene ID
6539
KEGG Pathway
Synaptic vesicle cycle (hsa04721 )
GABAergic synapse (hsa04727 )
Reactome Pathway
Na+/Cl- dependent neurotransmitter transporters (R-HSA-442660 )
Creatine metabolism (R-HSA-71288 )
Reuptake of GABA (R-HSA-888593 )
Amino acid transport across the plasma membrane (R-HSA-352230 )

Molecular Interaction Atlas (MIA) of This DTP

Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DTP
4 Approved Drug(s) Transported by This DTP
Drug Name Drug ID Indication ICD 11 Highest Status REF
Betaine DMGRZW2 Cystitis GC00 Approved [4]
Glycine DMIOZ29 Allergic rhinitis CA08.0 Approved [5]
L-Proline DMKSTWR Malnutrition 5B50-5B71 Approved [5]
Quinine DMSWYF5 Malaria 1F40-1F45 Approved [6]
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1 Investigative Drug(s) Transported by This DTP
Drug Name Drug ID Indication ICD 11 Highest Status REF
CHOLINE DM5D9YK Insomnia 7A00-7A0Z Investigative [5]
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Molecular Expression Atlas (MEA) of This DTP

Molecular Expression Atlas (MEA) Jump to Detail Molecular Expression Atlas of This DTP
Disease Name ICD 11 Studied Tissue p-value Fold-Change Z-score
Acute myelocytic leukaemia 2B33.1 Bone marrow 4.84E-05 5.34E-02 2.43E-01
Adrenocortical carcinoma 2D11.Z Kidney 5.08E-01 -1.89E-02 -5.80E-02
Alopecia ED70 Skin from scalp 2.10E-02 1.11E-01 4.36E-01
Alzheimer's disease 8A20 Entorhinal cortex 2.77E-10 4.70E-01 1.06E+00
Ankylosing spondylitis FA92.0 Pheripheral blood 5.15E-01 -9.42E-02 -1.23E-01
Aortic stenosis BB70 Calcified aortic valve 9.29E-01 -6.08E-02 -9.11E-02
Apnea 7A40 Hyperplastic tonsil 3.30E-01 -2.19E-01 -7.89E-01
Arthropathy FA00-FA5Z Peripheral blood 8.20E-01 -6.99E-02 -2.70E-01
Asthma CA23 Nasal and bronchial airway 5.04E-04 1.96E-01 3.00E-01
Atopic dermatitis EA80 Skin 7.98E-01 -9.93E-03 -6.48E-02
Autism 6A02 Whole blood 1.11E-01 4.29E-02 1.68E-01
Autoimmune uveitis 9A96 Peripheral monocyte 3.34E-01 1.98E-01 6.24E-01
Autosomal dominant monocytopenia 4B04 Whole blood 1.67E-01 9.44E-02 3.23E-01
Bacterial infection of gingival 1C1H Gingival tissue 6.61E-02 1.01E-01 3.02E-01
Batten disease 5C56.1 Whole blood 5.95E-01 -1.00E-01 -2.68E-01
Behcet's disease 4A62 Peripheral blood 5.43E-01 2.55E-02 7.83E-02
Bipolar disorder 6A60-6A6Z Prefrontal cortex 6.48E-01 -4.12E-02 -1.66E-01
Bladder cancer 2C94 Bladder tissue 1.11E-03 4.64E-01 1.96E+00
Breast cancer 2C60-2C6Z Breast tissue 5.57E-01 -9.43E-06 -2.70E-05
Cardioembolic stroke 8B11.20 Whole blood 1.23E-01 3.54E-01 4.33E-01
Cervical cancer 2C77 Cervical tissue 3.28E-01 3.68E-02 1.17E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 1.26E-01 2.80E-01 6.05E-01
Chronic hepatitis C 1E51.1 Whole blood 7.43E-01 -2.57E-02 -9.12E-02
Chronic obstructive pulmonary disease CA22 Lung tissue 7.82E-03 1.91E-01 7.24E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 1.55E-01 3.16E-02 1.39E-01
Chronic rhinosinusitis CA0A Sinus mucosa tissue 5.27E-01 -8.33E-03 -5.35E-02
Colon cancer 2B90 Colon tissue 1.62E-11 -2.27E-01 -5.41E-01
Coronary artery disease BA80-BA8Z Peripheral blood 6.13E-01 -1.31E-01 -1.74E+00
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 1.52E-01 1.44E-01 7.09E-01
Endometriosis GA10 Endometrium tissue 1.05E-04 3.33E-01 1.01E+00
Familial hypercholesterolemia 5C80.00 Peripheral blood 2.32E-01 -7.64E-02 -4.13E-01
Familial hypercholesterolemia 5C80.00 Whole blood 4.89E-02 3.52E-01 1.11E+00
Gastric cancer 2B72 Gastric tissue 9.24E-01 8.99E-02 2.43E-01
Glioblastopma 2A00.00 Nervous tissue 5.93E-116 -1.10E+00 -1.77E+00
Glioma 2A00.0Y-2A00.0Z White matter tissue 1.15E-01 -3.29E-01 -3.52E-01
Head and neck cancer 2D42 Head and neck tissue 1.57E-01 4.43E-02 2.30E-01
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 8.49E-01 -8.77E-03 -2.27E-02
Huntington's disease 8A01.10 Whole blood 1.72E-01 -1.51E-01 -5.58E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 2.65E-02 5.58E-01 1.61E+00
Immunodeficiency 4A00-4A20 Peripheral blood 7.80E-01 -3.30E-02 -3.93E-01
Influenza 1.00E+30 Whole blood 4.05E-01 -8.87E-01 -1.79E+00
Interstitial cystitis GC00.3 Bladder tissue 6.41E-01 4.66E-02 1.47E-01
Intracranial aneurysm 8B01.0 Intracranial artery 1.34E-03 7.70E-01 3.08E+00
Irritable bowel syndrome DD91.0 Rectal colon tissue 7.51E-02 6.70E-02 8.29E-02
Ischemic stroke 8B11 Peripheral blood 2.76E-01 -3.86E-02 -1.29E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 1.30E-02 -2.46E-01 -4.28E-01
Lateral sclerosis 8B60.4 Cervical spinal cord 5.88E-01 -8.19E-02 -1.71E-01
Lateral sclerosis 8B60.4 Skin 8.14E-02 1.04E-01 1.23E+00
Liver cancer 2C12.0 Liver tissue 9.37E-12 -1.16E+00 -1.29E+00
Liver failure DB99.7-DB99.8 Liver tissue 2.62E-05 -2.05E+00 -3.03E+00
Lung cancer 2C25 Lung tissue 1.01E-14 -2.69E-01 -7.12E-01
Lupus erythematosus 4A40 Whole blood 2.35E-01 -3.92E-02 -7.07E-02
Major depressive disorder 6A70-6A7Z Whole blood 9.95E-01 -7.67E-02 -1.10E-01
Major depressive disorder 6A70-6A7Z Hippocampus 1.07E-01 -5.04E-02 -2.09E-01
Melanoma 2C30 Skin 1.73E-02 8.32E-01 9.15E-01
Multiple myeloma 2A83.1 Bone marrow 7.18E-01 -1.84E-02 -1.41E-01
Multiple myeloma 2A83.1 Peripheral blood 3.60E-01 9.97E-02 6.50E-01
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 1.60E-01 1.35E-01 5.79E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 3.09E-03 9.48E-02 4.63E-01
Myelofibrosis 2A20.2 Whole blood 4.12E-01 -9.80E-02 -5.44E-01
Myocardial infarction BA41-BA50 Peripheral blood 8.53E-02 3.92E-01 3.29E-01
Myopathy 8C70.6 Muscle tissue 6.84E-01 -6.93E-02 -4.43E-01
Neonatal sepsis KA60 Whole blood 3.92E-04 9.79E-02 2.90E-01
Neuroectodermal tumour 2A00.11 Brain stem tissue 2.00E-09 -1.56E+00 -5.68E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 1.52E-01 -2.91E-01 -5.67E-01
Obesity related type 2 diabetes 5A11 Omental adipose tissue 4.99E-01 2.70E-02 2.59E-01
Olive pollen allergy CA08.00 Peripheral blood 6.59E-01 1.63E-01 5.30E-01
Oral cancer 2B6E Oral tissue 9.96E-01 -1.39E-01 -3.98E-01
Osteoarthritis FA00-FA0Z Synovial tissue 8.24E-01 -8.60E-02 -5.58E-01
Osteoporosis FB83.1 Bone marrow 1.58E-02 2.65E-01 1.78E+00
Ovarian cancer 2C73 Ovarian tissue 1.53E-07 6.90E-01 3.01E+00
Pancreatic cancer 2C10 Pancreas 3.55E-01 -1.61E-01 -2.58E-01
Parkinson's disease 8A00.0 Substantia nigra tissue 2.74E-02 2.41E-01 7.42E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 6.75E-03 2.12E-01 8.24E-01
Pituitary cancer 2D12 Pituitary tissue 7.95E-01 -1.04E-01 -3.79E-01
Pituitary gonadotrope tumour 2D12 Pituitary tissue 4.05E-01 -8.50E-02 -3.70E-01
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 6.93E-01 9.32E-02 4.10E-01
Polycythemia vera 2A20.4 Whole blood 9.86E-06 1.59E-01 7.44E-01
Pompe disease 5C51.3 Biceps muscle 3.31E-01 5.26E-02 4.38E-01
Preterm birth KA21.4Z Myometrium 8.54E-01 -7.96E-02 -3.03E-01
Prostate cancer 2C82 Prostate 3.38E-05 -1.42E+00 -1.77E+00
Psoriasis EA90 Skin 8.44E-10 -2.06E-01 -5.67E-01
Rectal cancer 2B92 Rectal colon tissue 2.04E-01 -2.24E-01 -3.66E-01
Renal cancer 2C90-2C91 Kidney 3.34E-03 -1.47E+00 -1.27E+00
Retinoblastoma 2D02.2 Uvea 1.22E-02 -2.46E-01 -1.21E+00
Rheumatoid arthritis FA20 Synovial tissue 7.88E-01 1.41E-01 5.57E-01
Rhinovirus infection CA42.1 Nasal epithelium tissue 4.38E-01 -1.16E-02 -7.96E-02
Schizophrenia 6A20 Prefrontal cortex 1.29E-01 -1.84E-01 -2.97E-01
Schizophrenia 6A20 Superior temporal cortex 5.04E-01 9.24E-03 2.73E-02
Scleroderma 4A42.Z Whole blood 2.86E-04 3.83E-01 1.93E+00
Seizure 8A60-8A6Z Whole blood 2.02E-01 -1.94E-01 -4.60E-01
Sensitive skin EK0Z Skin 6.78E-01 0.00E+00 0.00E+00
Sepsis with septic shock 1G41 Whole blood 1.56E-07 1.23E-01 3.64E-01
Shwachman-Diamond syndrome 3A70.0 Bone marrow 3.22E-02 4.41E-01 1.69E+00
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 4.31E-01 -2.92E-02 -1.47E-01
Simpson golabi behmel syndrome LD2C Adipose tissue 2.32E-01 8.90E-02 1.24E+00
Sjogren's syndrome 4A43.2 Salivary gland tissue 3.29E-01 2.60E-01 9.29E-01
Skin cancer 2C30-2C3Z Skin 4.61E-01 -4.54E-02 -9.18E-02
Thrombocythemia 3B63 Whole blood 4.20E-02 6.86E-02 3.40E-01
Thrombocytopenia 3B64 Whole blood 7.84E-01 1.38E-02 5.78E-02
Thyroid cancer 2D10 Thyroid 9.56E-01 -9.62E-02 -2.14E-01
Tibial muscular dystrophy 8C75 Muscle tissue 1.97E-01 -6.59E-02 -2.49E-01
Tuberous sclerosis complex LD2D.2 Perituberal tissue 5.06E-01 -2.89E-01 -7.71E-01
Type 2 diabetes 5A11 Liver tissue 5.74E-02 -4.54E-01 -1.44E+00
Ureter cancer 2C92 Urothelium 4.40E-01 2.45E-02 1.29E-01
Uterine cancer 2C78 Endometrium tissue 6.11E-02 -1.38E-01 -1.82E-01
Vitiligo ED63.0 Skin 7.59E-01 7.78E-02 1.89E-01
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⏷ Show the Full List of Expression Under 107 Diseases

The Drug Therapeutic Target (DTT) Role of This DTP

DTP DTT Name Na(+)/Cl(-) betaine/GABA transporter (SLC6A12) DTT Info
DTP DTT Type Literature-reported
5 Investigative Drug(s) Targeting This DTP
Drug Name Drug ID Indication ICD 11 Highest Status REF
(R)-EF-1520 DM297MU Discovery agent N.A. Investigative [1]
(R/S) EF-1500 DMYDG27 Discovery agent N.A. Investigative [1]
(S)-EF-1520 DM0EQTM Discovery agent N.A. Investigative [1]
LU32-176B DM2YOVC Discovery agent N.A. Investigative [2]
NNC052090 DMCGF3U Discovery agent N.A. Investigative [3]
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References

1 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 932).
2 First demonstration of a functional role for central nervous system betaine/{gamma}-aminobutyric acid transporter (mGAT2) based on synergistic anti... J Pharmacol Exp Ther. 2005 Feb;312(2):866-74.
3 1-(3-(9H-carbazol-9-yl)-1-propyl)-4-(2-methoxyphenyl)-4-piperidinol, a novel subtype selective inhibitor of the mouse type II GABA-transporter. Br J Pharmacol. 1997 Mar;120(6):983-5.
4 Deletion of the betaine-GABA transporter (BGT1; slc6a12) gene does not affect seizure thresholds of adult mice. Epilepsy Res. 2011 Jun;95(1-2):70-81.
5 Interpreting metabolomic profiles using unbiased pathway models. PLoS Comput Biol. 2010 Feb 26;6(2):e1000692.
6 The Transporter Classification Database (TCDB): recent advances. Nucleic Acids Res. 2016 Jan 4;44(D1):D372-9. (ID: 2.A.22.3.1)