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Aliases for SLC6A12 Gene

Aliases for SLC6A12 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 12 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Betaine/GABA), Member 12 2 3
  • Na(+)/Cl(-) Betaine/GABA Transporter 3 4
  • Betaine/GABA Transporter-1 2 3
  • BGT-1 3 4
  • Sodium- And Chloride-Dependent Betaine Transporter 3
  • Gamma-Aminobutyric Acid Transporter 3
  • Solute Carrier Family 6 Member 12 4
  • GAT2 3
  • BGT1 3

External Ids for SLC6A12 Gene

Summaries for SLC6A12 Gene

GeneCards Summary for SLC6A12 Gene

SLC6A12 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 12) is a Protein Coding gene. Diseases associated with SLC6A12 include schizophrenia. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A4.

UniProtKB/Swiss-Prot for SLC6A12 Gene

  • Transports betaine and GABA. 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

Tocris Summary for SLC6A12 Gene

  • GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters (GAT-1, GAT-2, GAT-3 and BGT-1) have been identified and localized to neurons and glia. While GAT-1, GAT-2, GAT-3 and BGT-1 bind GABA with varying affinities, they share structural motifs including 12-TM domains, extracellular glycosylation sites and intracellular consensus sites for phosphorylation. A vesicular transporter (VGAT) has also been identified. This member of the SCL32 family is both structurally and functionally distinct, containing 10-TM domains and being found in GABAergic and glycinergic neurons. Some anticonvulsants have been reported to act upon the GABA transporters. There is evidence to suggest that GABA transporters are linked to epilepsy, affective disorders and schizophrenia.

No data available for Entrez Gene Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A12 Gene

Genomics for SLC6A12 Gene

Genomic Location for SLC6A12 Gene

Start:
190,077 bp from pter
End:
214,570 bp from pter
Size:
24,494 bases
Orientation:
Minus strand

Genomic View for SLC6A12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A12 Gene

Regulatory Elements for SLC6A12 Gene

Transcription factor binding sites by QIAGEN in the SLC6A12 gene promoter:

Proteins for SLC6A12 Gene

  • Protein details for SLC6A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48065-S6A12_HUMAN
    Recommended name:
    Sodium- and chloride-dependent betaine transporter
    Protein Accession:
    P48065
    Secondary Accessions:
    • A0AV52
    • B2R992
    • D3DUN8

    Protein attributes for SLC6A12 Gene

    Size:
    614 amino acids
    Molecular mass:
    69368 Da
    Quaternary structure:
    • Interacts with LIN7C.

neXtProt entry for SLC6A12 Gene

Proteomics data for SLC6A12 Gene at MOPED

Post-translational modifications for SLC6A12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC6A12 Gene

No data available for DME Specific Peptides for SLC6A12 Gene

Domains for SLC6A12 Gene

Gene Families for SLC6A12 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC6A12 Gene

UniProtKB/Swiss-Prot:

S6A12_HUMAN
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 subfamily.:
    • P48065
genes like me logo Genes that share domains with SLC6A12: view

Function for SLC6A12 Gene

Molecular function for SLC6A12 Gene

GENATLAS Biochemistry: solute carrier family 6,member A12,neurotransmitter transporter,betaine/GABA,expressed in brain,kidney,activated by tonicity responsive enhancers (TONE1-TONE2),located in the 5flanking region of the gene
UniProtKB/Swiss-Prot Function: Transports betaine and GABA. 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

Gene Ontology (GO) - Molecular Function for SLC6A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005332 gamma-aminobutyric acid:sodium symporter activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SLC6A12: view

Phenotypes for SLC6A12 Gene

MGI mutant phenotypes for SLC6A12:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with SLC6A12: view

miRNA for SLC6A12 Gene

miRTarBase miRNAs that target SLC6A12

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC6A12 Gene

Localization for SLC6A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A12 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A12 Gene COMPARTMENTS Subcellular localization image for SLC6A12 gene
Compartment Confidence
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for SLC6A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016021 integral component of membrane TAS 7861179
genes like me logo Genes that share ontologies with SLC6A12: view

Pathways for SLC6A12 Gene

genes like me logo Genes that share pathways with SLC6A12: view

Gene Ontology (GO) - Biological Process for SLC6A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7861179
GO:0006811 ion transport TAS --
GO:0006836 neurotransmitter transport --
GO:0006865 amino acid transport TAS --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with SLC6A12: view

Compounds for SLC6A12 Gene

(5) Tocris Compounds for SLC6A12 Gene

Compound Action Cas Number
(S)-SNAP 5114 GABA uptake inhibitor [157604-55-2]
NNC 05-2090 hydrochloride GABA uptake inhibitor; moderately BGT-1 selective [184845-43-0]
NNC 711 Selective inhibitor of GAT-1 [145645-62-1]
SKF 89976A hydrochloride Potent GABA uptake inhibitor. Penetrates blood brain barrier [85375-15-1]
Tiagabine hydrochloride GABA uptake inhibitor; anticonvulsant [145821-59-6]

(2) HMDB Compounds for SLC6A12 Gene

Compound Synonyms Cas Number PubMed IDs
Betaine
  • (Carboxymethyl)trimethylammonium hydroxide inner salt
107-43-7
Sodium
  • Sodium
7440-23-5

(4) IUPHAR Ligand for SLC6A12 Gene

Ligand Type Action Affinity Pubmed IDs
NNC052090 Inhibitor Inhibition 5.6
(R/S) EF-1500 Inhibitor Inhibition 4.9
LU32-176B Inhibitor Inhibition 4
(R/S)-EF-1502 Inhibitor Inhibition

(7) Novoseek inferred chemical compound relationships for SLC6A12 Gene

Compound -log(P) Hits PubMed IDs
betaine 83.5 18
gaba 81.8 45
nacl 21.7 5
dopamine 19.4 6
norepinephrine 16.8 4
genes like me logo Genes that share compounds with SLC6A12: view

Transcripts for SLC6A12 Gene

Unigene Clusters for SLC6A12 Gene

Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6: -
SP7: - - - -
SP8: - - -
SP9: - - -
SP10: - - - -
SP11:

ExUns: 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SLC6A12 Gene

GeneLoc Exon Structure for
SLC6A12
ECgene alternative splicing isoforms for
SLC6A12

Expression for SLC6A12 Gene

mRNA expression in normal human tissues for SLC6A12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A12 Gene

This gene is overexpressed in Kidney - Cortex (11.4), Liver (5.4), and Brain - Putamen (basal ganglia) (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC6A12 Gene

SOURCE GeneReport for Unigene cluster for SLC6A12 Gene Hs.437174

mRNA Expression by UniProt/SwissProt for SLC6A12 Gene

P48065-S6A12_HUMAN
Tissue specificity: Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain
genes like me logo Genes that share expressions with SLC6A12: view

Orthologs for SLC6A12 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A12 36
  • 99.13 (n)
  • 98.69 (a)
SLC6A12 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A12 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A12 36
  • 89.2 (n)
  • 91.37 (a)
SLC6A12 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a12 36
  • 85.99 (n)
  • 87.79 (a)
Slc6a12 16
Slc6a12 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A12 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a12 36
  • 85.02 (n)
  • 86.64 (a)
chicken
(Gallus gallus)
Aves SLC6A12 37
  • 72 (a)
OneToOne
SLC6A13 36
  • 72.3 (n)
  • 73.34 (a)
lizard
(Anolis carolinensis)
Reptilia SLC6A12 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492029 36
  • 71.07 (n)
  • 73.37 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.25768 36
slc6a11a 37
  • 58 (a)
OneToMany
SLC6A12 (3 of 8) 37
  • 55 (a)
OneToMany
SLC6A12 (4 of 8) 37
  • 54 (a)
OneToMany
SLC6A12 (5 of 8) 37
  • 55 (a)
OneToMany
SLC6A12 (7 of 8) 37
  • 54 (a)
OneToMany
SLC6A12 (8 of 8) 37
  • 54 (a)
OneToMany
slc6a13 37
  • 62 (a)
OneToMany
slc6a13l 37
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ine 38
  • 42 (a)
BG:DS03431.1 38
  • 35 (a)
CG7075 38
  • 35 (a)
CG4476 38
  • 35 (a)
CG1732 38
  • 53 (a)
CG10804 38
  • 36 (a)
CG5549 38
  • 41 (a)
CG8850 38
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-8 38
  • 24 (a)
snf-4 38
  • 33 (a)
snf-3 38
  • 42 (a)
snf-12 38
  • 31 (a)
snf-11 38
  • 48 (a)
snf-6 38
  • 30 (a)
snf-1 38
  • 24 (a)
snf-2 38
  • 31 (a)
Species with no ortholog for SLC6A12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A12 Gene

ENSEMBL:
Gene Tree for SLC6A12 (if available)
TreeFam:
Gene Tree for SLC6A12 (if available)

Paralogs for SLC6A12 Gene

genes like me logo Genes that share paralogs with SLC6A12: view

Variants for SLC6A12 Gene

Sequence variations from dbSNP and Humsavar for SLC6A12 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs216238 -- 200,343(+) gacct(C/T)gtgat intron-variant
rs216239 -- 200,354(+) CCGCC(A/C)GCCTC intron-variant
rs216240 -- 200,397(+) gccac(C/T)gcacc intron-variant
rs216241 -- 200,407(+) CCGGC(A/C)GCCCT intron-variant
rs216242 -- 201,000(+) AGATT(A/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A12 Gene

Variant ID Type Subtype PubMed ID
nsv428269 CNV Gain+Loss 18775914
nsv898552 CNV Gain 21882294
nsv832302 CNV Gain 17160897
nsv470252 CNV Gain 18288195
nsv898557 CNV Gain 21882294
dgv87n21 CNV Loss 19592680
nsv898559 CNV Loss 21882294
nsv898560 CNV Loss 21882294
nsv468947 CNV Gain 19166990
nsv898561 CNV Gain 21882294
nsv898562 CNV Loss 21882294
nsv569 CNV Loss 18451855
nsv523142 CNV Gain 19592680
esv2319687 CNV Deletion 18987734
esv2627142 CNV Insertion 19546169
esv1221367 CNV Insertion 17803354
esv1501218 CNV Insertion 17803354

Relevant External Links for SLC6A12 Gene

HapMap Linkage Disequilibrium report
SLC6A12
Human Gene Mutation Database (HGMD)
SLC6A12

Disorders for SLC6A12 Gene

(1) MalaCards Diseases for SLC6A12 Gene

Search for SLC6A12 Gene in MalaCards »

Relevant External Links for SLC6A12

Genetic Association Database (GAD)
SLC6A12
Human Genome Epidemiology (HuGE) Navigator
SLC6A12
genes like me logo Genes that share disorders with SLC6A12: view

No data available for UniProtKB/Swiss-Prot for SLC6A12 Gene

Publications for SLC6A12 Gene

  1. Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. (PMID: 7589472) Rasola A. … Bagnasco S. (FEBS Lett. 1995) 2 3 4 23
  2. Cloning and expression of a betaine/GABA transporter from human brain. (PMID: 7861179) Borden L.A. … Weinshank R.L. (J. Neurochem. 1995) 3 4 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 49
  5. Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population. (PMID: 20597903) Pasaje C.F. … Shin H.D. (Ann. Hum. Genet. 2010) 3 49

Products for SLC6A12 Gene

Sources for SLC6A12 Gene

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