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Aliases for SLC6A12 Gene

Aliases for SLC6A12 Gene

  • Solute Carrier Family 6 Member 12 2 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 12 2 3 5
  • 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
  • Gamma-Aminobutyric Acid Transporter 3
  • BGT1 3
  • GAT2 3

External Ids for SLC6A12 Gene

Previous GeneCards Identifiers for SLC6A12 Gene

  • GC12M000153
  • GC12M000299

Summaries for SLC6A12 Gene

GeneCards Summary for SLC6A12 Gene

SLC6A12 (Solute Carrier Family 6 Member 12) is a Protein Coding gene. Diseases associated with SLC6A12 include traumatic glaucoma and spinocerebellar ataxia 11. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 have been identified and localized to neurons and glia.

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

Regulatory Elements for SLC6A12 Gene

Promoters for SLC6A12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC6A12 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SLC6A12 Gene

Chromosome:
12
Start:
187,458 bp from pter
End:
214,570 bp from pter
Size:
27,113 bases
Orientation:
Minus strand

Genomic View for SLC6A12 Gene

Genes around SLC6A12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A12 Gene

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

  • Glycosylation at Asn 171 and Asn 183
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC6A12 Gene

Domains & Families for SLC6A12 Gene

Gene Families for SLC6A12 Gene

HGNC:
IUPHAR :

Protein Domains for SLC6A12 Gene

Suggested Antigen Peptide Sequences for SLC6A12 Gene

Graphical View of Domain Structure for InterPro Entry

P48065

UniProtKB/Swiss-Prot:

S6A12_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A12 subfamily.
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:0005515 protein binding IPI 25416956
GO:0015171 amino acid transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC6A12: view
genes like me logo Genes that share phenotypes with SLC6A12: view

Animal Models for SLC6A12 Gene

MGI Knock Outs for SLC6A12:

Animal Model Products

CRISPR Products

miRNA for SLC6A12 Gene

miRTarBase miRNAs that target SLC6A12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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 5
cytosol 2
extracellular 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC6A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043005 neuron projection IBA --
genes like me logo Genes that share ontologies with SLC6A12: view

Pathways & Interactions 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:0003333 amino acid transmembrane transport TAS --
GO:0006810 transport TAS 7861179
GO:0006811 ion transport TAS --
GO:0009992 cellular water homeostasis IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC6A12: view

No data available for SIGNOR curated interactions for SLC6A12 Gene

Drugs & Compounds for SLC6A12 Gene

(8) Drugs for SLC6A12 Gene - From: DGIdb, IUPHAR, Novoseek, DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guvacine Experimental Pharma Target, inhibitor 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
(R/S) EF-1500 Pharma Inhibition, Inhibitor 0
Betaine Pharma 32
(R)-EF-1520 Pharma 0

(12) Additional Compounds for SLC6A12 Gene - From: IUPHAR, Tocris, HMDB, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R/S)-EF-1502
Inhibition, Inhibitor
LU32-176B
Inhibition, Inhibitor
NNC052090
Inhibition, Inhibitor
sodium
  • Sodium
  • Sodium ion
7440-23-5
(+-)-Nipecotic acid
60252-41-7
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 (x11.4), Liver (x5.4), and Brain - Putamen (basal ganglia) (x4.7).

Protein differential expression in normal tissues from HIPED for SLC6A12 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with SLC6A12: view

Protein tissue co-expression partners for SLC6A12 Gene

Primer Products

In Situ Assay Products

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 (a)
OneToOne
SLC6A12 35
  • 99.13 (n)
  • 98.69 (a)
cow
(Bos Taurus)
Mammalia SLC6A12 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A12 36
  • 91 (a)
OneToOne
SLC6A12 35
  • 89.2 (n)
  • 91.37 (a)
mouse
(Mus musculus)
Mammalia Slc6a12 16
Slc6a12 36
  • 86 (a)
OneToOne
Slc6a12 35
  • 85.99 (n)
  • 87.79 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC6A12 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a12 35
  • 85.02 (n)
  • 86.64 (a)
chicken
(Gallus gallus)
Aves SLC6A13 35
  • 72.3 (n)
  • 73.34 (a)
SLC6A12 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A12 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492029 35
  • 71.07 (n)
  • 73.37 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.25768 35
slc6a11a 36
  • 58 (a)
OneToMany
SLC6A12 (3 of 8) 36
  • 55 (a)
OneToMany
SLC6A12 (4 of 8) 36
  • 54 (a)
OneToMany
SLC6A12 (5 of 8) 36
  • 55 (a)
OneToMany
SLC6A12 (7 of 8) 36
  • 54 (a)
OneToMany
SLC6A12 (8 of 8) 36
  • 54 (a)
OneToMany
slc6a13 36
  • 62 (a)
OneToMany
slc6a13l 36
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS03431.1 37
  • 35 (a)
CG10804 37
  • 36 (a)
CG1732 37
  • 53 (a)
CG4476 37
  • 35 (a)
CG5549 37
  • 41 (a)
CG7075 37
  • 35 (a)
CG8850 37
  • 36 (a)
ine 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-1 37
  • 24 (a)
snf-11 37
  • 48 (a)
snf-12 37
  • 31 (a)
snf-2 37
  • 31 (a)
snf-3 37
  • 42 (a)
snf-4 37
  • 33 (a)
snf-6 37
  • 30 (a)
snf-8 37
  • 24 (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
rs557881 - 209,959(-) AAGAG(C/T)GTGGG reference, missense
rs216245 -- 201,253(+) AGAGA(A/G/T)TACAG intron-variant
rs216246 -- 201,300(+) GCACA(C/G)GTAAT intron-variant
rs216247 -- 201,405(+) GCTAC(C/T)GGCAT intron-variant
rs495655 -- 189,616(+) CCTTG(A/T)CCCAG intron-variant, downstream-variant-500B

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

Variation tolerance for SLC6A12 Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A12 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A12 Gene

Disorders for SLC6A12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC6A12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
traumatic glaucoma
  • glaucoma associated with ocular trauma
spinocerebellar ataxia 11
  • spinocerebellar ataxia type 11
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC6A12

Genetic Association Database (GAD)
SLC6A12
Human Genome Epidemiology (HuGE) Navigator
SLC6A12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A12
genes like me logo Genes that share disorders with SLC6A12: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Gamma-aminobutyric acid transporter (BGT-1) expressed in human astrocytoma U373 MG cells: pharmacological and molecular characterization and phorbol ester-induced inhibition. (PMID: 12111824) Ruiz-TachiquA-n M.E. … Ortega A. (J. Neurosci. Res. 2002) 3 25
  3. Cloning and expression of a betaine/GABA transporter from human brain. (PMID: 7861179) Borden L.A. … Weinshank R.L. (J. Neurochem. 1995) 3 23
  4. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for SLC6A12 Gene

Sources for SLC6A12 Gene

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