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Slc6a12 Gene Detail
Summary
  • Symbol
    Slc6a12
  • Name
    solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
  • Synonyms
    BGT1, Gabt2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95628
    NCBI Gene: 14411
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:121320035-121342734 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 57.25 cM, cytoband F1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    677 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95628
 protein coding gene Chr6:121319533-121342734 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031217
 protein coding gene Chr6:124290353-124313004 (+)
A/J MGP_AJ_G0031186
 protein coding gene Chr6:119499686-119522331 (+)
AKR/J MGP_AKRJ_G0031117
 protein coding gene Chr6:122725553-122748626 (+)
BALB/cJ MGP_BALBcJ_G0031197
 protein coding gene Chr6:119266431-119289430 (+)
C3H/HeJ MGP_C3HHeJ_G0030915
 protein coding gene Chr6:122752423-122775071 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031655
 protein coding gene Chr6:127460138-127486329 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028815
 protein coding gene Chr6:116405091-116416057 (+)
CAST/EiJ MGP_CASTEiJ_G0030304
 protein coding gene Chr6:123208080-123230703 (+)
CBA/J MGP_CBAJ_G0030880
 protein coding gene Chr6:132529601-132552486 (+)
DBA/2J MGP_DBA2J_G0031036
 protein coding gene Chr6:118390189-118413032 (+)
FVB/NJ MGP_FVBNJ_G0030988
 protein coding gene Chr6:117535637-117558557 (+)
LP/J MGP_LPJ_G0031115
 protein coding gene Chr6:124279263-124301884 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031022
 protein coding gene Chr6:136465944-136489311 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031684
 protein coding gene Chr6:122763315-122786992 (+)
PWK/PhJ MGP_PWKPhJ_G0030019
 protein coding gene Chr6:117432312-117454913 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029848
 protein coding gene Chr6:121498608-121521540 (+)
WSB/EiJ MGP_WSBEiJ_G0030387
 protein coding gene Chr6:123057592-123080152 (+)



Homology
more
  • Human Ortholog
    SLC6A12, solute carrier family 6 member 12
  • Vertebrate Orthologs
    10
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC6A12, solute carrier family 6 member 12
  • Synonyms
    BGT-1, BGT1, GAT2
  • Links
    NCBI Gene ID: 6539
    neXtProt AC: NX_P48065
    UniProt: P48065

  • Chr Location
    12p13.33; chr12:183848-214570 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Mice homozygous for a targeted allele exhibit normal seizure threshold.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    862
  • Tissues
    145
  • cDNA Data
    25
  • Literature Summary
    8
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030109 Ensembl Gene Model | MGI Sequence Detail 22700 C57BL/6J ±  kb
transcript ENSMUST00000032200 Ensembl | MGI Sequence Detail 2644 Not Applicable  
polypeptide ENSMUSP00000032200 Ensembl | MGI Sequence Detail 628 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000015178 sodium- and chloride-dependent betaine transporter
    (term hierarchy)
  • InterPro Domains
    IPR000175 Sodium:neurotransmitter symporter
    IPR002983 Sodium:neurotransmitter symporter, betaine
    IPR037272 Sodium:neurotransmitter symporter superfamily
  • GlyGen
    P31651 2 sites
Molecular
Reagents
less
  • All nucleic 28
    cDNA 25
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-9948
References
more
  • Summaries
    All 44
    Developmental Gene Expression 8
    Gene Ontology 8
    Phenotypes 8
  • Earliest
    J:2236 Lopez-Corcuera B, et al., Expression of a mouse brain cDNA encoding novel gamma-aminobutyric acid transporter. J Biol Chem. 1992 Sep 5;267(25):17491-3
  • Latest
    J:312368 Imbard A, et al., Liver and brain differential expression of one-carbon metabolism genes during ontogenesis. Sci Rep. 2021 Oct 26;11(1):21132
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory