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Slc6a8 Gene Detail
Summary
  • Symbol
    Slc6a8
  • Name
    solute carrier family 6 (neurotransmitter transporter, creatine), member 8
  • Synonyms
    Creat, CRT
  • Feature Type
    protein coding gene
  • IDs
    MGI:2147834
    NCBI Gene: 102857
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:72716756-72726108 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.38 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    157 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2147834
 protein coding gene ChrX:72716739-72726108 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035815
 protein coding gene ChrX:69443121-69452450 (+)
A/J MGP_AJ_G0035796
 protein coding gene ChrX:69642052-69651410 (+)
AKR/J MGP_AKRJ_G0035721
 protein coding gene ChrX:71449894-71459253 (+)
BALB/cJ MGP_BALBcJ_G0035781
 protein coding gene ChrX:68674502-68684365 (+)
C3H/HeJ MGP_C3HHeJ_G0035486
 protein coding gene ChrX:69915081-69925415 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036311
 protein coding gene ChrX:71574475-71585132 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033155
 protein coding gene ChrX:68679567-68688935 (+)
CAST/EiJ MGP_CASTEiJ_G0034777
 protein coding gene ChrX:55262485-55272722 (+)
CBA/J MGP_CBAJ_G0035461
 protein coding gene ChrX:73530057-73539417 (+)
DBA/2J MGP_DBA2J_G0035618
 protein coding gene ChrX:69104176-69113536 (+)
FVB/NJ MGP_FVBNJ_G0035562
 protein coding gene ChrX:68433028-68442387 (+)
LP/J MGP_LPJ_G0035703
 protein coding gene ChrX:70227533-70238314 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035600
 protein coding gene ChrX:76122858-76132214 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036333
 protein coding gene ChrX:69265457-69275640 (+)
PWK/PhJ MGP_PWKPhJ_G0034476
 protein coding gene ChrX:53277049-53286722 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034310
 protein coding gene ChrX:56170840-56180164 (+)
WSB/EiJ MGP_WSBEiJ_G0034918
 protein coding gene ChrX:68537005-68547979 (+)



Homology
more
  • Human Ortholog
    SLC6A8, solute carrier family 6 member 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC6A8, solute carrier family 6 member 8
  • Synonyms
    CCDS1, CRT, CRT-1, CRT1, CRTR, CT1, CTR5
  • Links
    NCBI Gene ID: 6535
    neXtProt AC: NX_P48029
    UniProt: P48029

  • Chr Location
    Xq28; chrX:153687926-153696593 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc6a8 mouse models; 2 with human SLC6A8 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 5 alleles in 6 genetic backgrounds
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Male mice hemizygous for a targeted allele exhibit decreased body weight, decreased creatine concentrations, impaired short term object recognition, impaired contextual conditioning, altered locomotor activity, and increased serotonine levels in the brain.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    9
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
    917
  • Tissues
    117
  • cDNA Data
    108
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019558 Ensembl Gene Model | MGI Sequence Detail 9353 C57BL/6J ±  kb
    transcript ENSMUST00000033752 Ensembl | MGI Sequence Detail 3964 Not Applicable  
    polypeptide ENSMUSP00000033752 Ensembl | MGI Sequence Detail 640 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000015192 sodium- and chloride-dependent creatine transporter 1
      (term hierarchy)
    • InterPro Domains
      IPR000175 Sodium:neurotransmitter symporter
      IPR002984 Sodium:neurotransmitter symporter, creatine
      IPR037272 Sodium:neurotransmitter symporter superfamily
    • GlyGen
      Q8VBW1 4 sites, 1 N-linked glycan (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 111
      cDNA 109
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-2133, MGI:88493
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 6
      Diseases 5
      Gene Ontology 9
      Phenotypes 23
    • Earliest
      J:19724 Nash SR, et al., Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Receptors Channels. 1994;2(2):165-74
    • Latest
      J:355290 Sugimoto C, et al., A Gad2 specific Slc6a8 deletion recapitulates the contextual and cued freezing deficits seen in Slc6a8(-/y) mice. Brain Res. 2023 Nov 28;1825:148690
    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)
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    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