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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
  • Gene Overview
    MyGene.info: SLC6A8
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:73673150-73682502 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.38 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    13 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2147834
protein coding gene ChrX:73673133-73682502 (.)
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
    9
  • Human Ortholog
    SLC6A8, solute carrier family 6 member 8
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CCDS1, CRT, CRTR, CT1, CTR5
  • Links
    NCBI Gene ID: 6535
    neXtProt AC: NX_P48029
    UniProt: P48029

  • Chr Location
    Xq28; chrX:153688297-153696593 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Slc6a8 mouse models; 1 with human SLC6A8 associations

Human Disease Mouse Models
      
IDs
View 5 models
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
    8 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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
    • InterPro Domains
      IPR000175 Sodium:neurotransmitter symporter
      IPR002984 Sodium:neurotransmitter symporter, creatine
      IPR037272 Sodium:neurotransmitter symporter superfamily
    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 43
      Developmental Gene Expression 6
      Diseases 5
      Gene Ontology 7
      Phenotypes 8
    • 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:264220 Stockebrand M, et al., A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism. Front Physiol. 2018;9:773

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory