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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
Location & Maps
more
  • Sequence Map
    ChrX:73673150-73682502 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9353 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.38 cM
  • Mapping Data
    3 experiments
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
  • Synonyms
    CCDS1, CRT, CRTR, CT1, CTR5
  • Links
    NCBI Gene ID: 6535
    neXtProt AC: NX_P48029

  • Chr Location
    Xq28; chrX:153688297-153696593 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Cerebral Creatine Deficiency Syndrome 1; CCDS1   OMIM: 300352 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    5 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.
  • All Mutations and Alleles
    6
  • Gene trapped
    1
  • Targeted
    5
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017696 VEGA Gene Model | MGI Sequence Detail 9353 C57BL/6J ±  kb
transcript OTTMUST00000042894 VEGA | MGI Sequence Detail 3964 Not Applicable  
polypeptide OTTMUSP00000019279 VEGA | MGI Sequence Detail 640 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    13 from dbSNP Build 142
  • RFLP
Protein
Information
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  • 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
Molecular
Reagents
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  • All nucleic 110
    cDNA 108
    Primer pair 2

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-2133, MGI:88493
References
more
  • Summaries
    All 38
    Developmental Gene Expression 5
    Diseases 2
    Gene Ontology 6
    Phenotypes 5
  • 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:204566 Gendrel AV, et al., Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Mol Cell Biol. 2013 Aug;33(16):3150-65

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
06/22/2016
MGI 6.04
The Jackson Laboratory