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SLC6A8 Gene

protein-coding   GIFtS: 65
GCID: GC0XP152953

Solute Carrier Family 6 (Neurotransmitter Transporter),...

(Previous names: solute carrier family 6 (neurotransmitter transporter, creatine),...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 81 2     CRTR2 5
Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 81 2     Creatine Transporter1
Creatine Transporter 12 3     CRT2
Solute Carrier Family 6 Member 82 3     Creatine Transporter SLC6A82
CT12 3     Sodium- And Chloride-Dependent Creatine Transporter 12
CCDS12 5     

External Ids:    HGNC: 110551   Entrez Gene: 65352   Ensembl: ENSG000001308217   OMIM: 3000365   UniProtKB: P480293   

Export aliases for SLC6A8 gene to outside databases

Previous GC identifers: GC0XP147090 GC0XP149408 GC0XP150539 GC0XP151421 GC0XP152301 GC0XP152433 GC0XP152606 GC0XP141612


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC6A8 Gene:
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out
of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2008)

GeneCards Summary for SLC6A8 Gene:
SLC6A8 (solute carrier family 6 (neurotransmitter transporter), member 8) is a protein-coding gene. Diseases associated with SLC6A8 include creatine deficiency syndromes, and creatine transporter deficiency. GO annotations related to this gene include neurotransmitter:sodium symporter activity and creatine transmembrane transporter activity. An important paralog of this gene is SLC6A6.

UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
Function: Required for the uptake of creatine in muscles and brain

Gene Wiki entry for SLC6A8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC6A8 gene promoter:
         E2F-3a   Sp1   E2F   E2F-1   E2F-2   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A8 promoter sequence
   Search Chromatin IP Primers for SLC6A8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC6A8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

SLC6A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A8 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP152953:  view genomic region     (about GC identifiers)

Start:
152,953,554 bp from pter      End:
152,962,048 bp from pter
Size:
8,495 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent creatine transporter 1  
Size: 635 amino acids; 70523 Da
Secondary accessions: B2KY47 B4DIA3 E9PFC0 Q13032 Q66I36
Alternative splicing: 4 isoforms:  P48029-1   P48029-2   P48029-3   P48029-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC6A8: NX_P48029

Explore proteomics data for SLC6A8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn192, Asn197, Asn548
  • Modification sites at PhosphoSitePlus

  • See SLC6A8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001136277.1  NP_001136278.1  NP_005620.1  

    ENSEMBL proteins: 
     ENSP00000253122   ENSP00000403041   ENSP00000404046   ENSP00000400463   ENSP00000403682  
     ENSP00000394742  
    Reactome Protein details: P48029

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: CT1
    GABA transporter subfamily

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002984 Na/ntran_symport_creatine

    Graphical View of Domain Structure for InterPro Entry P48029

    ProtoNet protein and cluster: P48029

    1 Blocks protein domain: IPB002984 Creatine transporter signature

    UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily


    SLC6A8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC6A8_HUMAN, P48029
    Function: Required for the uptake of creatine in muscles and brain

         Genatlas biochemistry entry for SLC6A8:
    solute carrier family 6,member A8,neurotransmitter transporter,creatine

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005308creatine transmembrane transporter activity NAS8661037
    GO:0005309creatine:sodium symporter activity IEA--
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0015220choline transmembrane transporter activity IEA--
         
    SLC6A8 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc6a8):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  no phenotypic analysis 

    SLC6A8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC6A8
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC6A8
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    miRNA
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    miRTarBase miRNAs that target SLC6A8:
    hsa-mir-92a-3p (MIRT049670), hsa-mir-320a (MIRT044490), hsa-mir-877-3p (MIRT036805), hsa-mir-196a-5p (MIRT048259), hsa-mir-484 (MIRT041648)

    Block miRNA regulation of human, mouse, rat SLC6A8 using miScript Target Protectors
    39 qRT-PCR Assays for microRNAs that regulate SLC6A8 (see first 8):
    hsa-miR-19b-2* hsa-miR-300 hsa-miR-138-2* hsa-miR-519a hsa-miR-149 hsa-miR-654-5p hsa-miR-3148 hsa-miR-374b*
    hsa-miR-3163 hsa-miR-3688-3p hsa-miR-320d hsa-miR-3689a-5p hsa-miR-381 hsa-miR-519c-3p hsa-miR-519b-3p hsa-miR-19b
    hsa-miR-3145-3p hsa-miR-541 hsa-miR-3689b hsa-miR-320a hsa-miR-185* hsa-miR-137 hsa-miR-4299 hsa-miR-340
    hsa-miR-483-3p hsa-miR-3662 hsa-miR-3119 hsa-miR-548c-3p hsa-miR-3153 hsa-miR-31* hsa-miR-3689e hsa-miR-135b
    hsa-miR-320b hsa-miR-19b-1* hsa-miR-19a* hsa-miR-138 hsa-miR-9* hsa-miR-19a hsa-miR-135a
    SwitchGear 3'UTR luciferase reporter plasmidSLC6A8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC6A8

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC6A8
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SC6A8_HUMAN, P48029: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IEA--
    GO:0016021integral component of membrane TAS7953292

    SLC6A8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC6A8 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Creatine metabolism0.00
    2Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC6A8
        Creatine metabolism



    SLC6A8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC6A8
    Interactions:

        Search GeneGlobe Interaction Network for SLC6A8

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SLC6A8 (P480293 ENSP000002531224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD59P139873, ENSP000003402104I2D: score=2 STRING: ENSP00000340210
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600creatine metabolic process TAS--
    GO:0006810transport TAS7953292
    GO:0006836neurotransmitter transport ----
    GO:0006936muscle contraction TAS8661155
    GO:0008150biological_process ND--

    SLC6A8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC6A8 (SC6A8)

    2 HMDB Compounds for SLC6A8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC6A8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Creatine(alpha-Methylguanido)acetic acid (see all 6)57-00-1target--16949212 17486546 16763899 16849631 17385170

    3 Novoseek inferred chemical compound relationships for SLC6A8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanidinoacetate 89 3 12597058 (1), 17385170 (1), 18652072 (1)
    creatinine 60.8 28 12597058 (2), 16738945 (2), 17603797 (2), 11898126 (2) (see all 10)
    arginine 35.3 1 18258176 (1)



    SLC6A8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC6A8 gene (3 alternative transcripts): 
    NM_001142805.1  NM_001142806.1  NM_005629.3  

    Unigene Cluster for SLC6A8:

    Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
    Hs.540696  [show with all ESTs]
    Unigene Representative Sequence: L31409
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253122(uc004fib.3 uc004fic.3 uc011myx.1 uc010nuj.2)
    ENST00000476466 ENST00000430077(uc010nui.1) ENST00000466243 ENST00000467402
    ENST00000429147 ENST00000485324 ENST00000413787 ENST00000442457 ENST00000457723

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC6A8 (see all 39):
    hsa-miR-19b-2* hsa-miR-300 hsa-miR-138-2* hsa-miR-519a hsa-miR-149 hsa-miR-654-5p hsa-miR-3148 hsa-miR-374b*
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    Additional mRNA sequence: 

    AB209704.1 AK295495.1 AK309060.1 BC012355.1 BC081558.1 BC128089.1 L31409.1 U17986.1 

    11 DOTS entries:

    DT.208191  DT.121313457  DT.101960135  DT.95122312  DT.121313424  DT.121317745  DT.91770795  DT.95155614 
    DT.97777592  DT.121313459  DT.91747644 

    Selected AceView cDNA sequences (see all 420):

    AI335818 BM771864 BF526534 T29261 BQ674267 BM716162 AI083912 CA436721 
    BM771219 BI087302 BM469011 BE385025 BQ427669 BQ678934 AA903204 AI188573 
    BM850692 BM719707 AW451419 AI346743 BM469148 BU631543 BU622801 BM747315 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC6A8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTTTCCA
    SLC6A8 Expression
    About this image


    SLC6A8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
    SLC6A8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC6A8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.540696

    UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
    Tissue specificity: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon,
    testis and prostate

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC6A8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a81 , 5 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 less1, 5 91.97(n)1
    98.9(a)1
      X (37.38 cM)5
    1028571  NM_001142809.11  NP_001136281.11 
     736731505 
    chicken
    (Gallus gallus)
    Aves SLC6A86
    solute carrier family 6 (neurotransmitter transpor...
    72(a)
    1 ↔ 1
    12(11575288-11580696)
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A86
    solute carrier family 6 (neurotransmitter transpor...
    85(a)
    1 ↔ 1
    2(86877658-86918354)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004899091 sodium- and chloride-dependent creatine transporter 1-like less 73.46(n)
    78.61(a)
      100489909  XM_004916693.1  XP_004916750.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.167702 Transcribed sequence with weak similarity to protein spP48029 (H.sapiens) S6A8_HUMAN Sodium- and chloride-dependent creatine transporter 1 (CT1) less 75.91(n)    BI472886.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17323 GABA:sodium symporter 51(a)
    (best of 8)
      102C2   --
    worm
    (Caenorhabditis elegans)
    Secernentea snf-113 Na(+)/Cl(-)-dependent GABA transporter 47(a)
    (best of 7)
      V(11307950-11311658)   --


    ENSEMBL Gene Tree for SLC6A8 (if available)
    TreeFam Gene Tree for SLC6A8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC6A8 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A52  SLC6A142  SLC6A32  SLC6A12  SLC6A42  
    SLC6A132  SLC6A22  SLC6A72  SLC6A92  
    18 SIMAP similar genes for SLC6A8 using alignment to 6 protein entries:     SC6A8_HUMAN (see all proteins):
    SLC6A6    SLC6A12    SLC6A11    SLC6A1    SLC6A4    SLC6A13
    SLC6A3    SLC6A9    SLC6A2    SLC6A7    SLC6A5    SLC6A14
    SLC6A15    SLC6A20    DKFZp761I0921    SLC6A17    SLC6A19    SLC6A18

    SLC6A8 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for SLC6A8 (see all 9)
    PGOHUM00000262930 PGOHUM00000262931 PGOHUM00000262939 PGOHUM00000262334 PGOHUM00000259130


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC6A8 (see all 291)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637094
    Cerebral creatine deficiency syndrome 1 (CCDS1)4--see VAR_0637092 C W mis40--------
    VAR_0205274
    Cerebral creatine deficiency syndrome 1 (CCDS1)4--see VAR_0205272 P L mis40--------
    VAR_0205264
    Cerebral creatine deficiency syndrome 1 (CCDS1)4--see VAR_0205262 G R mis40--------
    VAR_0205294
    Cerebral creatine deficiency syndrome 1 (CCDS1)4--see VAR_0205292 P L mis40--------
    VAR_0637074
    Cerebral creatine deficiency syndrome 1 (CCDS1)4--see VAR_0637072 G V mis40--------
    VAR_0637084
    Cerebral creatine deficiency syndrome 1 (CCDS1)4--see VAR_0637082 C W mis40--------
    VAR_0205254
    Cerebral creatine deficiency syndrome 1 (CCDS1)4--see VAR_0205252 G R mis40--------
    rs1224531181,2
    Cpathogenic1152959879(+) GAGTGC/G/TGTGGT 12 C W mis10--------
    rs1874536271,2
    --152951771(+) TCTCTC/GCCTTC 4 -- us2k10--------
    rs22668641,2
    H--152951912(+) TCACGC/TGCCCA 4 -- us2k11Minor allele frequency- T:0.00NS 120

    HapMap Linkage Disequilibrium report for SLC6A8 (152953554 - 152962048 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC6A8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1003299CNV Gain20482838
    esv33199CNV Gain+Loss17666407
    esv21656CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): SLC6A8
    Locus Specific Mutation Databases (LSDB): SLC6A8

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC6A8
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300036   
    OMIM disorders: 300352  
    UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
  • Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]: An X-linked disorder of creatine transport
    characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females
    may show mild neuropsychologic impairment. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 19 diseases for SLC6A8:    
    About MalaCards
    creatine deficiency syndromes    creatine transporter deficiency    x-linked creatine deficiency    slc6a8-related creatine transporter deficiency
    ornithine translocase deficiency    agat deficiency    fragile x syndrome    hypotonia
    autism spectrum disorder    intellectual disability    short stature    male infertility
    sepsis    mental retardation    infertility    cerebritis
    multiple myeloma    myeloma    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for SLC6A8:
    AGAT deficiency     Intellectual disability     Ornithine translocase deficiency

    SLC6A8 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SLC6A8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 60.6 10 16738945 (2), 11898126 (2), 12597058 (1), 18515020 (1) (see all 5)
    epilepsy 33.2 3 18515020 (1)

    GeneTests: SLC6A8
    GeneReviews: SLC6A8
    Genetic Association Database (GAD): SLC6A8
    Human Genome Epidemiology (HuGE) Navigator: SLC6A8 (3 documents)

    Export disorders for SLC6A8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC6A8 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with SLC6A8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. (PubMed id 16738945)1, 4, 9 Clark A.J....Salomons G.S. (Hum. Genet. 2006)
    2. Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. (PubMed id 18515020)1, 2, 9 Martinez-Munoz C.... Salomons G.S. (Gene 2008)
    3. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (PubMed id 11898126)1, 2, 9 Hahn K.A.... Schwartz C.E. (Am. J. Hum. Genet. 2002)
    4. Screening of male patients with autism spectrum disorder for creatine transporter deficiency. (PubMed id 18461508)1, 4 Newmeyer A....Salomons G. (Neuropediatrics 2007)
    5. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (PubMed id 17101918)1, 2 Lion-Francois L.... des Portes V. (Neurology 2006)
    6. High prevalence of SLC6A8 deficiency in X-linked mental retardation. (PubMed id 15154114)1, 2 Rosenberg E.H.... Salomons G.S. (Am. J. Hum. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (PubMed id 12210795)1, 2 Bizzi A.... Uziel G. (Ann. Neurol. 2002)
    9. The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. (PubMed id 8661155)1, 2 Sandoval N....Platzer M. (Genomics 1996)
    10. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. (PubMed id 7774949)1, 3 Gregor P....Warren S.T. (Genomics 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6535 HGNC: 11055 AceView: SLC6A8 Ensembl:ENSG00000130821 euGenes: HUgn6535
    ECgene: SLC6A8 H-InvDB: SLC6A8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC6A8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC6A8[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC6A8 gene:
    Search GeneIP for patents involving SLC6A8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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