Human Gene SLC6A8 (uc010nui.1)
  Description: Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 3, mRNA.
RefSeq Summary (NM_001142806): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:152,955,814-152,958,247 Size: 2,434 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chrX:152,955,913-152,957,961 Size: 2,049 Coding Exon Count: 3 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:152,955,814-152,958,247)mRNA (may differ from genome)Protein (276 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneCardsH-INVHGNCHuman Cortex Gene Expression
LynxMalacardsMGIPubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC6A8
CDC HuGE Published Literature: SLC6A8

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC6A8
Diseases sorted by gene-association score: cerebral creatine deficiency syndrome 1* (1591), creatine deficiency syndromes* (120), slc6a8-related creatine transporter deficiency* (100), cerebral creatine deficiency syndrome (29), cerebral creatine deficiency syndrome 2 (10), cerebral creatine deficiency syndrome 3 (10), hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (8), amino acid metabolic disorder (4), autism spectrum disorder (2), specific developmental disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.41 RPKM in Heart - Left Ventricle
Total median expression: 1132.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.0399-0.263 Picture PostScript Text
3' UTR -118.40286-0.414 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF211523 - JP 2014500723-A/19026: Polycomb-Associated Non-Coding RNAs.
L31409 - Homo sapiens creatine transporter mRNA, complete cds.
BC081558 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8, mRNA (cDNA clone MGC:87396 IMAGE:4823748), complete cds.
MA447100 - JP 2018138019-A/19026: Polycomb-Associated Non-Coding RNAs.
AB209704 - Homo sapiens mRNA for solute carrier family 6 (neurotransmitter transporter, creatine), member 8 variant protein.
S74039 - Homo sapiens creatine transporter (creatine transporter, hCRT-BS2M) mRNA, complete cds.
BC012355 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8, mRNA (cDNA clone MGC:20403 IMAGE:4634609), complete cds.
DQ892306 - Synthetic construct clone IMAGE:100004936; FLH185069.01X; RZPDo839E11146D solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8) gene, encodes complete protein.
DQ895505 - Synthetic construct Homo sapiens clone IMAGE:100009965; FLH185065.01L; RZPDo839E11145D solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8) gene, encodes complete protein.
KJ534942 - Homo sapiens clone SLC6A8_iso-D_adult-A01 solute carrier family 6 member 8 isoform D (SLC6A8) mRNA, partial cds, alternatively spliced.
KJ534943 - Homo sapiens clone SLC6A8_iso-A_adult-A04 solute carrier family 6 member 8 isoform A (SLC6A8) mRNA, partial cds, alternatively spliced.
KJ534944 - Homo sapiens clone SLC6A8_iso-B_fetal-F05 solute carrier family 6 member 8 isoform B (SLC6A8) mRNA, partial cds, alternatively spliced.
KJ534945 - Homo sapiens clone SLC6A8_iso-C_fetal-F11 solute carrier family 6 member 8 isoform C (SLC6A8) mRNA, partial cds, alternatively spliced.
AK295495 - Homo sapiens cDNA FLJ51860 complete cds, highly similar to Sodium-and chloride-dependent creatinetransporter 1.
AK309060 - Homo sapiens cDNA, FLJ99101.
JD239175 - Sequence 220199 from Patent EP1572962.
JD497194 - Sequence 478218 from Patent EP1572962.
JD420355 - Sequence 401379 from Patent EP1572962.
JD541082 - Sequence 522106 from Patent EP1572962.
JD432841 - Sequence 413865 from Patent EP1572962.
LF380729 - JP 2014500723-A/188232: Polycomb-Associated Non-Coding RNAs.
KC800563 - Homo sapiens creatine transporter SLC6A8 variant D (SLC6A8) mRNA, complete cds, alternatively spliced.
EU280316 - Homo sapiens creatine transporter SLC6A8 splice variant C (SLC6A8) mRNA, complete cds, alternatively spliced.
U17986 - Human GABA/noradrenaline transporter mRNA, complete cds.
LF380730 - JP 2014500723-A/188233: Polycomb-Associated Non-Coding RNAs.
MA616306 - JP 2018138019-A/188232: Polycomb-Associated Non-Coding RNAs.
MA616307 - JP 2018138019-A/188233: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AK309060
UCSC ID: uc010nui.1
RefSeq Accession: NM_001142806

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC6A8:
creatine (Creatine Deficiency Disorders)
dystonia-ov (Hereditary Dystonia Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK309060.1
exon count: 3CDS single in 3' UTR: no RNA size: 1216
ORF size: 831CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1591.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 701# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.