Human Gene SLC6A8 (ENST00000253122.10_4) from GENCODE V47lift37
  Description: solute carrier family 6 member 8, transcript variant 1 (from RefSeq NM_005629.4)
Gencode Transcript: ENST00000253122.10_4
Gencode Gene: ENSG00000130821.17_11
Transcript (Including UTRs)
   Position: hg19 chrX:152,953,381-152,962,043 Size: 8,663 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chrX:152,954,030-152,960,669 Size: 6,640 Coding Exon Count: 13 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:152,953,381-152,962,043)mRNA (may differ from genome)Protein (635 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  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


-  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 -348.90649-0.538 Picture PostScript Text
3' UTR -502.601374-0.366 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
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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.
JD126229 - Sequence 107253 from Patent EP1572962.
MA447100 - JP 2018138019-A/19026: Polycomb-Associated Non-Coding RNAs.
JD462772 - Sequence 443796 from Patent EP1572962.
JD458477 - Sequence 439501 from Patent EP1572962.
JD128979 - Sequence 110003 from Patent EP1572962.
JD271279 - Sequence 252303 from Patent EP1572962.
JD458430 - Sequence 439454 from Patent EP1572962.
JD056223 - Sequence 37247 from Patent EP1572962.
JD128940 - Sequence 109964 from Patent EP1572962.
JD056226 - Sequence 37250 from Patent EP1572962.
JD458471 - Sequence 439495 from Patent EP1572962.
JD477931 - Sequence 458955 from Patent EP1572962.
JD152420 - Sequence 133444 from Patent EP1572962.
JD406037 - Sequence 387061 from Patent EP1572962.
JD129438 - Sequence 110462 from Patent EP1572962.
JD142243 - Sequence 123267 from Patent EP1572962.
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.
JD210760 - Sequence 191784 from Patent EP1572962.
JD201042 - Sequence 182066 from Patent EP1572962.
JD255885 - Sequence 236909 from Patent EP1572962.
JD184489 - Sequence 165513 from Patent EP1572962.
LF380735 - JP 2014500723-A/188238: Polycomb-Associated Non-Coding RNAs.
LF380736 - JP 2014500723-A/188239: Polycomb-Associated Non-Coding RNAs.
JD513132 - Sequence 494156 from Patent EP1572962.
JD399861 - Sequence 380885 from Patent EP1572962.
JD565770 - Sequence 546794 from Patent EP1572962.
LF380738 - JP 2014500723-A/188241: Polycomb-Associated Non-Coding RNAs.
JD313651 - Sequence 294675 from Patent EP1572962.
JD507780 - Sequence 488804 from Patent EP1572962.
LF380739 - JP 2014500723-A/188242: Polycomb-Associated Non-Coding RNAs.
JD121584 - Sequence 102608 from Patent EP1572962.
JD121585 - Sequence 102609 from Patent EP1572962.
JD115685 - Sequence 96709 from Patent EP1572962.
JD320660 - Sequence 301684 from Patent EP1572962.
JD375844 - Sequence 356868 from Patent EP1572962.
JD099619 - Sequence 80643 from Patent EP1572962.
JD423775 - Sequence 404799 from Patent EP1572962.
MA616306 - JP 2018138019-A/188232: Polycomb-Associated Non-Coding RNAs.
MA616312 - JP 2018138019-A/188238: Polycomb-Associated Non-Coding RNAs.
MA616313 - JP 2018138019-A/188239: Polycomb-Associated Non-Coding RNAs.
MA616315 - JP 2018138019-A/188241: Polycomb-Associated Non-Coding RNAs.
MA616316 - JP 2018138019-A/188242: Polycomb-Associated Non-Coding RNAs.
JD054832 - Sequence 35856 from Patent EP1572962.
JD365576 - Sequence 346600 from Patent EP1572962.
JD054363 - Sequence 35387 from Patent EP1572962.
LF380741 - JP 2014500723-A/188244: Polycomb-Associated Non-Coding RNAs.
JD073913 - Sequence 54937 from Patent EP1572962.
JD481690 - Sequence 462714 from Patent EP1572962.
JD481691 - Sequence 462715 from Patent EP1572962.
JD471319 - Sequence 452343 from Patent EP1572962.
JD178120 - Sequence 159144 from Patent EP1572962.
JD064128 - Sequence 45152 from Patent EP1572962.
JD471736 - Sequence 452760 from Patent EP1572962.
LF380742 - JP 2014500723-A/188245: Polycomb-Associated Non-Coding RNAs.
JD197405 - Sequence 178429 from Patent EP1572962.
LF380743 - JP 2014500723-A/188246: Polycomb-Associated Non-Coding RNAs.
LF380744 - JP 2014500723-A/188247: Polycomb-Associated Non-Coding RNAs.
JD266797 - Sequence 247821 from Patent EP1572962.
JD180796 - Sequence 161820 from Patent EP1572962.
JD282287 - Sequence 263311 from Patent EP1572962.
JD049840 - Sequence 30864 from Patent EP1572962.
JD362657 - Sequence 343681 from Patent EP1572962.
JD374105 - Sequence 355129 from Patent EP1572962.
JD043862 - Sequence 24886 from Patent EP1572962.
JD065956 - Sequence 46980 from Patent EP1572962.
JD116048 - Sequence 97072 from Patent EP1572962.
JD496839 - Sequence 477863 from Patent EP1572962.
JD253379 - Sequence 234403 from Patent EP1572962.
JD438017 - Sequence 419041 from Patent EP1572962.
LF380745 - JP 2014500723-A/188248: Polycomb-Associated Non-Coding RNAs.
MA616318 - JP 2018138019-A/188244: Polycomb-Associated Non-Coding RNAs.
MA616319 - JP 2018138019-A/188245: Polycomb-Associated Non-Coding RNAs.
MA616320 - JP 2018138019-A/188246: Polycomb-Associated Non-Coding RNAs.
MA616321 - JP 2018138019-A/188247: Polycomb-Associated Non-Coding RNAs.
MA616322 - JP 2018138019-A/188248: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000253122.1, ENST00000253122.2, ENST00000253122.3, ENST00000253122.4, ENST00000253122.5, ENST00000253122.6, ENST00000253122.7, ENST00000253122.8, ENST00000253122.9, NM_005629, SLC6A8 , uc317fki.1, uc317fki.2, X5D9C4, X5D9C4_HUMAN
UCSC ID: ENST00000253122.10_4
RefSeq Accession: NM_005629.4

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

-  Gene Model Information
  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.