SLC6A8 Gene

Aliases
for SLC6A8 gene

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

Summaries
for SLC6A8 gene

Genomic Views
for SLC6A8 gene

RefSeq DNA sequence:

NC_000023.10  NC_018934.1  NT_167198.1  

SwitchGear Promoter luciferase reporter plasmid: SLC6A8 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A8

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


GeneLoc information about chromosome X         GeneLoc Exon Structure

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

Proteins
for SLC6A8 gene

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

Post-translational modifications:

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	Novus Biologicals SLC6A8 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SLC6A8

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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	Novus Biologicals SLC6A8 Antibodies
	Search for Antibodies for SLC6A8 at Abcam
	Uscn Antibodies for SLC6A8
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	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	Uscn ELISAs and CLIAs for SLC6A8

Protein Domains /
Families
for SLC6A8 gene

ProtoNet protein and cluster: P48029

Function
for SLC6A8 gene

miRNA Products:		OriGene 3'-UTR Clone (see all 3): SLC6A8 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC6A8
		8/39 QIAGEN miScript miRNA 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*
		SwitchGear 3'UTR luciferase reporter plasmid: SLC6A8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC6A8 (see all 7) OriGene shRNA RFP: SLC6A8 OriGene siRNA: SLC6A8
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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for SLC6A8

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC6A8 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC6A8 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): SLC6A8 (NM_001142805)
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A8

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

(inferred from 3 alleles) (MGI details for Slc6a8)

Pathways & Interactions
for SLC6A8 gene

	Super-pathway	contained gene-specific pathways
1	Metabolism of amino acids and derivatives	Metabolism of amino acids and derivatives 1.00
2	Metabolism	Metabolism 1.00
3	creatine-phosphate biosynthesis	Creatine metabolism 0.38

3        Reactome Pathways for SLC6A8

	Creatine metabolism
	Metabolism
	Metabolism of amino acids and derivatives

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

Drugs & Compounds
for SLC6A8 gene

Transcripts
for SLC6A8 gene

Expression
for SLC6A8 gene

SLC6A8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCATTTTCCA

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC6A8 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC6A8
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC6A8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC6A8

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A8

Orthologs
for SLC6A8 gene

Paralogs
for SLC6A8 gene

Paralogs for SLC6A8 gene

SLC6A6²  SLC6A11²  SLC6A12²  SLC6A14²  SLC6A5²  SLC6A3²  SLC6A1²  SLC6A13²  

SLC6A4²  SLC6A7²  SLC6A2²  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


5/9 Pseudogenes.org Pseudogenes for SLC6A8 (see all 9)
PGOHUM00000262930 PGOHUM00000262931 PGOHUM00000262939 PGOHUM00000262334 PGOHUM00000259130

Genomic Variants
for SLC6A8 gene

10/205 NCBI SNPs in SLC6A8 are shown (see all 205)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1874536271,2		--	152951771(+)	TCTCTC/GCCTTC	2	--	us2k1		0	--	--	--	--
rs22668641,2	H	--	152951912(+)	TCACGC/TGCCCA	2	--	us2k1		1		NS	120
rs1478788941,2		--	152951966(+)	CGGGTA/CCTCTT	2	--	us2k1		0	--	--	--	--
rs1415081041,2		--	152952083(+)	CACTTA/CTCTAA	2	--	us2k1		0	--	--	--	--
rs22668651,2	C,H	--	152952379(+)	TTAACG/AGGATG	2	--	us2k1		5		NS EA NA	420
rs736337441,2	C,	--	152952440(+)	GAGGGA/GGGCAC	2	--	us2k1		1		WA	2
rs1910848441,2		--	152952460(+)	CCCAGA/GCCAGG	2	--	us2k1		0	--	--	--	--
rs22668661,2	C,	--	152952580(+)	TGCTAC/GGGAGG	2	--	us2k1		0	--	--	--	--
rs1828502781,2		--	152952679(+)	GCACCC/TGCCAG	2	--	us2k1		0	--	--	--	--
rs1872673411,2		--	152952709(+)	CCTTGC/TTCCCG	2	--	us2k1		0	--	--	--	--

HapMap Linkage Disequilibrium report for SLC6A8 (152953554 - 152962048 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SLC6A8
     3 CNVs: 74083 97102 74082
Human Gene Mutation Database (HGMD): SLC6A8

Locus Specific Mutation Databases (LSDB): SLC6A8

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC6A8

DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A8

Disorders / Diseases
for SLC6A8 gene

13 diseases for SLC6A8

2 Novoseek disease relationships for SLC6A8 gene    About this table

Publications
for SLC6A8 gene

PubMed articles for SLC6A8 gene, integrated from 9 sources (see all 53) (see top 10): (articles sorted by number of sources associating them with SLC6A8)

Utopia: connect your pdf to the dynamic world of online information

1. 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. (2008)
2. 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. (2002)
3. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (PubMed id 17101918)^{1, 2} Lion-Francois L.... des Portes V. (2006)
4. High prevalence of SLC6A8 deficiency in X-linked mental retardation. (PubMed id 15154114)^{1, 2} Rosenberg E.H.... Salomons G.S. (2004)
5. 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. (2004)
6. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (PubMed id 12210795)^{1, 2} Bizzi A.... Uziel G. (2002)
7. The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. (PubMed id 8661155)^{1, 2} Sandoval N....Platzer M. (1996)
8. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. (PubMed id 7774949)^{1, 3} Gregor P....Warren S.T. (1995)
9. Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family. (PubMed id 7622069)^{1, 2} Barnwell L.F.... Townsel J.G. (1995)
10. Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. (PubMed id 7953292)^{1, 2} Nash S.R.... Caron M.G. (1994)
11. The cloning and expression of a human creatine transporter. (PubMed id 7945388)^{1, 2} Sora I.... Roeske W.R. (1994)
12. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. (PubMed id 16738945)^{1, 9} Clark A.J....Salomons G.S. (2006)
13. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. (PubMed id 11326334)^{1, 9} Salomons G.S....Jakobs C. (2001)
14. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. (PubMed id 17603797)^{1, 9} Battini R....Cioni G. (2007)
15. Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28. (PubMed id 8661037)^{1, 9} Iyer G.S....Proujansky R. (1996)
16. [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease] (PubMed id 17385170)^{7, 9} Campistol J....Ribes A. (2007)
17. Detection of variants in SLC6A8 and functional analysi s of unclassified missense variants. (PubMed id 22281021)¹ Betsalel O.T....Salomons G.S. (2012)
18. Long-term follow-up and treatment in nine boys with X- linked creatine transporter defect. (PubMed id 21556832)¹ van de Kamp J.M....Mancini G.M. (2012)
19. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (2011)
20. Defining the pathogenicity of creatine deficiency synd rome. (PubMed id 21140503)¹ Alcaide P....Rodriguez-Pombo P. (2011)
21. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
22. Hybridisation-based resequencing of 17 X-linked intel lectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A 8 and PQBP1. (PubMed id 21267006)¹ Jensen L.R....Kuss A.W. (2011)
23. Molecular analysis of guanidinoacetate-n-methyltransf erase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male inferti lity. (PubMed id 21190923)¹ Iqbal F....Bodamer O. (2011)
24. Clinical features and X-inactivation in females heter ozygous for creatine transporter defect. (PubMed id 20528887)¹ van de Kamp J.M....Salomons G.S. (2011)
25. Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevan ce to creatine deficiency syndromes. (PubMed id 19879361)¹ Braissant O....Henry H. (2010)
26. Creatine transporter deficiency in two half-brothers. (PubMed id 20602486)¹ Ardon O....Longo N. (2010)
27. Treatment of intractable epilepsy in a female with SL C6A8 deficiency. (PubMed id 20846889)¹ Mercimek-Mahmutoglu S....Stockler-Ipsiroglu S. (2010)
28. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
29. Developmental changes in the expression of creatine s ynthesizing enzymes and creatine transporter in a precocial rodent, the spiny m ouse. (PubMed id 19570237)¹ Ireland Z....Snow R. (2009)
30. Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. (PubMed id 19188083)¹ Mercimek-Mahmutoglu S....Stockler-Ipsiroglu S. (2009)
31. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. (PubMed id 18443316)¹ Anselm I.A....Darras B.T. (2008)
32. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (2008)
33. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. (PubMed id 18350323)¹ Betsalel O.T....Salomons G.S. (2008)
34. Spatiotemporal expression of the creatine metabolism related genes agat, gamt and ct1 during zebrafish embryogenesis. (PubMed id 17486546)⁷ Wang L....Zhang H. (2007)
35. Screening of male patients with autism spectrum disorder for creatine transporter deficiency. (PubMed id 18461508)¹ Newmeyer A....Salomons G. (2007)
36. The creatine transporter mediates the uptake of creat ine by brain tissue, but not the uptake of two creatine-derived compounds. (PubMed id 16949212)⁷ Lunardi G....Balestrino M. (2006)
37. Overexpression of wild-type creatine transporter (SLC 6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts. (PubMed id 16763899)⁷ Rosenberg E.H....Salomons G.S. (2006)
38. Electrolysis stimulates creatine transport and transp orter cell surface expression in incubated mouse skeletal muscle: potential rol e of ROS. (PubMed id 16849631)⁷ Derave W....Hespel P. (2006)
39. The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (2005)
40. Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3. (PubMed id 16036218)¹ Shojaiefard M....Lang F. (2005)
41. Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway. (PubMed id 16049011)¹ Dodd J.R. and Christie D.L. (2005)
42. X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. (PubMed id 16086185)¹ Schiaffino M.C....Bonioli E. (2005)
43. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
44. Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation. (PubMed id 15338463)¹ Mandel J.L. (2004)
45. Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis. (PubMed id 12219031)¹ Wang W....Jacobs D.O. (2002)
46. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
47. Large-scale methylation analysis of human genomic DNA reveals tissue- specific differences between the methylation profiles of genes and pseudogenes. (PubMed id 11063724)¹ Grunau C.... Rosenthal A. (2000)
48. Creatine and creatinine metabolism. (PubMed id 10893433)¹ Wyss M. and Kaddurah-Daouk R. (2000)
49. Creatine Deficiency Syndromes (PubMed id 20301745)¹ Mercimek-Mahmutoglu S. and StAPckler-Ipsiroglu S. (1993)
50. Expression and function of AGAT, GAMT and CT1 in the mammalian brain. (PubMed id 18652072)⁹ Braissant O....Henry H. (2007)
51. Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts. (PubMed id 18258176)⁹ Leuzzi V....Cioni G. (2008)

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