SLC6A8 Gene

Aliases
for SLC6A8 gene

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

Summaries
for SLC6A8 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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 at NCBI GenBank:

NC_000023.10  NC_018934.2  NT_011681.17  

SwitchGear Promoter luciferase reporter plasmid: SLC6A8 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for SLC6A8: NX_P48029

Explore proteomics data for SLC6A8 at MOPED

Post-translational modifications: 

SLC6A8 Human Recombinant Protein Products:

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	antibodies-online peptides for SLC6A8

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	antibodies-online kits for SLC6A8 (23 products)

Domains /
Families
for SLC6A8 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P48029

Find genes that share domains with SLC6A8           About GenesLikeMe

Function
for SLC6A8 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 5 molecular function terms:    About this table

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

genOway: Develop your customized and physiologically relevant rodent model for SLC6A8

miRNA Products:		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
		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*
		SwitchGear 3'UTR luciferase reporter plasmid: SLC6A8 3' UTR sequence

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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for SLC6A8

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A8

Localization
for SLC6A8 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	4
cytosol	1
nucleus	1
peroxisome	1

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

Pathways & Interactions
for SLC6A8 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for SLC6A8 About     See pathways by source

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	SuperPath	Contained pathways About
1	Metabolism of amino acids and derivatives	Metabolism of amino acids and derivatives Creatine metabolism 0.00
2	Metabolism	Metabolism 0.38

1 Reactome Pathway for SLC6A8

Creatine metabolism

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

Drugs & Compounds
for SLC6A8 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for SLC6A8 gene

(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for SLC6A8 gene

(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 GenesLikeMe, 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

About this image

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

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A8

Orthologs
for SLC6A8 gene

(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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Paralogs
for SLC6A8 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Find genes that share paralogs with SLC6A8           About GenesLikeMe


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

Genomic Variants
for SLC6A8 gene

(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 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
VAR_0637094		Cerebral creatine deficiency syndrome 1 (CCDS1)4	--	see VAR_063709	2	C W	mis4		0	--	--	--	--
VAR_0205274		Cerebral creatine deficiency syndrome 1 (CCDS1)4	--	see VAR_020527	2	P L	mis4		0	--	--	--	--
VAR_0205264		Cerebral creatine deficiency syndrome 1 (CCDS1)4	--	see VAR_020526	2	G R	mis4		0	--	--	--	--
VAR_0205294		Cerebral creatine deficiency syndrome 1 (CCDS1)4	--	see VAR_020529	2	P L	mis4		0	--	--	--	--
VAR_0637074		Cerebral creatine deficiency syndrome 1 (CCDS1)4	--	see VAR_063707	2	G V	mis4		0	--	--	--	--
VAR_0637084		Cerebral creatine deficiency syndrome 1 (CCDS1)4	--	see VAR_063708	2	C W	mis4		0	--	--	--	--
VAR_0205254		Cerebral creatine deficiency syndrome 1 (CCDS1)4	--	see VAR_020525	2	G R	mis4		0	--	--	--	--
rs1224531181,2	C	pathogenic1	152959879(+)	GAGTGC/G/TGTGGT	12	C W	mis1		0	--	--	--	--
rs1874536271,2		--	152951771(+)	TCTCTC/GCCTTC	4	--	us2k1		0	--	--	--	--
rs22668641,2	H	--	152951912(+)	TCACGC/TGCCCA	4	--	us2k1		1		NS	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 ID	Type	Subtype	PubMed ID
esv1003299	CNV	Gain	20482838
esv33199	CNV	Gain+Loss	17666407
esv21656	CNV	Gain+Loss	19812545

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

Disorders / Diseases
for SLC6A8 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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

7 diseases for SLC6A8:    
About MalaCards

2 Novoseek inferred disease relationships for SLC6A8 gene    About this table

Publications
for SLC6A8 gene

(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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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)

External Searches for SLC6A8 gene

Genome Databases showing SLC6A8 gene

Other Databases showing SLC6A8 gene

Specialized Databases showing SLC6A8 gene

Products
for SLC6A8 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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