SLC6A8 Gene
protein-coding GIFtS: 61
GCID: GC0XP152953
|
|
solute carrier family 6 (neurotransmitter transporter, creatine),...
| |
Aliases
for SLC6A8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member81 2 | | Solute Carrier Family 6 Member 82 3 | | CT11 2 3 | | CRT2 | | CRTR1 2 5 | | Creatine Transporter SLC6A82 | | Creatine Transporter 12 3 | | Sodium- And Chloride-Dependent Creatine Transporter 12 |
Export aliases for SLC6A8 gene to outside databasesPrevious GC identifers: GC0XP147090 GC0XP149408 GC0XP150539 GC0XP151421 GC0XP152301 GC0XP152433 GC0XP152606 GC0XP141612 |
Summaries
for SLC6A8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SLC6A8:
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out ofcells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encodingdifferent isoforms have been found for this gene. (provided by RefSeq, Dec 2008)
UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029Function: Required for the uptake of creatine in muscles and brain
Gene Wiki entry for SLC6A8
|
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167198.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SLC6A8 gene promoter:
E2F-3a Sp1 E2F E2F-1 E2F-2 Egr-4
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC6A8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: Xq28SLC6A8 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)
Start:
|
152,953,554 bp from pter |
End:
|
152,962,048 bp from pter |
Size:
|
8,495 bases |
Orientation:
|
plus strand |
|
Proteins
for SLC6A8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029 (See
protein sequence)Recommended Name: Sodium- and chloride-dependent creatine transporter 1 Size: 635 amino acids; 70523 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: B2KY47 B4DIA3 E9PFC0 Q13032 Q66I36Alternative 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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P48029
SLC6A8 Protein expression data from MOPED and PaxDb: About this image 
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
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
SLC6A8 for ontologies About GeneDecksing
SLC6A8 Antibody Products:
Assay Products for SLC6A8: |
Protein
Domains /
Families
for SLC6A8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC6A8 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P48029ProtoNet protein and cluster: P48029 1 Blocks protein family: IPB002984 Creatine transporter signature
UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily |
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,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029Function: Required for the uptake of creatine in muscles and brain Genatlas biochemistry entry for SLC6A8:solute carrier family 6,member A8,neurotransmitter transporter,creatine
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) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC6A8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A8 |
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 | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0005308 | creatine transmembrane transporter activity |
NAS | 8661037 | | GO:0005309 | creatine:sodium symporter activity |
IEA | -- | | GO:0005328 | neurotransmitter:sodium symporter activity |
IEA | -- | | GO:0015220 | choline transmembrane transporter activity |
IEA | -- |
SLC6A8 for ontologies About GeneDecksing
Animal Models:
5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Slc6a8):
SLC6A8 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SLC6A8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Metabolism of amino acids and derivatives | | | 2 | Metabolism | | | 3 | creatine-phosphate biosynthesis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 
Reactome Pathways for SLC6A8
SLC6A8 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 I2DAbout this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
SLC6A8 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC6A8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SLC6A8 for compounds About GeneDecksing
 Browse Tocris compounds for SLC6A8
2 HMDB Compounds for SLC6A8 About this table
1 DrugBank Compound for SLC6A8 About this table
3 Novoseek chemical compound relationships for SLC6A8 gene About this table
Search CenterWatch for drugs/clinical trials and news about SLC6A8 / SC6A8
|
Transcripts
for SLC6A8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: L3140910 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
Clone
Products: | | 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) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC6A8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A8 |
Additional cDNA 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 420 AceView cDNA sequences (see top 24): BU188850 F05064 CF243138 AI313496 BM686758 BM469011 AI188573 BQ941459 BI520007 AI554610 BU728309 CA424985 BM672940 BX283221 BM564619 BU753220 BQ427669 AI745370 BM771864 BU622792 AW297931 BM719623 AA435763 BM770194 AI802764 BM717961 CA436721 BM746677 BM747315 BM771219 BU631543 BM716162 BQ182485 AA595762 BQ678934 AA411997 BU539426 BG746704 AW451419 BQ674267 AA455183 BE385025 BM698648 BU622801 AI803236 AI382071 AU131521 BI087302 BM719707 AI500378 AI188209 AI366696 BM469148 AI208095 BM771212 AI879153 BF526534 BQ224538 T29261 AI335818 AI346743 BI857352 BE392126 BM856873 AI859040 CN485249 BQ004563 AI569003 BM680072 BM723919 AA582443 BM850692 AA903204 BM663957 AI859030 BM828305 AI083912 BQ425264 BU145441 BF940596 BV193161 AI028428 AW131226 CA395857 AI870388 N39084 BM473447 CD558219 BE207407 AI091927 BQ445854 BE676663 BG747736 BF934894 CD620945 CB113777 AI040767 AA729317 AI139844 AI240940 BC081558 BM987357 BM707010 BF439694 BU166226 CD675165 BE313137 AW083933 BF448732 BE383158 CD620944 AI937861 AA152457 AI254209 AA397941 BM703101 AI688116 AI953265 AI393891 R98000 AW170542 AI015965 AI818664 AA693793 AA846555 U17986 BG765960 BE388782 AI269429 N34242 CB306570 AW271636 AA778236 AI360824 BG167349 BV184473 BF447133 BG422343 BG180879 BU728639 AA993426 BG476477 BG761558 AI660976 BG285420 AL711751 BG478705 BE207799 NM_005629 AI499802 BQ773221 AA740384 AA604945 BG425580 BG055662 AI381652 AI933082 AA386268 BG764861 AI268971 CF140681 BM042355 BG821613 BU188292 R98235 BF339520 BM789069 AI187973 AI820043 BF032772 BX283399 BM670740 BE868121 AI612841 BE393565 AI347583 BF984598 BF058153 BM976245 BI255834 AA456755 AA399157 BE612962 BE254658 AI373021 BM747294 BC012355 BM706518 BG767822 BM801553 BU189447 AA253438 AA563803 AA366248 H96702 BM691946 CK005840 BG751142 R06236 AA292226 BM682916 AA843622 F00964 BG254646 AA253437 BG334225 BM781669 AI660900 AI923163 AI880443 AA911082 BG031721 BV193162 AI420293 H46833 BV199579 BE730553 CA434109 AW005580 BM766710 L31409 AA778216 BE302493 BE304847 BG762748 BX280934 BE393636 BE408583 BE563779 BV198678 BG260348 BI088133 AI760302 BE830157 BI039827 AI023154 BQ347328 BU145536 BE830326 N24405 BM771863 BF900366 N28324 BI669959 AA379740 BM795188 CD300252 BG910898 F36959 AA402061 N31633 AI698344 BE869613 AA909340 AI471932 AA843862 AA884531 AI369597 AA587070 BM015374 BU607898 N25604 AA338994 R87243 BQ317592 AI467939 AI373033 AI936713 AA740802 AA527487 AA329395 N24151 AA152456 AI469646 BI752375 AI982725 AA534729 AA573366 BQ437288 BM688447 AL118749 BE547502 BQ009842 H99155 F32720 CB305670 AW276522 BQ679265 AA740965 R76949 AI868361 BF855224 BM752271 BQ425137 BF821226 AW885219 N57254 AA633321 AA932218 F20243 AU153246 BM683656 BG620085 AA776631 BQ006147 H98927 AA877623 BU174624 BE276124 BE787886 AA336134 BE880874 AW965558 T69793 H96579 BE300770 H96847 BU600582 AA725238 H95519 AA781001 N34902 BG876264 W28137 BE615454 BQ374515 BG997166 AA304820 H82584 AA323301 F08776 N48439 T70780 BU196696 AI869734 N29835 AA878643 N62114 AA149192 AL119325 AA737758 BF924427 BM042958 BF931842 R40479 AW302277 CF780517 N34202 R30681 BF768106 AA047465 AW380036 R94768 AW885291 BG004484 BG222604 AA975570 H29617 CF993950 AA682650 W26324 BG993979 N25643 BF125811 N57086 AI017011 BM472193 AA534632 BE388381 R87278 R87266 R32607 R43085 BQ348830 N46628 AI806277 BE065651 BQ222311 BF770681 AL119502 AW386849 AW885290 R47856 AL119280 H62047 BQ330575 N20001 N67641 BI016796 BE737093 R42329 BQ228259 BM768016 W01299 R87252 BE830317 BI016844 BE839066 BE171359 BF327197 AA947330 BG255043 AW732614 AW860575 S74039 BQ333009 BE843307 H99507 BQ331609 R32497 BG475924 BF928244 AA614063 BF771618 R18763 AI954207 R49994 BU600519 R13048 BF832724
GeneLoc Exon Structure
|
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 GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SLC6A8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCATTTTCCA
About this image
See SLC6A8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC6A8
SOURCE GeneReport for Unigene cluster: Hs.540696
UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029Tissue specificity: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testisand prostate
SABiosciences Custom PCR Arrays for SLC6A8
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
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SLC6A8 gene from 4/17 species (see all 17) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SLC6A86 |
-- |
79(a) |
1 ↔ 1 |
Un(7934832-7935734) |
lizard
(Anolis carolinensis) |
Reptilia |
SLC6A86 |
-- |
85(a) |
1 ↔ 1 |
2(86877658-86918354) |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.167702 |
Transcribed sequence with weak similarity to protein more |
75.91(n) |
|
BI472886.1 |
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
for SLC6A8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| 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(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| 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 |
|---|
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 |
|
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.)
About This Section
|
SLC6A8 for disorders About GeneDecksing
OMIM gene information: 300036
OMIM disorders: 300352
UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]. XL-CDS causesdevelopmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia
13  diseases for SLC6A8: About MalaCardsx-linked creatine deficiency creatine deficiency syndrome fragile x syndrome autism spectrum disorder
intractable epilepsy x inactivation short stature intellectual disability
hypotonia seizures cerebritis prostatitis
sepsis
3 diseases from the University of Copenhagen DISEASES database for SLC6A8:AGAT deficiency Intellectual disability Ornithine translocase deficiency 2 Novoseek disease relationships for SLC6A8 gene About this table
GeneTests: SLC6A8
Creatine Deficiency Syndromes
Human Genome Epidemiology (HuGE) Navigator: SLC6A8 (3 documents)
Export disorders for SLC6A8 gene to outside databases
|
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)
About This Section
|
PubMed articles for SLC6A8 gene, integrated from 9 sources (see all 53):
(articles sorted by number of sources associating them with SLC6A8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (PubMed id 17101918)1, 2 Lion-Francois L.... des Portes V. (2006)
- High prevalence of SLC6A8 deficiency in X-linked mental retardation. (PubMed id 15154114)1, 2 Rosenberg E.H.... Salomons G.S. (2004)
- 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)
- X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (PubMed id 12210795)1, 2 Bizzi A.... Uziel G. (2002)
- The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. (PubMed id 8661155)1, 2 Sandoval N....Platzer M. (1996)
- 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)
- 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)
- Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. (PubMed id 7953292)1, 2 Nash S.R.... Caron M.G. (1994)
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External Searches for SLC6A8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SLC6A8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SLC6A8 gene
(According to HUGE)
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Specialized Databases showing SLC6A8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for SLC6A8 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A8 |
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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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Products
for SLC6A8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SLC6A8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC6A8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC6A8 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SLC6A8 | | OriGene 3'-UTR Clone for SLC6A8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC6A8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC6A8 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SLC6A8 | | OriGene Custom Protein Services for SLC6A8 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC6A8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC6A8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC6A8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC6A8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC6A8 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A8 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC6A8 |
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