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Aliases for SLC6A8 Gene

Aliases for SLC6A8 Gene

  • Solute Carrier Family 6 Member 8 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 8 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8 2 3
  • Creatine Transporter 1 3 4
  • CT1 3 4
  • Sodium- And Chloride-Dependent Creatine Transporter 1 3
  • Creatine Transporter SLC6A8 Variant D 3
  • Creatine Transporter 2
  • CCDS1 3
  • CRTR 3
  • CTR5 3
  • CRT 3

External Ids for SLC6A8 Gene

Previous GeneCards Identifiers for SLC6A8 Gene

  • GC0XP147090
  • GC0XP149408
  • GC0XP150539
  • GC0XP151421
  • GC0XP152301
  • GC0XP152433
  • GC0XP152606
  • GC0XP152953
  • GC0XP141612

Summaries for SLC6A8 Gene

Entrez Gene Summary for SLC6A8 Gene

  • 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]

GeneCards Summary for SLC6A8 Gene

SLC6A8 (Solute Carrier Family 6 Member 8) is a Protein Coding gene. Diseases associated with SLC6A8 include Cerebral Creatine Deficiency Syndrome 1 and Creatine Deficiency Syndromes. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Viral mRNA Translation. GO annotations related to this gene include neurotransmitter:sodium symporter activity and creatine:sodium symporter activity. An important paralog of this gene is ENSG00000273554.

UniProtKB/Swiss-Prot for SLC6A8 Gene

  • Required for the uptake of creatine in muscles and brain.

Gene Wiki entry for SLC6A8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A8 Gene

Genomics for SLC6A8 Gene

Regulatory Elements for SLC6A8 Gene

Enhancers for SLC6A8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG153730 1.3 FANTOM5 Ensembl ENCODE 9.4 +43.6 43561 2.8 SOX13 CBX3 IRF2 SAP130 CEBPG ZSCAN29 FOS GATAD2A SOX5 HLF PNCK LOC102723591 PLXNB3 SLC6A8 ABCD1 MECP2 TMEM187 IKBKG ARHGAP4 IRAK1
GH0XG153721 1.1 ENCODE 9.4 +37.5 37495 7.2 FOXA2 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 FOS ZNF263 SP3 SP5 PNCK SLC6A8 KRT18P48 PDZD4 ABCD1 PLXNB3
GH0XG153683 1.2 Ensembl ENCODE 8.3 -2.1 -2091 4.7 HDGF ATF1 ZNF2 GLIS2 CBX5 ZNF263 SP3 REST GLIS1 ETV4 PNCK ABCD1 SLC6A8 PDZD4 RN7SL687P
GH0XG153702 1 FANTOM5 ENCODE 9.5 +17.0 16966 4.6 CTCF KLF1 NFIB HLF KLF17 ZNF623 NFIC ZBTB48 POLR2A SMARCA4 SRPK3 PNCK SLC6A8 IKBKG AVPR2 BCAP31
GH0XG153383 0.8 FANTOM5 1.5 -304.7 -304693 0.3 ZNF493 ZNF140 ZNF266 ZNF155 ZNF791 ZNF157 ADNP ZNF621 MNT ZNF645 HCFC1 EMD LOC105373383 PNMA6B SLC6A8 ZNF275 PNMA6E GC0XP153357
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A8 on UCSC Golden Path with GeneCards custom track

Promoters for SLC6A8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249586 401 2201 HDGF TBP ZSCAN4 KLF17 NFXL1 ZNF2 GLIS2 GATA2 ZNF366 SCRT2

Genomic Location for SLC6A8 Gene

Chromosome:
X
Start:
153,688,099 bp from pter
End:
153,696,593 bp from pter
Size:
8,495 bases
Orientation:
Plus strand

Genomic View for SLC6A8 Gene

Genes around SLC6A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A8 Gene

Proteins for SLC6A8 Gene

  • Protein details for SLC6A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48029-SC6A8_HUMAN
    Recommended name:
    Sodium- and chloride-dependent creatine transporter 1
    Protein Accession:
    P48029
    Secondary Accessions:
    • B2KY47
    • B4DIA3
    • E9PFC0
    • Q13032
    • Q66I36

    Protein attributes for SLC6A8 Gene

    Size:
    635 amino acids
    Molecular mass:
    70523 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC6A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A8 Gene

Post-translational modifications for SLC6A8 Gene

  • Glycosylation at Asn192, isoforms=4197, and Asn548
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A8 Gene

No data available for DME Specific Peptides for SLC6A8 Gene

Domains & Families for SLC6A8 Gene

Gene Families for SLC6A8 Gene

HGNC:
IUPHAR :

Protein Domains for SLC6A8 Gene

Suggested Antigen Peptide Sequences for SLC6A8 Gene

Graphical View of Domain Structure for InterPro Entry

P48029

UniProtKB/Swiss-Prot:

SC6A8_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily.
genes like me logo Genes that share domains with SLC6A8: view

Function for SLC6A8 Gene

Molecular function for SLC6A8 Gene

GENATLAS Biochemistry:
solute carrier family 6,member A8,neurotransmitter transporter,creatine
UniProtKB/Swiss-Prot Function:
Required for the uptake of creatine in muscles and brain.

Gene Ontology (GO) - Molecular Function for SLC6A8 Gene

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 TAS --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A8: view
genes like me logo Genes that share phenotypes with SLC6A8: view

Human Phenotype Ontology for SLC6A8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A8 Gene

MGI Knock Outs for SLC6A8:

Animal Model Products

CRISPR Products

miRNA for SLC6A8 Gene

miRTarBase miRNAs that target SLC6A8

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC6A8 Gene

Localization for SLC6A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A8 gene
Compartment Confidence
plasma membrane 5
nucleus 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC6A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA 7953292
genes like me logo Genes that share ontologies with SLC6A8: view

Pathways & Interactions for SLC6A8 Gene

genes like me logo Genes that share pathways with SLC6A8: view

Pathways by source for SLC6A8 Gene

1 BioSystems pathway for SLC6A8 Gene

Gene Ontology (GO) - Biological Process for SLC6A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0006810 transport TAS 7953292
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006836 neurotransmitter transport IEA --
genes like me logo Genes that share ontologies with SLC6A8: view

No data available for SIGNOR curated interactions for SLC6A8 Gene

Drugs & Compounds for SLC6A8 Gene

(2) Drugs for SLC6A8 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved Nutra Target 130

(3) Additional Compounds for SLC6A8 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC6A8: view

Transcripts for SLC6A8 Gene

Unigene Clusters for SLC6A8 Gene

Solute carrier family 6 (neurotransmitter transporter, creatine), member 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A8 Gene

No ASD Table

Relevant External Links for SLC6A8 Gene

GeneLoc Exon Structure for
SLC6A8
ECgene alternative splicing isoforms for
SLC6A8

Expression for SLC6A8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC6A8 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC6A8 Gene



Protein tissue co-expression partners for SLC6A8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC6A8 Gene:

SLC6A8

SOURCE GeneReport for Unigene cluster for SLC6A8 Gene:

Hs.540696

mRNA Expression by UniProt/SwissProt for SLC6A8 Gene:

P48029-SC6A8_HUMAN
Tissue specificity: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate.

Evidence on tissue expression from TISSUES for SLC6A8 Gene

  • Nervous system(4.9)
  • Eye(4.6)
  • Kidney(4.5)
  • Skin(3.6)
  • Intestine(3.1)
  • Muscle(2.9)
  • Blood(2.7)
  • Lung(2.4)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • esophagus
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SLC6A8: view

Primer Products

No data available for mRNA differential expression in normal tissues for SLC6A8 Gene

Orthologs for SLC6A8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A8 34
  • 98.69 (n)
cow
(Bos Taurus)
Mammalia SLC6A8 34 35
  • 92.32 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a8 34
  • 92.13 (n)
mouse
(Mus musculus)
Mammalia Slc6a8 34 16 35
  • 91.97 (n)
dog
(Canis familiaris)
Mammalia SLC6A8 34 35
  • 91.93 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC6A8 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC6A8 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A8 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489909 34
  • 73.46 (n)
zebrafish
(Danio rerio)
Actinopterygii slc6a8 34 35
  • 73.1 (n)
Dr.16770 34
fruit fly
(Drosophila melanogaster)
Insecta CG1732 36 35
  • 51 (a)
CG5549 36
  • 42 (a)
ine 36
  • 41 (a)
CG3252 36
  • 38 (a)
CG10804 36
  • 37 (a)
BG:DS03431.1 36
  • 35 (a)
CG1698 36
  • 35 (a)
CG8850 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-11 36 35
  • 47 (a)
snf-3 36
  • 42 (a)
snf-4 36
  • 35 (a)
snf-9 36
  • 32 (a)
snf-2 36
  • 30 (a)
snf-6 36
  • 30 (a)
snf-8 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4107 35
  • 54 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
CSA.1853 35
  • 43 (a)
OneToMany
Species where no ortholog for SLC6A8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A8 Gene

ENSEMBL:
Gene Tree for SLC6A8 (if available)
TreeFam:
Gene Tree for SLC6A8 (if available)

Paralogs for SLC6A8 Gene

Variants for SLC6A8 Gene

Sequence variations from dbSNP and Humsavar for SLC6A8 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs122453114 Pathogenic, Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] 153,693,586(+) AGTCA(C/G)GTAGG reference, missense
rs122453115 Pathogenic, Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] 153,688,833(+) ACGGC(A/G)GAGGT upstream-variant-2KB, reference, missense
rs122453116 Pathogenic, Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] 153,693,361(+) AACTG(C/G)TACAA reference, missense
rs122453117 Pathogenic, Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] 153,691,304(+) CCCAG(G/T)CCTGG reference, missense
rs122453118 Pathogenic, Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] 153,694,424(+) GAGTG(C/G/T)GTGGT reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC6A8 Gene

Variant ID Type Subtype PubMed ID
esv1003299 CNV gain 20482838
esv21656 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
nsv1075343 CNV deletion 25765185
nsv1122272 CNV deletion 24896259

Variation tolerance for SLC6A8 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A8 Gene

Human Gene Mutation Database (HGMD)
SLC6A8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A8 Gene

Disorders for SLC6A8 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC6A8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebral creatine deficiency syndrome 1
  • creatine transporter deficiency
creatine deficiency syndromes
  • cerebral creatine deficiency syndromes
slc6a8-related creatine transporter deficiency
  • mental retardation, x-linked, with creatine transport deficiency
cerebral creatine deficiency syndrome
  • cerebral creatine deficiency syndromes
cerebral creatine deficiency syndrome 2
  • guanidinoacetate methyltransferase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC6A8_HUMAN
  • 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. {ECO:0000269 PubMed:11898126, ECO:0000269 PubMed:12210795, ECO:0000269 PubMed:15154114, ECO:0000269 PubMed:17101918, ECO:0000269 PubMed:17465020, ECO:0000269 PubMed:23660394, ECO:0000269 PubMed:24123876, ECO:0000269 PubMed:25861866}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC6A8

Genetic Association Database (GAD)
SLC6A8
Human Genome Epidemiology (HuGE) Navigator
SLC6A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A8
genes like me logo Genes that share disorders with SLC6A8: view

No data available for Genatlas for SLC6A8 Gene

Publications for SLC6A8 Gene

  1. Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. (PMID: 18515020) Martinez-Munoz C. … Salomons G.S. (Gene 2008) 3 4 22 64
  2. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. (PMID: 16738945) Clark A.J. … Salomons G.S. (Hum. Genet. 2006) 3 22 46 64
  3. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (PMID: 11898126) Hahn K.A. … Schwartz C.E. (Am. J. Hum. Genet. 2002) 3 4 22 64
  4. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. (PMID: 25861866) DesRoches C.L. … Mercimek-Mahmutoglu S. (Gene 2015) 3 4 64
  5. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. (PMID: 17603797) Battini R. … Cioni G. (Am. J. Med. Genet. A 2007) 3 22 64

Products for SLC6A8 Gene

Sources for SLC6A8 Gene

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