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] See more...

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
  • Sodium- And Chloride-Dependent Creatine Transporter 1 3 4
  • Creatine Transporter 1 3 4
  • CT1 3 4
  • 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 Cerebral Creatine Deficiency Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and NRF2 pathway. Gene Ontology (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 Summary for SLC6A8 Gene

Gene Wiki entry for SLC6A8 Gene

Additional gene information for SLC6A8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC6A8 Gene

Genomics for SLC6A8 Gene

GeneHancer (GH) Regulatory Elements for SLC6A8 Gene

Promoters and enhancers for SLC6A8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ153683 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 758.2 -0.7 -685 7.1 CTCF POLR2A HDGF ZNF148 MLLT1 CBFA2T2 SP7 ZNF639 IKZF1 GLIS2 PNCK SLC6A8 NONHSAG055556.2 lnc-BCAP31-2 ABCD1 ENSG00000260081 ENSG00000232725 PDZD4 piR-60246-171
GH0XJ153721 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.4 +37.7 37667 7.2 SP1 ZBTB40 CTCF RBPJ SMARCE1 POLR2A NR2F1 NR2F6 MIXL1 MYC BCAP31 ABCD1 HSALNG0140785 PNCK SLC6A8 KRT18P48 PDZD4 piR-35083-003
GH0XJ153730 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 9.4 +43.7 43734 2.8 HLF CEBPB CEBPG CEBPA SOX13 ZBTB33 GATAD2A SAP130 ZSCAN29 JUNB PNCK ENSG00000232725 PLXNB3 SLC6A8 ABCD1 MECP2 TMEM187 IKBKG ARHGAP4 IRAK1
GH0XJ153702 Promoter/Enhancer 1 FANTOM5 Ensembl ENCODE 9.5 +17.1 17139 4.6 HLF ZBTB33 ZBTB48 KLF17 KLF1 SRPK3 PNCK SLC6A8 IKBKG AVPR2 piR-43107-324 BCAP31
GH0XJ153383 Enhancer 0.6 FANTOM5 1.5 -304.5 -304520 0.3 GTF2F1 ZNF148 MNT ZNF140 ZNF157 ZNF112 ZNF621 ZNF658 ZNF791 CBLL2 HCFC1 EMD MAGEA1 ENSG00000234200 MAGEA6 MAGEA2B MAGEA3 ENSG00000260081 PNMA6B SLC6A8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC6A8 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • Egr-4
  • Sp1

Genomic Locations for SLC6A8 Gene

Genomic Locations for SLC6A8 Gene
chrX:153,687,926-153,696,593
(GRCh38/hg38)
Size:
8,668 bases
Orientation:
Plus strand
chrX:152,953,554-152,962,048
(GRCh37/hg19)
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, Asn197, 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 :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC6A8 Gene

Suggested Antigen Peptide Sequences for SLC6A8 Gene

GenScript: Design optimal peptide antigens:
  • Transporter (B2KY47_HUMAN)
  • Transporter (E7ERS1_HUMAN)
  • Transporter (E9PFC0_HUMAN)
  • Solute carrier family 6 member 8 (SC6A8_HUMAN)

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

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

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 IBA,TAS 21873635
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015220 choline transmembrane transporter activity IBA 21873635
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 4
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 0
cytosol 0

Gene Ontology (GO) - Cellular Components for SLC6A8 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC6A8 Gene

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:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006936 muscle contraction TAS 8661155
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved, Investigational Nutra Target 160
Phosphocreatine Nutra Target 13

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

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

Transcripts for SLC6A8 Gene

CRISPR Products

Clone 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, 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
Regions:
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

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 32
  • 98.69 (n)
cow
(Bos Taurus)
Mammalia SLC6A8 33 32
  • 92.32 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a8 32
  • 92.13 (n)
mouse
(Mus musculus)
Mammalia Slc6a8 17 33 32
  • 91.97 (n)
dog
(Canis familiaris)
Mammalia SLC6A8 33 32
  • 91.93 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A8 33
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC6A8 33
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A8 33
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489909 32
  • 73.46 (n)
zebrafish
(Danio rerio)
Actinopterygii slc6a8 33 32
  • 73.1 (n)
OneToOne
Dr.16770 32
fruit fly
(Drosophila melanogaster)
Insecta CG1732 33 34
  • 45 (a)
OneToMany
CG5549 34
  • 42 (a)
ine 34
  • 41 (a)
CG3252 34
  • 38 (a)
CG10804 34
  • 37 (a)
BG:DS03431.1 34
  • 35 (a)
CG8850 34
  • 35 (a)
CG1698 34
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-11 33 34
  • 46 (a)
OneToMany
snf-3 34
  • 42 (a)
snf-4 34
  • 35 (a)
snf-9 34
  • 32 (a)
snf-2 34
  • 30 (a)
snf-6 34
  • 30 (a)
snf-8 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4107 33
  • 54 (a)
OneToMany
-- 33
  • 50 (a)
OneToMany
-- 33
  • 48 (a)
OneToMany
-- 33
  • 46 (a)
OneToMany
CSA.1853 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC6A8: view image

Paralogs for SLC6A8 Gene

(18) SIMAP similar genes for SLC6A8 Gene using alignment to 6 proteins:

  • SC6A8_HUMAN
  • G3FM76_HUMAN
  • H7C0F5_HUMAN
  • H7C1I2_HUMAN
  • H7C222_HUMAN
  • H7C249_HUMAN
genes like me logo Genes that share paralogs with SLC6A8: view

Variants for SLC6A8 Gene

Sequence variations from dbSNP and Humsavar for SLC6A8 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1060502808 pathogenic, Creatine deficiency, X-linked 153,693,322(+) CACA/CA coding_sequence_variant, frameshift
rs1060502811 uncertain-significance, Creatine deficiency, X-linked 153,695,096(+) C/T coding_sequence_variant, missense_variant
rs1060504719 likely-benign, Creatine deficiency, X-linked 153,688,616(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1198790754 uncertain-significance, Creatine deficiency, X-linked 153,688,600(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs122453113 pathogenic, Creatine deficiency, X-linked, Inborn genetic diseases, not provided 153,694,577(+) C/T coding_sequence_variant, stop_gained

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)

Additional Variant Information 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

(12) MalaCards diseases for SLC6A8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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:23033978, 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.

Additional Disease Information for SLC6A8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Martínez-Muñoz C … Salomons GS (Gene 2008) 3 4 23 56
  2. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. (PMID: 16738945) Clark AJ … Salomons GS (Human genetics 2006) 3 23 43 56
  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 KA … Schwartz CE (American journal of human genetics 2002) 3 4 23 56
  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 CL … Mercimek-Mahmutoglu S (Gene 2015) 3 4 56
  5. [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]. (PMID: 17385170) Campistol J … Ribes A (Revista de neurologia 2007) 23 26 56

Products for SLC6A8 Gene

Sources for SLC6A8 Gene