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
External Ids for SLC6A8 Gene
- HGNC: 11055
- Entrez Gene: 6535
- Ensembl: ENSG00000130821
- OMIM: 300036
- UniProtKB: P48029
Previous GeneCards Identifiers for SLC6A8 Gene
- GC0XP147090
- GC0XP149408
- GC0XP150539
- GC0XP151421
- GC0XP152301
- GC0XP152433
- GC0XP152606
- GC0XP152953
- GC0XP141612
Summaries 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.
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
- Transcription factor binding sites by QIAGEN in the SLC6A8 gene promoter:
Regulatory Element Products
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:
-
- Xq28 by Ensembl
- Xq28 by Entrez Gene
- Xq28 by HGNC
SLC6A8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2KY47
- B4DIA3
- E9PFC0
- Q13032
- Q66I36
Protein attributes for SLC6A8 Gene
- Size:
- 635 amino acids
- Molecular mass:
- 70523 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC6A8 Gene
Post-translational modifications for SLC6A8 Gene
Other Protein References for SLC6A8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLC6A8
- Invitrogen Antibodies for SLC6A8
- antibodies-online Antibodies for SLC6A8: See all 48
- GeneTex SLC6A8 antibody for SLC6A8
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLC6A8
- Origene Custom Protein Services for SLC6A8
- Novus Biologicals proteins for SLC6A8
- antibodies-online Proteins for SLC6A8: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SLC6A8
Assay Products
- antibodies-online Kits for SLC6A8: See all 17
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC6A8 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P48029UniProtKB/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.
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.
| 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 | -- |
Phenotypes for SLC6A8 Gene
- MGI mutant phenotypes for SLC6A8:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for SLC6A8:
-
- Increased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Increased Sindbis virus (SINV) infection
Animal Models for SLC6A8 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC6A8
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC6A8 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC6A8 gene
- Search ViGene Biosciences for SLC6A8
CRISPR Products
-
OriGene CRISPR knockouts for SLC6A8
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A8
- GenScript: Design CRISPR guide RNA sequences for SLC6A8
miRNA for SLC6A8 Gene
- miRTarBase miRNAs that target SLC6A8
-
- hsa-mir-877-3p (MIRT036805)
- hsa-mir-484 (MIRT041648)
- hsa-mir-320a (MIRT044490)
- hsa-mir-196a-5p (MIRT048259)
- hsa-mir-92a-3p (MIRT049670)
- hsa-mir-19a-3p (MIRT259381)
- hsa-mir-19b-3p (MIRT259382)
- hsa-mir-381-3p (MIRT259385)
- hsa-mir-1468-3p (MIRT259387)
- hsa-mir-300 (MIRT259388)
- hsa-mir-548f-5p (MIRT259390)
- hsa-mir-548g-5p (MIRT259391)
- hsa-mir-513c-5p (MIRT259392)
- hsa-mir-3163 (MIRT259393)
- hsa-mir-548x-5p (MIRT259394)
- hsa-mir-514b-5p (MIRT259395)
- hsa-mir-3662 (MIRT259396)
- hsa-mir-548aj-5p (MIRT259397)
- hsa-mir-548aw (MIRT259400)
- hsa-mir-6791-3p (MIRT259402)
- hsa-mir-6829-3p (MIRT259403)
- hsa-mir-7109-3p (MIRT259404)
- hsa-mir-4768-5p (MIRT409558)
- hsa-mir-6833-3p (MIRT409559)
- hsa-mir-6873-3p (MIRT546453)
- hsa-mir-340-5p (MIRT546454)
- hsa-mir-3121-5p (MIRT554172)
- hsa-mir-3591-5p (MIRT565576)
- hsa-mir-4477a (MIRT565577)
- hsa-mir-921 (MIRT565578)
- hsa-mir-3606-5p (MIRT565579)
- hsa-mir-6124 (MIRT565580)
- hsa-mir-3148 (MIRT565581)
- hsa-mir-3663-3p (MIRT565582)
- hsa-mir-3688-3p (MIRT565583)
- hsa-mir-3174 (MIRT565584)
- hsa-mir-382-5p (MIRT565585)
- hsa-mir-4694-3p (MIRT565586)
- hsa-mir-548c-3p (MIRT565587)
- hsa-mir-3620-5p (MIRT653433)
- hsa-mir-1587 (MIRT653434)
- hsa-mir-4674 (MIRT653435)
- hsa-mir-6780a-3p (MIRT653436)
- hsa-mir-6881-3p (MIRT653437)
- hsa-mir-7111-3p (MIRT653438)
- hsa-mir-6740-5p (MIRT653439)
- hsa-mir-4437 (MIRT653440)
- hsa-mir-4448 (MIRT653441)
- hsa-mir-5680 (MIRT653442)
- hsa-mir-4639-5p (MIRT699238)
- hsa-mir-1256 (MIRT699239)
- hsa-mir-5588-5p (MIRT699240)
- hsa-mir-4799-3p (MIRT699241)
- hsa-mir-6868-5p (MIRT699242)
- hsa-mir-4720-5p (MIRT699243)
- hsa-mir-3128 (MIRT699244)
- hsa-mir-3126-3p (MIRT699245)
- hsa-mir-6782-3p (MIRT699246)
- hsa-mir-190a-3p (MIRT699247)
- hsa-mir-5011-5p (MIRT699248)
- hsa-mir-3976 (MIRT699249)
miRNA Products
- Search ViGene Biosciences for SLC6A8
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for SLC6A8
- Browse OriGene Inhibitory RNA Products For SLC6A8
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC6A8 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SLC6A8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC6A8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for SLC6A8
Cell Line Products
-
Horizon Cell Lines for SLC6A8
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC6A8 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC6A8 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC6A8 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 2 |
| peroxisome | 1 |
| cytosol | 1 |
| 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 |
Pathways & Interactions for SLC6A8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 2 | Metabolism |
.37
|
|
| 3 | Viral mRNA Translation | ||
| 4 | NRF2 pathway | ||
Pathways by source for SLC6A8 Gene
1 BioSystems pathway for SLC6A8 Gene
4 Reactome pathways for SLC6A8 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for SLC6A8 Gene
Drugs & Compounds for SLC6A8 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Creatine | Approved | Nutra | Target | 130 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 |
|
Transcripts for SLC6A8 Gene
mRNA/cDNA for SLC6A8 Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (420) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC6A8 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC6A8
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A8
- GenScript: Design CRISPR guide RNA sequences for SLC6A8
miRNA Products
- Search ViGene Biosciences for SLC6A8
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for SLC6A8
- Browse OriGene Inhibitory RNA Products For SLC6A8
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC6A8 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SLC6A8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC6A8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for SLC6A8
Flow Cytometry Products
Expression for SLC6A8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
- Kidney (Urinary System)
-
Placenta (Extraembryonic Tissues)
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
NURSA nuclear receptor signaling pathways regulating expression of SLC6A8 Gene:
SLC6A8SOURCE GeneReport for Unigene cluster for SLC6A8 Gene:
Hs.540696mRNA 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
Primer Products
-
OriGene qPCR primer pairs for SLC6A8
-
OriGene qPCR primer pairs and template standards for SLC6A8
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC6A8 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC6A8 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc6a8 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc6a8 34 16 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC6A8 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC6A8 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC6A8 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SLC6A8 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100489909 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc6a8 34 35 |
|
||
| Dr.16770 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG1732 36 35 |
|
||
| CG5549 36 |
|
|
|||
| ine 36 |
|
|
|||
| CG3252 36 |
|
|
|||
| CG10804 36 |
|
|
|||
| BG:DS03431.1 36 |
|
|
|||
| CG1698 36 |
|
|
|||
| CG8850 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | snf-11 36 35 |
|
||
| snf-3 36 |
|
|
|||
| snf-4 36 |
|
|
|||
| snf-9 36 |
|
|
|||
| snf-2 36 |
|
|
|||
| snf-6 36 |
|
|
|||
| snf-8 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4107 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| CSA.1853 35 |
|
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)
Paralogs for SLC6A8 Gene
Paralogs for SLC6A8 Gene
(18) SIMAP similar genes for SLC6A8 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for SLC6A8 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A8 Gene
Disorders for SLC6A8 Gene
(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 deficiency syndromes |
|
|
| slc6a8-related creatine transporter deficiency |
|
|
| cerebral creatine deficiency syndrome |
|
|
| cerebral creatine deficiency syndrome 2 |
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Search SLC6A8 in MalaCards
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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.
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Publications for SLC6A8 Gene
- 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
- 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
- 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
- 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
- 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
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