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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
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 Cerebral Creatine Deficiency Syndrome. Among its related pathways are NRF2 pathway and Viral mRNA Translation. 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
-
Required for the uptake of creatine in muscles and brain.
Additional gene information for SLC6A8 Gene
- HGNC(11055)
- Entrez Gene(6535)
- Ensembl(ENSG00000130821)
- OMIM(300036)
- UniProtKB(P48029)
- Open Targets Platform(ENSG00000130821)
- Monarch Initiative
- Search for SLC6A8 at DataMed
- Search for SLC6A8 at HumanCyc
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 Pubs
Promoters and enhancers for SLC6A8 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC6A8
- 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:
-
- Xq28 by HGNC
- Xq28 by Entrez Gene
- Xq28 by Ensembl
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
- G Biosciences Immunotag™ SLC6A8 Antibody
- Novus Biologicals Antibodies for SLC6A8
-
Abcam antibodies for SLC6A8
- Invitrogen Antibodies for SLC6A8 (AFLGC-SLC6A8)
-
Biorbyt antibodies for SLC6A8
-
Boster Bio Antibodies 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
-
Abcam proteins for SLC6A8
Assay Products
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
- InterPro:
- Blocks:
-
- Creatine transporter signature
- ProtoNet:
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
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
- 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
Phenotypes From GWAS Catalog 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,IEA | -- |
| GO:0005328 | neurotransmitter:sodium symporter activity | IEA | -- |
| GO:0005332 | gamma-aminobutyric acid:sodium symporter activity | IBA | -- |
Phenotypes for SLC6A8 Gene
- MGI mutant phenotypes for SLC6A8:
-
inferred from 7 alleles
- nervous system phenotype
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- skeleton phenotype
- hematopoietic system phenotype
- pigmentation phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for SLC6A8:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Decreased Sindbis virus (SINV) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
Animal Models for SLC6A8 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC6A8 - Select products 50% OFF >
- * SLC6A8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC6A8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC6A8
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A8
miRNA for SLC6A8 Gene
- miRTarBase miRNAs that target SLC6A8
-
- mmu-let-7b-5p (MIRT012225)
- mmu-miR-19b-3p (MIRT012598)
- mmu-miR-149-5p (MIRT014824)
- 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)
- mmu-miR-466o-3p (MIRT590983)
- mmu-miR-466m-3p (MIRT590984)
- mmu-miR-466f-3p (MIRT590985)
- mmu-miR-329-3p (MIRT590986)
- mmu-miR-466i-3p (MIRT590987)
- mmu-miR-362-3p (MIRT590988)
- mmu-miR-466m-5p (MIRT596278)
- mmu-miR-466j (MIRT596279)
- mmu-miR-669m-5p (MIRT596280)
- mmu-miR-466h-5p (MIRT596281)
- 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)
- hsa-miR-27a-3p (MIRT731602)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC6A8
- Browse OriGene Inhibitory RNA Products For SLC6A8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A8
Clone Products
- Applied Biological Materials (abm): Clones for SLC6A8 - Select products 50% OFF >
- * SLC6A8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG223078
- MG223080
- MR223078
- MR223078L3
- MR223078L4
- MR223080
- MR223080L3
- MR223080L4
- RC209828
- RC209828L1
- RC209828L2
- RC209828L3
- RC209828L4
- RC227137
- RC227137L3
- RC227137L4
- RC227151
- RC227151L3
- RC227151L4
- RG209828
- RG227137
- RG227151
- RR200565
- RR200565L3
- RR200565L4
- MR223078L3V
- MR223078L4V
- MR223080L3V
- MR223080L4V
- RC209828L1V
- RC209828L2V
- RC209828L3V
- RC209828L4V
- RC227137L3V
- RC227137L4V
- RC227151L3V
- RC227151L4V
- RR200565L3V
- RR200565L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC6A8
- Addgene plasmids for SLC6A8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC6A8
Cell Line Products
-
Horizon Cell Lines for SLC6A8
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 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA,TAS | 7953292 |
| GO:0043005 | neuron projection | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC6A8 Gene
Pathways & Interactions for SLC6A8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
| 2 | Metabolism |
.40
|
|
| 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
GPS-Prot Interaction Network for SLC6A8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006600 | creatine metabolic process | TAS | -- |
| GO:0006810 | transport | IBA | 21873635 |
| 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
Transcripts for SLC6A8 Gene
mRNA/cDNA for SLC6A8 Gene
- 3 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000253122 3931 nts (view in UCSC)
- ENST00000413787 468 nts (view in UCSC)
- ENST00000429147 334 nts (view in UCSC)
- ENST00000430077 1892 nts (view in UCSC)
- ENST00000442457 523 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC6A8 - Select products 50% OFF >
- * SLC6A8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC6A8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC6A8
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC6A8
- Browse OriGene Inhibitory RNA Products For SLC6A8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A8
Clone Products
- Applied Biological Materials (abm): Clones for SLC6A8 - Select products 50% OFF >
- * SLC6A8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG223078
- MG223080
- MR223078
- MR223078L3
- MR223078L4
- MR223080
- MR223080L3
- MR223080L4
- RC209828
- RC209828L1
- RC209828L2
- RC209828L3
- RC209828L4
- RC227137
- RC227137L3
- RC227137L4
- RC227151
- RC227151L3
- RC227151L4
- RG209828
- RG227137
- RG227151
- RR200565
- RR200565L3
- RR200565L4
- MR223078L3V
- MR223078L4V
- MR223080L3V
- MR223080L4V
- RC209828L1V
- RC209828L2V
- RC209828L3V
- RC209828L4V
- RC227137L3V
- RC227137L4V
- RC227151L3V
- RC227151L4V
- RR200565L3V
- RR200565L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC6A8
- Addgene plasmids for SLC6A8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC6A8
Relevant External Links for SLC6A8 Gene
- GeneLoc Exon Structure for
- SLC6A8
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, MaxQB, and MOPED for SLC6A8 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC6A8
SOURCE 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(4.7)
- Kidney(4.7)
- Skin(4)
- Muscle(3.4)
- Intestine(3.4)
- Blood(3.2)
- Heart(2.9)
- Lung(2.4)
- Pancreas(2.1)
- Liver(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
Primer Products
-
OriGene qPCR primer pairs for SLC6A8
-
OriGene qPCR primer pairs and template standards for SLC6A8
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC6A8 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | SLC6A8 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc6a8 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Slc6a8 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC6A8 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC6A8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC6A8 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC6A8 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100489909 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc6a8 30 31 |
|
OneToOne | |
| Dr.16770 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1732 31 32 |
|
OneToMany | |
| CG5549 32 |
|
|
|||
| ine 32 |
|
|
|||
| CG3252 32 |
|
|
|||
| CG10804 32 |
|
|
|||
| BG:DS03431.1 32 |
|
|
|||
| CG1698 32 |
|
|
|||
| CG8850 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | snf-11 31 32 |
|
OneToMany | |
| snf-3 32 |
|
|
|||
| snf-4 32 |
|
|
|||
| snf-9 32 |
|
|
|||
| snf-6 32 |
|
|
|||
| snf-2 32 |
|
|
|||
| snf-8 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4107 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| CSA.1853 31 |
|
OneToMany |
- Species where no ortholog for SLC6A8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
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
Pseudogenes.org Pseudogenes for SLC6A8 Gene
Variants for SLC6A8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC6A8 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 633583 | Pathogenic: not provided | 153,693,287(+) | ATTTTC/A | FRAMESHIFT_VARIANT | |
| 635461 | Pathogenic: Creatine transporter deficiency | 153,691,534(+) | CCT/C | FRAMESHIFT_VARIANT | |
| 643295 | Uncertain Significance: Creatine transporter deficiency | 153,688,650(+) | G/A | MISSENSE_VARIANT | |
| 650071 | Uncertain Significance: Creatine transporter deficiency | 153,688,663(+) | C/T | MISSENSE_VARIANT | |
| 651752 | Pathogenic: Creatine transporter deficiency | 153,691,364(+) | T/TG | FRAMESHIFT_VARIANT |
| 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)
Additional Variant Information for SLC6A8 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A8 Gene
Disorders for SLC6A8 Gene
(19) MalaCards diseases for SLC6A8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cerebral creatine deficiency syndrome 1 |
|
|
| cerebral creatine deficiency syndrome |
|
|
| creatine deficiency syndromes |
|
|
| cerebral creatine deficiency syndrome 2 |
|
|
| cerebral creatine deficiency syndrome 3 |
|
|
Search SLC6A8 in MalaCards
View complete list of genes associated with diseases
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
- Open Targets Platform
No data available for Genatlas for SLC6A8 Gene
Publications for SLC6A8 Gene
- 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
- 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 41
- 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
- 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
- [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]. (PMID: 17385170) Campistol J … Ribes A (Revista de neurologia 2007) 23 26
ExternalLinks
Products for SLC6A8 Gene
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Sources for SLC6A8 Gene
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