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 Osteoporosis. 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 SLC6A4.
UniProtKB/Swiss-Prot for SLC6A8 Gene
-
Required for the uptake of creatine in muscles and brain.
No data available for 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 | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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
-
Cloud-Clone Corp. Antibodies for SLC6A8
- Invitrogen Antibodies for SLC6A8
- antibodies-online Antibodies for SLC6A8: See all 48
- GeneTex SLC6A8 antibody for SLC6A8
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC6A8
Protein Products
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-
Cloud-Clone Corp. Proteins for SLC6A8
- antibodies-online Proteins for SLC6A8: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SLC6A8
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:0005308 | creatine transmembrane transporter activity | NAS | 8661037 |
Phenotypes for SLC6A8 Gene
- MGI mutant phenotypes for SLC6A8:
- inferred from 3 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
- MGI Knock Outs for SLC6A8:
-
- Slc6a8 tm1.2Clar
Animal Model Products
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-
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-
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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
Clone Products
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Cell Line Products
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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 |
| cytosol | 1 |
| peroxisome | 1 |
No data available for Gene Ontology (GO) - Cellular Components for SLC6A8 Gene
Pathways & Interactions for SLC6A8 Gene
More details on SuperPathways for SLC6A8| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 2 | Metabolism |
.38
|
|
| 3 | Viral mRNA Translation |
Pathways by source for SLC6A8 Gene
4 Reactome pathways for SLC6A8 Gene
Interacting Proteins for SLC6A8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006595 | polyamine metabolic process | TAS | -- |
| GO:0006936 | muscle contraction | TAS | 8661155 |
| GO:0008150 | biological_process | ND | -- |
| GO:0034641 | cellular nitrogen compound metabolic process | TAS | -- |
| GO:0044281 | small molecule metabolic process | TAS | -- |
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 | 110 |
| 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
Clone Products
- OriGene clones in human for SLC6A8
- OriGene ORF clones in human,mouse,rat for SLC6A8
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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, MOPED, and MaxQB for SLC6A8 Gene
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.
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 |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | SLC6A8 35 |
|
||
| SLC6A8 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | SLC6A8 35 |
|
||
| SLC6A8 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Slc6a8 35 |
|
||
| Slc6a8 16 |
|
||||
| Slc6a8 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | SLC6A8 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc6a8 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC6A8 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC6A8 36 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SLC6A8 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100489909 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | Dr.16770 35 |
|
||
| slc6a8 35 |
|
||||
| slc6a8 36 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | BG:DS03431.1 37 |
|
|
|
| CG10804 37 |
|
|
|||
| CG1698 37 |
|
|
|||
| CG1732 37 |
|
|
|||
| CG3252 37 |
|
|
|||
| CG5549 37 |
|
|
|||
| CG8850 37 |
|
|
|||
| ine 37 |
|
|
|||
| CG1732 36 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | snf-11 37 |
|
|
|
| snf-2 37 |
|
|
|||
| snf-3 37 |
|
|
|||
| snf-4 37 |
|
|
|||
| snf-6 37 |
|
|
|||
| snf-8 37 |
|
|
|||
| snf-9 37 |
|
|
|||
| snf-11 36 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToMany | |
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| CSA.1853 36 |
|
OneToMany | |||
| CSA.4107 36 |
|
OneToMany |
- Species with no ortholog for SLC6A8:
-
- 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 |
|---|---|---|---|---|---|
| VAR_020525 | Cerebral creatine deficiency syndrome 1 (CCDS1) | ||||
| VAR_020526 | Cerebral creatine deficiency syndrome 1 (CCDS1) | ||||
| VAR_020527 | Cerebral creatine deficiency syndrome 1 (CCDS1) | ||||
| VAR_020529 | Cerebral creatine deficiency syndrome 1 (CCDS1) | ||||
| VAR_034483 | - |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A8 Gene
Disorders for SLC6A8 Gene
(12) MalaCards diseases for SLC6A8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cerebral creatine deficiency syndrome 1 |
|
|
| osteoporosis |
|
|
| creatine deficiency syndromes |
|
|
| slc6a8-related creatine transporter deficiency |
|
|
| creatine transporter deficiency |
|
|
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: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
No data available for Genatlas for SLC6A8 Gene
Publications for SLC6A8 Gene
- 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 23 48 67
- [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]. (PMID: 17385170) Campistol J. … Ribes A. (Rev Neurol 2007) 23 25 26
- 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 23
- 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 23
- Spatiotemporal expression of the creatine metabolism related genes agat, gamt and ct1 during zebrafish embryogenesis. (PMID: 17486546) Wang L. … Zhang H. (Int. J. Dev. Biol. 2007) 25 26
Products for SLC6A8 Gene
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- Novus Biologicals Antibodies for SLC6A8
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- Cloud-Clone Corp. Antibodies for SLC6A8
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- Cloud-Clone Corp Assay Kits for SLC6A8
- antibodies-online Antibodies for SLC6A8: See all 48
- antibodies-online Kits for SLC6A8: See all 17
- antibodies-online Proteins for SLC6A8: See all 5
- Search antibodies-online for peptides
- GeneTex SLC6A8 antibody for SLC6A8
- Search GeneTex for Proteins for SLC6A8
- ViGene Biosciences adenoviral particle packaged cDNA for SLC6A8 gene
- ViGene Biosciences lentiviral 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
- ViGene Biosciences ready-to-package AAV shRNAs for SLC6A8 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SLC6A8 gene
- Search ViGene Biosciences for SLC6A8
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- Santa Cruz Biotechnology (SCBT) Antibodies for SLC6A8
- Search Santa Cruz Biotechnology (SCBT) for SLC6A8 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A8
Sources for SLC6A8 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
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