Free for academic non-profit institutions. Other users need a Commercial license
Aliases for SLC6A13 Gene
Aliases for SLC6A13 Gene
- Solute Carrier Family 6 Member 13 2 3 4 5
- Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 13 2 3
- Solute Carrier Family 6 (Neurotransmitter Transporter), Member 13 2 3
- Sodium- And Chloride-Dependent GABA Transporter 2 3 4
- GABA Transporter 2 2 3
- GAT-2 3 4
- GAT2 3 4
- GABA Transport Protein 3
- GAT3 3
External Ids for SLC6A13 Gene
- HGNC: 11046
- Entrez Gene: 6540
- Ensembl: ENSG00000010379
- OMIM: 615097
- UniProtKB: Q9NSD5
Previous GeneCards Identifiers for SLC6A13 Gene
- GC12M000184
- GC12M000329
Summaries for SLC6A13 Gene
GeneCards Summary for SLC6A13 Gene
SLC6A13 (Solute Carrier Family 6 Member 13) is a Protein Coding gene. Diseases associated with SLC6A13 include Traumatic Glaucoma and Neovascular Glaucoma. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A12.
UniProtKB/Swiss-Prot Summary for SLC6A13 Gene
-
Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport.
-
GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters have been identified and localized to neurons and glia.
Additional gene information for SLC6A13 Gene
- Monarch Initiative
- Search for SLC6A13 at DataMed
- Search for SLC6A13 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC6A13 Gene
Genomics for SLC6A13 Gene
GeneHancer (GH) Regulatory Elements for SLC6A13 Gene
Promoters and enhancers for SLC6A13 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 SLC6A13 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SLC6A13 gene promoter:
-
- C/EBPbeta
- GATA-6
- NF-kappaB1
- p53
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- STAT1
- STAT3
Genomic Locations for SLC6A13 Gene
Genomic Locations for SLC6A13 Gene
- chr12:220,621-264,308
- (GRCh38/hg38)
- Size:
- 43,688 bases
- Orientation:
- Minus strand
- chr12:329,789-372,039
- (GRCh37/hg19)
- Size:
- 42,251 bases
- Orientation:
- Minus strand
Genomic View for SLC6A13 Gene
Genes around SLC6A13 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.33 by HGNC
- 12p13.33 by Entrez Gene
- 12p13.33 by Ensembl
SLC6A13 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 SLC6A13 Gene
Proteins for SLC6A13 Gene
-
Protein details for SLC6A13 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NSD5-S6A13_HUMAN
- Recommended name:
- Sodium- and chloride-dependent GABA transporter 2
- Protein Accession:
- Q9NSD5
- B4DJL1
- Q8TCC2
- Q8WW56
Protein attributes for SLC6A13 Gene
- Size:
- 602 amino acids
- Molecular mass:
- 68009 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAF64247.1; Type=Frameshift; Positions=542; Evidence={ECO:0000305};
Protein Expression for SLC6A13 Gene
Post-translational modifications for SLC6A13 Gene
Other Protein References for SLC6A13 Gene
Antibody Products
- G Biosciences Immunotag™ SLC6A13 Antibody
- Creative Diagnostics Anti-SLC6A13 monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC6A13
- Novus Biologicals Antibodies for SLC6A13
- Invitrogen Antibodies for SLC6A13 (AFLGC-SLC6A13)
Protein Products
-
OriGene Purified Proteins for SLC6A13
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC6A13
- Origene Custom Protein Services for SLC6A13
- Novus Biologicals proteins for SLC6A13
- antibodies-online: Show 3 available SLC6A13 Proteins ranked by validation data
- Compare Top SLC6A13 Proteins
-
Quality Products:
-
Abcam proteins for SLC6A13
No data available for DME Specific Peptides for SLC6A13 Gene
Domains & Families for SLC6A13 Gene
Gene Families for SLC6A13 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Protein Domains for SLC6A13 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC6A13 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59549, highly similar to Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13, mRNA (B4DJL1_HUMAN)
- Transporter (F5H6S9_HUMAN)
- Solute carrier family 6 member 13 (S6A13_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NSD5UniProtKB/Swiss-Prot:
S6A13_HUMAN :- Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily.
- Family:
-
- Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily.
Function for SLC6A13 Gene
Molecular function for SLC6A13 Gene
- UniProtKB/Swiss-Prot Function:
- Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=3.7 uM for GABA {ECO:0000269 PubMed:17502375}; KM=20.2 uM for beta-alanine {ECO:0000269 PubMed:17502375};
Phenotypes From GWAS Catalog for SLC6A13 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005332 | gamma-aminobutyric acid:sodium symporter activity | IBA | 21873635 |
| GO:0015293 | symporter activity | IEA | -- |
| GO:0042165 | neurotransmitter binding | IBA | 21873635 |
Phenotypes for SLC6A13 Gene
- MGI mutant phenotypes for SLC6A13:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SLC6A13:
Animal Models for SLC6A13 Gene
- MGI Knock Outs for SLC6A13:
-
- Slc6a13 Slc6a13<tm1.2Ncd>
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC6A13
CRISPR Products
-
OriGene CRISPR knockouts for SLC6A13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC6A13
- genomics-online: gRNA clones - Search for available SLC6A13 gRNA products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
- Applied Biological Materials (abm): CRISPR Clones for SLC6A13 - Select products 50% OFF >
- * SLC6A13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC6A13 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A13
miRNA for SLC6A13 Gene
- miRTarBase miRNAs that target SLC6A13
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SLC6A13
- Browse OriGene Inhibitory RNA Products For SLC6A13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A13
- genomics-online: shRNA clones - Search for available SLC6A13 shRNA products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for SLC6A13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC6A13
- genomics-online: cdna clones - Search for available SLC6A13 CDNA products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
- orf clones - Search for available SLC6A13 ORF products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
- Applied Biological Materials (abm): Clones for SLC6A13 - Select products 50% OFF >
- * SLC6A13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC6A13 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for SLC6A13
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC6A13 Gene
Localization for SLC6A13 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC6A13 Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
- Mitochondria (3)
- Cytosol (1)
- Nucleoli (1)
- Nucleus (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS,IBA | -- |
| GO:0005887 | integral component of plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0043005 | neuron projection | IBA | 21873635 |
Pathways & Interactions for SLC6A13 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.37
|
|
| 2 | Benzodiazepine Pathway, Pharmacodynamics |
.01
|
|
| 3 | Neurotransmitter Release Cycle | ||
| 4 | Transmission across Chemical Synapses |
.62
|
|
| 5 | GABAergic synapse | ||
Pathways by source for SLC6A13 Gene
1 BioSystems pathway for SLC6A13 Gene
9 Reactome pathways for SLC6A13 Gene
1 PharmGKB pathway for SLC6A13 Gene
2 KEGG pathways for SLC6A13 Gene
Interacting Proteins for SLC6A13 Gene
GPS-Prot Interaction Network for SLC6A13
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006836 | neurotransmitter transport | IEA | -- |
| GO:0015812 | gamma-aminobutyric acid transport | IEA | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for SLC6A13 Gene
Drugs & Compounds for SLC6A13 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guvacine | Experimental | Pharma | Target, inhibitor | 0 | ||
| (S)-SNAP 5114 | Pharma | GABA uptake inhibitor | 0 | |||
| CI 966 hydrochloride | Pharma | Selective inhibitor of GAT-1 | 0 | |||
| Guvacine hydrochloride | Pharma | Specific GABA uptake inhibitor | 0 | |||
| SKF 89976A hydrochloride | Pharma | Potent GABA uptake inhibitor. Penetrates blood brain barrier | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| SNAP-5114 |
|
Inhibition, Inhibitor |
|
|
||
| sodium |
|
7440-23-5 |
|
|||
| (+-)-Nipecotic acid |
|
60252-41-7 |
|
|
(5) Tocris Compounds for SLC6A13 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (+-)-Nipecotic acid | GABA uptake inhibitor | 60252-41-7 |
| (S)-SNAP 5114 | GABA uptake inhibitor | 157604-55-2 |
| CI 966 hydrochloride | Selective inhibitor of GAT-1 | 110283-66-4 |
| Guvacine hydrochloride | Specific GABA uptake inhibitor | 6027-91-4 |
| SKF 89976A hydrochloride | Potent GABA uptake inhibitor. Penetrates blood brain barrier | 85375-15-1 |
Transcripts for SLC6A13 Gene
mRNA/cDNA for SLC6A13 Gene
- (3) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (416) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000343164 2188 bps (ENST00000343164.8)
- ENST00000436453 1101 bps (ENST00000436453.1)
- ENST00000445055 1950 bps (ENST00000445055.6)
- ENST00000534887 525 bps (ENST00000534887.1)
- ENST00000536842 1001 bps (ENST00000536842.5)
CRISPR Products
-
OriGene CRISPR knockouts for SLC6A13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC6A13
- genomics-online: gRNA clones - Search for available SLC6A13 gRNA products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
- Applied Biological Materials (abm): CRISPR Clones for SLC6A13 - Select products 50% OFF >
- * SLC6A13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC6A13 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A13
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SLC6A13
- Browse OriGene Inhibitory RNA Products For SLC6A13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A13
- genomics-online: shRNA clones - Search for available SLC6A13 shRNA products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for SLC6A13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC6A13
- genomics-online: cdna clones - Search for available SLC6A13 CDNA products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
- orf clones - Search for available SLC6A13 ORF products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
- Applied Biological Materials (abm): Clones for SLC6A13 - Select products 50% OFF >
- * SLC6A13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC6A13 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | |||||||||||||
| SP3: | |||||||||||||
| SP4: | |||||||||||||
| SP5: | |||||||||||||
| SP6: | |||||||||||||
| SP7: | |||||||||||||
| SP8: | |||||||||||||
| SP9: | |||||||||||||
| SP10: | |||||||||||||
| SP11: |
Expression for SLC6A13 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Proximal Tubule Cells Proximal Tubule
- Distal Tubule Cells Distal Tubule
- Loop of Henle
- Distal Tubule
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
- Proximal Tubule Cells Proximal Tubule
- Distal Tubule Cells Distal Tubule
- Brain (Nervous System)
- Eye (Sensory Organs)
- Adipose (Muscoskeletal System)
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for SLC6A13 Gene
This gene is overexpressed in Kidney - Cortex (x24.0) and Liver (x6.8).
This gene is overexpressed in Cerebrospinal fluid (53.6) and Spinal cord (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC6A13 Gene
NURSA nuclear receptor signaling pathways regulating expression of SLC6A13 Gene:
SLC6A13SOURCE GeneReport for Unigene cluster for SLC6A13 Gene:
Hs.504398mRNA Expression by UniProt/SwissProt for SLC6A13 Gene:
Q9NSD5-S6A13_HUMAN
Tissue specificity:
Expressed in brain, kidney, lung, liver and testis.
Evidence on tissue expression from TISSUES for SLC6A13 Gene
- Kidney(4.8)
- Nervous system(4.8)
- Liver(4.4)
- Blood(2.1)
- Eye(2.1)
Primer Products
-
OriGene qPCR primer pairs for SLC6A13
- genomics-online: primer clones - Search for available SLC6A13 Primer products
- Overview of 134 available SLC6A13 gene related products
-
Recommended
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A13 Gene
Orthologs for SLC6A13 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC6A13 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SLC6A13 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SLC6A13 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SLC6A13 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Slc6a13 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc6a13 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC6A13 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC6A13 33 |
|
OneToOne | |
| LOC100858230 32 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | SLC6A13 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc6a13 32 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68654 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | SLC6A13 33 |
|
OneToOne | |
| LOC100332592 32 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7421 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG1732 34 |
|
|
|
| ine 34 |
|
|
|||
| CG5549 34 |
|
|
|||
| CG4476 34 |
|
|
|||
| CG8850 34 |
|
|
|||
| CG1698 34 |
|
|
|||
| CG10804 34 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | snf-11 34 |
|
|
|
| snf-3 34 |
|
|
|||
| snf-4 34 |
|
|
|||
| snf-2 34 |
|
|
|||
| snf-12 34 |
|
|
|||
| snf-6 34 |
|
|
|||
| snf-9 34 |
|
|
|||
| snf-5 34 |
|
|
|||
| snf-1 34 |
|
|
- Species where no ortholog for SLC6A13 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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 SLC6A13 Gene
- ENSEMBL:
- Gene Tree for SLC6A13 (if available)
- TreeFam:
- Gene Tree for SLC6A13 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC6A13: view image
Paralogs for SLC6A13 Gene
Paralogs for SLC6A13 Gene
(20) SIMAP similar genes for SLC6A13 Gene using alignment to 4 proteins:
- S6A13_HUMAN
- F5GZA5_HUMAN
- F5H5D9_HUMAN
- F5H6S9_HUMAN
Pseudogenes.org Pseudogenes for SLC6A13 Gene
Variants for SLC6A13 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1236167026 | uncertain-significance, not provided | 235,092(-) | G/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs139777154 | uncertain-significance, not provided | 222,623(-) | C/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1000067491 | -- | 234,450(-) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000139930 | -- | 247,355(-) | A/G | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant | |
| rs1000424385 | -- | 244,497(-) | T/C | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1330n100 | CNV | gain | 25217958 |
| esv2252314 | CNV | deletion | 18987734 |
| esv2759875 | CNV | gain+loss | 17122850 |
| esv34939 | CNV | loss | 17911159 |
| esv3580006 | CNV | loss | 25503493 |
| esv3628221 | CNV | gain | 21293372 |
| esv3628226 | CNV | gain | 21293372 |
| esv3628228 | CNV | loss | 21293372 |
| esv3628229 | CNV | loss | 21293372 |
| nsv1035539 | CNV | gain | 25217958 |
| nsv1050781 | CNV | loss | 25217958 |
| nsv1050912 | CNV | gain | 25217958 |
| nsv1121482 | CNV | deletion | 24896259 |
| nsv1141222 | CNV | deletion | 24896259 |
| nsv1144602 | CNV | deletion | 24896259 |
| nsv1147796 | CNV | deletion | 26484159 |
| nsv428269 | CNV | gain+loss | 18775914 |
| nsv468947 | CNV | gain | 19166990 |
| nsv470253 | CNV | gain | 18288195 |
| nsv523142 | CNV | gain | 19592680 |
| nsv556855 | CNV | loss | 21841781 |
| nsv556857 | CNV | gain | 21841781 |
| nsv556861 | CNV | loss | 21841781 |
| nsv570 | CNV | deletion | 18451855 |
| nsv832302 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.19;
61.93% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC6A13 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A13 Gene
Disorders for SLC6A13 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| traumatic glaucoma |
|
|
| neovascular glaucoma |
|
|
| glaucoma, primary open angle |
|
|
| hypertension, essential |
|
|
Search SLC6A13 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SLC6A13
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for SLC6A13 Gene
Publications for SLC6A13 Gene
- Cloning and characterization of a functional human gamma-aminobutyric acid (GABA) transporter, human GAT-2. (PMID: 17502375) Christiansen B … Braüner-Osborne H (The Journal of biological chemistry 2007) 3 4 23 56
- Sequence and chromosomal assignment of a human novel cDNA: similarity to gamma-aminobutyric acid transporter. (PMID: 11824941) Gong Y … Minuk GY (Canadian journal of physiology and pharmacology 2001) 3 4 23 56
- High selectivity of the γ-aminobutyric acid transporter 2 (GAT-2, SLC6A13) revealed by structure-based approach. (PMID: 22932902) Schlessinger A … Sali A (The Journal of biological chemistry 2012) 3 4 56
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
ExternalLinks
Products for SLC6A13 Gene
- Custom Antibody ServicesOriGene Antibodies for SLC6A13
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SLC6A13
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC6A13
- Origene Custom Protein Services for SLC6A13
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SLC6A13
- Browse OriGene Inhibitory RNA Products For SLC6A13
- OriGene qPCR primer pairs for SLC6A13
- OriGene CRISPR knockouts for SLC6A13
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC6A13
- Sino Biological Human cDNA Clone for SLC6A13
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SLC6A13
- Novus Biologicals proteins for SLC6A13
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for SLC6A13
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for SLC6A13
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SLC6A13 (AFLGC-SLC6A13)
- antibodies-online: Show 29 available SLC6A13 Antibodies ranked by validation data
- Compare Top SLC6A13 Antibodies
- antibodies-online: Search results for available SLC6A13 related products ranked by validation data
- antibodies-online: Show 3 available SLC6A13 Proteins ranked by validation data
- Compare Top SLC6A13 Proteins
- Quality Products:
- Horizon Cell Lines for SLC6A13
- genomics-online: cdna clones - Search for available SLC6A13 CDNA products
- Overview of 134 available SLC6A13 gene related products
- Recommended
- orf clones - Search for available SLC6A13 ORF products
- Overview of 134 available SLC6A13 gene related products
- Recommended
- genomics-online: gRNA clones - Search for available SLC6A13 gRNA products
- Overview of 134 available SLC6A13 gene related products
- Recommended
- genomics-online: primer clones - Search for available SLC6A13 Primer products
- Overview of 134 available SLC6A13 gene related products
- Recommended
- genomics-online: shRNA clones - Search for available SLC6A13 shRNA products
- Overview of 134 available SLC6A13 gene related products
- Recommended
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC6A13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC6A13
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SLC6A13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A13
Sources for SLC6A13 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource