Aliases for SLC12A5 Gene
Aliases for SLC12A5 Gene
External Ids for SLC12A5 Gene
- HGNC: 13818
- Entrez Gene: 57468
- Ensembl: ENSG00000124140
- OMIM: 606726
- UniProtKB: Q9H2X9
Previous GeneCards Identifiers for SLC12A5 Gene
- GC20P044386
- GC20P045296
- GC20P045343
- GC20P044091
- GC20P044651
- GC20P041391
Summaries for SLC12A5 Gene
-
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
GeneCards Summary for SLC12A5 Gene
SLC12A5 (Solute Carrier Family 12 Member 5) is a Protein Coding gene. Diseases associated with SLC12A5 include Epileptic Encephalopathy, Early Infantile, 34 and Epilepsy, Idiopathic Generalized 14. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuroscience. GO annotations related to this gene include protein kinase binding and potassium:chloride symporter activity. An important paralog of this gene is SLC12A7.
UniProtKB/Swiss-Prot for SLC12A5 Gene
-
Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).
-
K+/Cl- cotransporter 2 (KCC2, SLC12A5) is a neuron specific membrane protein that is responsible for the maintenance of the low intracellular Cl- concentration in adult neurons and has a key role in GABAA and glycine signaling.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A5 Gene
Genomics for SLC12A5 Gene
Regulatory Elements for SLC12A5 Gene
Enhancers for SLC12A5 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SLC12A5 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SLC12A5 gene promoter:
Regulatory Element Products
Genomic Location for SLC12A5 Gene
- Chromosome:
- 20
- Start:
- 46,021,690 bp from pter
- End:
- 46,060,152 bp from pter
- Size:
- 38,463 bases
- Orientation:
- Plus strand
Genomic View for SLC12A5 Gene
Genes around SLC12A5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.12 by Ensembl
- 20q13.12 by Entrez Gene
- 20q13.12 by HGNC
SLC12A5 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 SLC12A5 Gene
Proteins for SLC12A5 Gene
-
Protein details for SLC12A5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H2X9-S12A5_HUMAN
- Recommended name:
- Solute carrier family 12 member 5
- Protein Accession:
- Q9H2X9
- A2RTX2
- Q5VZ41
- Q9H4Z0
- Q9ULP4
Protein attributes for SLC12A5 Gene
- Size:
- 1139 amino acids
- Molecular mass:
- 126184 Da
- Quaternary structure:
-
- Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity).
- Miscellaneous:
-
- Inhibited by furosemide and bumetanide.
Protein Expression for SLC12A5 Gene
Post-translational modifications for SLC12A5 Gene
Other Protein References for SLC12A5 Gene
Antibody Products
- R&D Systems Antibodies for SLC12A5 (KCC2/SLC12A5)
- Cell Signaling Technology (CST) Antibodies for SLC12A5 (KCC2)
- Novus Biologicals Antibodies for SLC12A5
- Invitrogen Antibodies for SLC12A5
- antibodies-online Antibodies for SLC12A5: See all 81
- GeneTex SLC12A5 antibody for SLC12A5
Protein Products
-
OriGene Purified Proteins for SLC12A5
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC12A5
- Origene Custom Protein Services for SLC12A5
- Search GeneTex for Proteins for SLC12A5
Assay Products
- antibodies-online Kits for SLC12A5: See all 1
No data available for DME Specific Peptides for SLC12A5 Gene
Domains & Families for SLC12A5 Gene
Gene Families for SLC12A5 Gene
- HGNC:
- IUPHAR :
Protein Domains for SLC12A5 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC12A5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H2X9- Family:
-
- Belongs to the SLC12A transporter family.
Function for SLC12A5 Gene
Molecular function for SLC12A5 Gene
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by WNK3.
- UniProtKB/Swiss-Prot Function:
- Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015108 | chloride transmembrane transporter activity | IDA | 26333769 |
| GO:0015293 | symporter activity | IEA | -- |
| GO:0015377 | cation:chloride symporter activity | IEA | -- |
| GO:0015379 | potassium:chloride symporter activity | TAS,IEA | -- |
| GO:0022820 | potassium ion symporter activity | IBA | -- |
Phenotypes for SLC12A5 Gene
- MGI mutant phenotypes for SLC12A5:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for SLC12A5:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC12A5
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC12A5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
- Search ViGene Biosciences for SLC12A5
CRISPR Products
-
OriGene CRISPR knockouts for SLC12A5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC12A5
- GenScript: Design CRISPR guide RNA sequences for SLC12A5
miRNA for SLC12A5 Gene
- miRTarBase miRNAs that target SLC12A5
-
- hsa-mir-25-3p (MIRT296110)
- hsa-mir-32-5p (MIRT296111)
- hsa-mir-92a-3p (MIRT296112)
- hsa-mir-363-3p (MIRT296113)
- hsa-mir-367-3p (MIRT296114)
- hsa-mir-92b-3p (MIRT296116)
- hsa-mir-7703 (MIRT296117)
- hsa-mir-542-3p (MIRT491363)
- hsa-mir-6885-5p (MIRT491364)
- hsa-mir-328-5p (MIRT491365)
- hsa-mir-4697-5p (MIRT491366)
- hsa-mir-1237-5p (MIRT491367)
- hsa-mir-4488 (MIRT491368)
- hsa-mir-3178 (MIRT491369)
- hsa-mir-4479 (MIRT491370)
- hsa-mir-2277-3p (MIRT491371)
- hsa-mir-4285 (MIRT491372)
- hsa-mir-433-5p (MIRT491373)
- hsa-mir-4325 (MIRT501138)
- hsa-mir-203a-3p (MIRT501139)
- hsa-mir-6500-3p (MIRT501140)
- hsa-mir-3614-5p (MIRT501141)
- hsa-mir-548t-5p (MIRT501142)
- hsa-mir-548az-5p (MIRT501143)
- hsa-mir-548n (MIRT501144)
- hsa-mir-224-5p (MIRT501145)
- hsa-mir-4646-3p (MIRT653747)
- hsa-mir-4433b-5p (MIRT653748)
- hsa-mir-6749-3p (MIRT653749)
- hsa-mir-4433a-5p (MIRT653750)
- hsa-mir-4313 (MIRT653751)
- hsa-mir-4469 (MIRT653752)
- hsa-mir-6075 (MIRT653753)
- hsa-mir-5193 (MIRT653754)
- hsa-mir-4667-3p (MIRT653755)
- hsa-mir-6887-3p (MIRT653756)
- hsa-mir-4726-3p (MIRT653757)
- hsa-mir-6840-3p (MIRT653758)
miRNA Products
- Search ViGene Biosciences for SLC12A5
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for SLC12A5
- Browse OriGene Inhibitory RNA Products For SLC12A5
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SLC12A5
- VectorBuilder custom plasmid, inducible vectors for SLC12A5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC12A5
-
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 SLC12A5 (KCC2/SLC12A5)
Cell Line Products
-
Horizon Cell Lines for SLC12A5
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC12A5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC12A5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC12A5 Gene
Localization for SLC12A5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC12A5 Gene
- Membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 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,NAS | 12106695 |
| GO:0043025 | neuronal cell body | IEA | -- |
Pathways & Interactions for SLC12A5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 2 | GABAergic synapse | ||
| 3 | Neuroscience | ||
Pathways by source for SLC12A5 Gene
1 Cell Signaling Technology pathway for SLC12A5 Gene
1 KEGG pathway for SLC12A5 Gene
Interacting Proteins for SLC12A5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA,NAS | 12106695 |
| GO:0006811 | ion transport | IEA,TAS | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0006821 | chloride transport | IEA | -- |
| GO:0006873 | cellular ion homeostasis | NAS | 12106695 |
No data available for SIGNOR curated interactions for SLC12A5 Gene
Drugs & Compounds for SLC12A5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Bumetanide | Approved | Pharma | Agonist, blocker, Target, inhibitor | NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor | 17 | |
| Potassium Chloride | Approved, Withdrawn | Pharma | Target, Transporter, substrate | 0 | ||
| Furosemide | Approved, Vet_approved | Pharma | Agonist | GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA | 193 | |
| DIOA | Pharma | Inhibition, Inhibitor | 0 | |||
| VU0240551 | Pharma | Inhibition, Inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Chloride ion |
|
16887-00-6 |
|
(1) ApexBio Compounds for SLC12A5 Gene
| Compound | Action | Cas Number |
|---|---|---|
| VU 0240551 | KCC2 inhibitor | 893990-34-6 |
Transcripts for SLC12A5 Gene
mRNA/cDNA for SLC12A5 Gene
- (3) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (104) Selected AceView cDNA sequences:
- (25) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC12A5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC12A5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC12A5
- GenScript: Design CRISPR guide RNA sequences for SLC12A5
miRNA Products
- Search ViGene Biosciences for SLC12A5
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for SLC12A5
- Browse OriGene Inhibitory RNA Products For SLC12A5
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SLC12A5
- VectorBuilder custom plasmid, inducible vectors for SLC12A5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC12A5
-
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 SLC12A5 (KCC2/SLC12A5)
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: |
| ExUns: | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: | |||||||||||
| SP6: |
Expression for SLC12A5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for SLC12A5 Gene
This gene is overexpressed in Brain - Cerebellum (x7.3), Brain - Cerebellar Hemisphere (x7.3), Brain - Frontal Cortex (BA9) (x6.5), Brain - Cortex (x5.3), and Brain - Anterior cingulate cortex (BA24) (x5.0).
This gene is overexpressed in Frontal cortex (39.0) and Retina (21.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC12A5 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SLC12A5 Gene:
SLC12A5SOURCE GeneReport for Unigene cluster for SLC12A5 Gene:
Hs.21413mRNA Expression by UniProt/SwissProt for SLC12A5 Gene:
Q9H2X9-S12A5_HUMAN
Tissue specificity:
Brain specific. Detected in neuronal cells.
Evidence on tissue expression from TISSUES for SLC12A5 Gene
- Nervous system(4.9)
- Eye(3.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC12A5 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- skull
Thorax:
- chest wall
Abdomen:
- abdominal wall
Limb:
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SLC12A5
Orthologs for SLC12A5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC12A5 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC12A5 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SLC12A5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC12A5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc12a5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc12a5 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC12A5 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC12A5 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC12A5 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc12a5 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc12a5a 35 |
|
OneToMany | |
| LOC572215 34 |
|
||||
| slc12a5b 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | kcc 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | H16O14.1 36 |
|
|
|
| R13A1.2 36 |
|
|
|||
| kcc-2 35 |
|
OneToMany | |||
| K02A2.3 36 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CCC1 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0323700 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2084 35 |
|
OneToMany |
- Species where no ortholog for SLC12A5 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)
- rainbow trout (Oncorhynchus mykiss)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SLC12A5 Gene
Paralogs for SLC12A5 Gene
(9) SIMAP similar genes for SLC12A5 Gene using alignment to 13 proteins:
Variants for SLC12A5 Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs142740233 | other, Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685] | 46,056,217(+) | GCTCC(A/G)CCTGA | reference, missense | |
| rs548424453 | other, Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685] | 46,057,189(+) | TGCGG(A/C/T)GCATG | reference, missense | |
| rs863225304 | Pathogenic, Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645] | 46,043,294(+) | CCTGC(C/T)GGTTG | reference, missense | |
| rs863225305 | Pathogenic, Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645] | 46,045,891(+) | CCATG(A/G)CAAGG | reference, missense | |
| rs863225306 | Pathogenic, Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645] | 46,041,337(+) | CTGCC(A/T)CCTGG | reference, missense |
Residual Variation Intolerance Score:
2.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.95;
49.30% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SLC12A5 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A5 Gene
Disorders for SLC12A5 Gene
(8) MalaCards diseases for SLC12A5 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 34 |
|
|
| epilepsy, idiopathic generalized 14 |
|
|
| malignant migrating partial seizures of infancy |
|
|
| hypothalamic hamartomas |
|
|
| agenesis of the corpus callosum with peripheral neuropathy |
|
|
Search SLC12A5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
S12A5_HUMAN- Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685]: An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. {ECO:0000269 PubMed:24668262, ECO:0000269 PubMed:24928908, ECO:0000269 PubMed:26528127}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally. {ECO:0000269 PubMed:26333769}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for SLC12A5
No data available for Genatlas for SLC12A5 Gene
Publications for SLC12A5 Gene
- Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento J.L. … Mychaleckyj J.C. (Genomics 2008) 3 22 46 64
- Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. (PMID: 26333769) Stoedberg T. … Kurian M.A. (Nat. Commun. 2015) 3 4 64
- Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. (PMID: 24928908) Kahle K.T. … Rouleau G.A. (EMBO Rep. 2014) 3 4 64
- A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. (PMID: 24668262) Puskarjov M. … Kaila K. (EMBO Rep. 2014) 3 4 64
- Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PMID: 21613606) Cruz-Rangel S. … Mercado A. (Am. J. Physiol. 2011) 3 4 64
Products for SLC12A5 Gene
- R&D Systems Antibodies for SLC12A5 (KCC2/SLC12A5)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for SLC12A5 (KCC2/SLC12A5)
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
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- Novus Biologicals Antibodies for SLC12A5
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for SLC12A5 Gene
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- (74) Cloud-Clone Corp.
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