Free for academic non-profit institutions. Other users need a Commercial license
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 hom... See more...
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. Gene Ontology (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 Summary 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.
Additional gene information for SLC12A5 Gene
- HGNC(13818)
- Entrez Gene(57468)
- Ensembl(ENSG00000124140)
- OMIM(606726)
- UniProtKB(Q9H2X9)
- Open Targets Platform(ENSG00000124140)
- Monarch Initiative
- Search for SLC12A5 at DataMed
- Search for SLC12A5 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC12A5 Gene
Genomics for SLC12A5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC12A5 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 SLC12A5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC12A5
- Top Transcription factor binding sites by QIAGEN in the SLC12A5 gene promoter:
-
- CREB
- NRSF form 1
- NRSF form 2
Genomic Locations for SLC12A5 Gene
Genomic Locations for SLC12A5 Gene
- chr20:46,021,686-46,060,150
- (GRCh38/hg38)
- Size:
- 38,465 bases
- Orientation:
- Plus strand
- chr20:44,650,329-44,688,789
- (GRCh37/hg19)
- Size:
- 38,461 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 HGNC
- 20q13.12 by Entrez Gene
- 20q13.12 by Ensembl
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
- Novus Biologicals Antibodies for SLC12A5
-
Abcam antibodies for SLC12A5
- Invitrogen Antibodies for SLC12A5 (AFLGC-SLC12A5)
- Sino Biological Antibodies 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
- antibodies-online: Show 8 available SLC12A5 Proteins ranked by validation data
- Compare Top SLC12A5 Proteins
-
Quality Products:
Assay Products
-
Signalway ELISA kits for SLC12A5
No data available for DME Specific Peptides for SLC12A5 Gene
Domains & Families for SLC12A5 Gene
Gene Families for SLC12A5 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC12A5 Gene
- InterPro:
- Blocks:
-
- K-Cl co-transporter signature
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC12A5 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59167, highly similar to Solute carrier family 12 member 5 (B7Z3T3_HUMAN)
- Neuronal K-Cl cotransporter (S12A5_HUMAN)
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 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).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by WNK3.
Phenotypes From GWAS Catalog for SLC12A5 Gene
| 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 | IEA,IDA | 12106695 |
| GO:0022857 | transmembrane transporter activity | IEA | -- |
Phenotypes for SLC12A5 Gene
- MGI mutant phenotypes for SLC12A5:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for SLC12A5:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 25%
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular), decreased viability (cell death)
Animal Models for SLC12A5 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC12A5 - Select products 50% OFF >
- * SLC12A5 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 SLC12A5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC12A5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC12A5
miRNA for SLC12A5 Gene
- miRTarBase miRNAs that target SLC12A5
-
- rno-miR-92a-3p (MIRT004647)
- mmu-miR-136-5p (MIRT015065)
- mmu-miR-9-5p (MIRT015505)
- 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)
- mmu-miR-3097-5p (MIRT580980)
- 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC12A5
- Browse OriGene Inhibitory RNA Products For SLC12A5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC12A5
Clone Products
- Applied Biological Materials (abm): Clones for SLC12A5 - Select products 50% OFF >
- * SLC12A5 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
- Sino Biological Human cDNA Clone for SLC12A5
- Addgene plasmids for SLC12A5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC12A5
Cell Line Products
-
Horizon Cell Lines for SLC12A5
No data available for Enzyme Numbers (IUBMB) , 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 | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA,IDA | 12106695 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC12A5 Gene
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 | Neuroscience | ||
| 3 | GABAergic synapse | ||
Pathways by source for SLC12A5 Gene
4 Reactome pathways for SLC12A5 Gene
1 KEGG pathway for SLC12A5 Gene
1 Cell Signaling Technology pathway for SLC12A5 Gene
Interacting Proteins for SLC12A5 Gene
GPS-Prot Interaction Network for SLC12A5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA,TAS | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0006821 | chloride transport | IEA | -- |
| GO:0006873 | cellular ion homeostasis | IDA | 12106695 |
| GO:0006884 | cell volume homeostasis | IBA | 21873635 |
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, Inhibitor, Inhibition, Target, inhibitor, blocker | NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor | 26 | |
| Potassium chloride | Approved, Withdrawn | Pharma | Target, Transporter, substrate | 0 | ||
| Furosemide | Approved, Vet_approved | Pharma | Agonist, Inhibitor, Inhibition | GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA | 263 | |
| Finasteride | Approved | Pharma | Transporter, modulator | Inhibitor of Type II 5α-reductase | 71 | |
| Chloride ion | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for SLC12A5 Gene
mRNA/cDNA for SLC12A5 Gene
- 2 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000243964 6026 nts (view in UCSC)
- ENST00000372315 1549 nts (view in UCSC)
- ENST00000413737 411 nts (view in UCSC)
- ENST00000428198 248 nts (view in UCSC)
- ENST00000454036 3593 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC12A5 - Select products 50% OFF >
- * SLC12A5 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 SLC12A5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC12A5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC12A5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC12A5
- Browse OriGene Inhibitory RNA Products For SLC12A5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC12A5
Clone Products
- Applied Biological Materials (abm): Clones for SLC12A5 - Select products 50% OFF >
- * SLC12A5 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
- Sino Biological Human cDNA Clone for SLC12A5
- Addgene plasmids for SLC12A5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for 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: |
Relevant External Links for SLC12A5 Gene
- GeneLoc Exon Structure for
- SLC12A5
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 and MOPED for SLC12A5 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC12A5
SOURCE 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(3.5)
- Kidney(2.2)
- Blood(2.1)
- Adrenal gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC12A5 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
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
Gene Expression Assay Products
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 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC12A5 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC12A5 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC12A5 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc12a5 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc12a5 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC12A5 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC12A5 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC12A5 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc12a5 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc12a5a 31 |
|
OneToMany | |
| LOC572215 30 |
|
||||
| slc12a5b 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | kcc 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | H16O14.1 32 |
|
|
|
| kcc-2 31 |
|
OneToMany | |||
| R13A1.2 32 |
|
|
|||
| K02A2.3 32 |
|
|
|||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CCC1 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0323700 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2084 31 |
|
OneToMany |
- Species where no ortholog for SLC12A5 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)
- Rainbow Trout (Oncorhynchus mykiss)
- 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)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for SLC12A5 Gene
- ENSEMBL:
- Gene Tree for SLC12A5 (if available)
- TreeFam:
- Gene Tree for SLC12A5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC12A5: view image
Paralogs for SLC12A5 Gene
Paralogs for SLC12A5 Gene
(9) SIMAP similar genes for SLC12A5 Gene using alignment to 13 proteins:
- S12A5_HUMAN
- B7Z3T3_HUMAN
- M4PJG0_HUMAN
- M4PJG5_HUMAN
- M4PJL7_HUMAN
- M4PM66_HUMAN
- M4PM71_HUMAN
- M4PNB5_HUMAN
- M4PNC0_HUMAN
- M4PV53_HUMAN
- M4PV58_HUMAN
- Q5VZ42_HUMAN
- V9GYL3_HUMAN
Variants for SLC12A5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC12A5 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 631485 | Uncertain Significance: Epilepsy, idiopathic generalized, susceptibility to, 14 | 46,043,887(+) | G/A | MISSENSE_VARIANT | |
| 640112 | Uncertain Significance: Early infantile epileptic encephalopathy 34 | 46,041,361(+) | G/A | MISSENSE_VARIANT | |
| 640703 | Uncertain Significance: Early infantile epileptic encephalopathy 34 | 46,044,963(+) | C/T | INTRON_VARIANT | |
| 640903 | Uncertain Significance: Early infantile epileptic encephalopathy 34 | 46,057,186(+) | C/T | MISSENSE_VARIANT | |
| 642504 | Uncertain Significance: Early infantile epileptic encephalopathy 34 | 46,035,783(+) | C/T | MISSENSE_VARIANT |
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)
Additional Variant Information for SLC12A5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A5 Gene
Disorders for SLC12A5 Gene
(21) MalaCards diseases for SLC12A5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 34 |
|
|
| epilepsy, idiopathic generalized 14 |
|
|
| malignant migrating partial seizures of infancy |
|
|
| slc12a5-related epilepsy of infancy with migrating focal seizures |
|
|
| epilepsy |
|
Search SLC12A5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
S12A5_HUMAN- 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.
- 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.
Additional Disease Information for SLC12A5
- 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 SLC12A5 Gene
Publications for SLC12A5 Gene
- Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento JL … Mychaleckyj JC (Genomics 2008) 3 23 41
- Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. (PMID: 26333769) Stödberg T … Kurian MA (Nature communications 2015) 3 4
- Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. (PMID: 24928908) Kahle KT … Rouleau GA (EMBO reports 2014) 3 4
- A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. (PMID: 24668262) Puskarjov M … Kaila K (EMBO reports 2014) 3 4
- Similar effects of all WNK3 variants on SLC12 cotransporters. (PMID: 21613606) Cruz-Rangel S … Mercado A (American journal of physiology. Cell physiology 2011) 3 4
ExternalLinks
Products for SLC12A5 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SLC12A5
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC12A5
- Origene Custom Protein Services for SLC12A5
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC12A5
- Browse OriGene Inhibitory RNA Products For SLC12A5
- OriGene qPCR primer pairs for SLC12A5
- OriGene CRISPR knockouts for SLC12A5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC12A5
- Sino Biological Human cDNA Clone for SLC12A5
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for SLC12A5
- Browse Sino Biological Assays
- Browse Antibodies
- 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 SLC12A5
- Novus Biologicals proteins and lysates for SLC12A5
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SLC12A5
- 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
- Invitrogen Antibodies for SLC12A5 (AFLGC-SLC12A5)
- VectorBuilder Custom and pre-made DNA vectors for SLC12A5 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SLC12A5 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SLC12A5 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SLC12A5 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SLC12A5
- Addgene plasmids for SLC12A5
- antibodies-online: Show 78 available SLC12A5 Antibodies ranked by validation data
- Compare Top SLC12A5 Antibodies
- antibodies-online: Search results for available SLC12A5 related products ranked by validation data
- antibodies-online: Show 8 available SLC12A5 Proteins ranked by validation data
- Compare Top SLC12A5 Proteins
- Quality Products:
- Horizon Cell Lines for SLC12A5
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC12A5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC12A5
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SLC12A5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC12A5
- Signalway ELISA kits for SLC12A5
Sources for SLC12A5 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) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB